11573/1700853 - 2024 -
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer? Bottillo, Irene; Laino, Luigi; Azzarà, Alessia; Lintas, Carla; Cassano, Ilaria; Di Lazzaro, Vincenzo; Ursini, Francesca; Motolese, Francesco; Bargiacchi, Simone; Formicola, Daniela; Grammatico, Paola; Gurrieri, Fiorella - 01a Articolo in rivista
rivista: FRONTIERS IN NEUROSCIENCE (Lausanne : EPFL : Frontiers Research Foundation, 2007-) pp. 1304080- - issn: 1662-453X - wos: WOS:001145074200001 (0) - scopus: 2-s2.0-85182673297 (0)
11573/1663103 - 2023 -
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability? Bottillo, Irene; Savino, Emanuele; Majore, Silvia; Mulargia, Claudia; Valiante, Michele; Ferraris, Alessandro; Rossi, Valentina; Svegliati, Francesca; Ciccone, Maria Pia; Brusco, Francesca; Grammatico, Barbara; Di Giacomo, Gianluca; Bargiacchi, Simone; D'angelantonio, Daniela; Grammatico, Paola - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF HUMAN GENETICS (-NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON, ENGLAND, N1 9XW
-S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. - - issn: 1018-4813 - wos: WOS:000900187200002 (2) - scopus: 2-s2.0-85144202660 (4)
11573/1687412 - 2023 -
Germline NUP98 Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling Colombo, Elisa Adele; Valiante, Michele; Uggeri, Matteo; Orro, Alessandro; Majore, Silvia; Grammatico, Paola; Gentilini, Davide; Finelli, Palma; Gervasini, Cristina; D'ursi, Pasqualina; Larizza, Lidia - 01a Articolo in rivista
rivista: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel: MDPI Center) pp. 4028- - issn: 1422-0067 - wos: WOS:000938577900001 (2) - scopus: 2-s2.0-85149052925 (2)
11573/1686426 - 2023 -
Myelodysplastic clones arising post chimeric antigen receptor t cell therapy (car-t) procedure: a casuality or a new entity? Di Rocco, A.; Di Palma, M.; D'elia, G. M.; Iaquinta, G.; Breccia, M.; Mancini, F.; Grammatico, P.; Martelli, M. - 01a Articolo in rivista
rivista: ANNALS OF HEMATOLOGY (Berlin; Heidelberg: Springer) pp. - - issn: 0939-5555 - wos: WOS:001033468200002 (0) - scopus: 2-s2.0-85165193652 (0)
11573/1686400 - 2023 -
CCND2 mutations in atypical chronic myeloid leukemia: a report of two cases Iaquinta, G.; Scalzulli, E.; Angeloni, S.; Carmosino, I.; Costa, A.; Ielo, C.; Passucci, M.; Masucci, C.; Grammatico, P.; Breccia, M.; Martelli, M. - 01a Articolo in rivista
rivista: LEUKEMIA & LYMPHOMA (Taylor & Francis Limited:Rankine Road, Basingstoke RG24 8PR United Kingdom:011 44 1256 813035, EMAIL: madeline.sims@tandf.co.uk, info@tandf.co.uk, INTERNET: http://www.tandf.co.uk, Fax: 011 44 1256 330245) pp. 1-3 - issn: 1042-8194 - wos: WOS:001028761900001 (0) - scopus: 2-s2.0-85165127447 (0)
11573/1671390 - 2022 -
Longitudinal dynamics of SARS-CoV-2 anti–receptor binding domain IgG antibodies in a wide population of health care workers after BNT162b2 vaccination Bordi, L.; Sberna, G.; Piscioneri, C. N.; Cocchiara, R. A.; Miani, A.; Grammatico, P.; Mariani, B.; Parisi, G. - 01a Articolo in rivista
rivista: INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES (Decker Periodicals Publishing Incorporated:PO Box 620, LCD 1, Hamilton Ontario L8N 3K7 Canada:(800)568-7281, (905)522-7017, EMAIL: info@bcdecker.com, INTERNET: http://www.bcdecker.com, Fax: (888)311-4987
ELSEVIER SCI LTD, THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD, ENGLAND, OXON, OX5 1GB) pp. 174-177 - issn: 1201-9712 - wos: (0) - scopus: 2-s2.0-85131688490 (5)
11573/1671766 - 2022 -
Atypical variants in {COL}1A1 and {COL}3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports Colman, Marlies; Castori, Marco; Micale, Lucia; Ritelli, Marco; Colombi, Marina; Ghali, Neeti; Van Dijk, Fleur; Marsili, Luisa; Weeks, Adrienne; Vandersteen, Anthony; Rideout, Andrea; Legrand, Anne; Frank, Michael; Mirault, Tristan; Ferraris, Alessandro; Di Giosaffatte, Niccolo'; Grammatico, Paola; Grunert, Juergen; Frank, Charissa; Symoens, Sofie; Syx, Delfien; Malfait, Fransiska - 01a Articolo in rivista
rivista: CLINICAL AND EXPERIMENTAL RHEUMATOLOGY (Pisa: Clinical and Experimental Rheumatology.) pp. S46-S62 - issn: 1593-098X - wos: WOS:000799906400007 (8) - scopus: 2-s2.0-85130360836 (8)
11573/1662673 - 2022 -
Severe Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants D'angelantonio, D; Majore, S; Di Netta, T; Zotta, F; Parise, G; Savino, E; Rosignoli, S; Bizzarri, B; Signore, F; Grammatico, P; Bottillo, I - 01a Articolo in rivista
rivista: ARCHIVES DE PEDIATRIE (Editions Scientifique & Medical Elsevier:23 Rue Linois, F 75724 Paris Cedex 15 France:011 33 1 71724646, INTERNET: http://www.elsevier.fr, Fax: 011 33 1 71724664) pp. 530-533 - issn: 0929-693X - wos: WOS:000965565600010 (0) - scopus: 2-s2.0-85138547085 (0)
11573/1648120 - 2022 -
Discordant cfDNA-NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman Di Giosaffatte, N; Bottillo, I; Laino, L; Iaquinta, G; Ferraris, A; Garzia, M; Bargiacchi, S; Mulargia, C; Angelitti, Mr; Palumbo, F; Grammatico, B; Bartolelli, C; Salerno, Mg; Rigacci, L; Grammatico, P - 01a Articolo in rivista
rivista: PRENATAL DIAGNOSIS (John Wiley & Sons Limited:1 Oldlands Way, Bognor Regis, P022 9SA United Kingdom:011 44 1243 779777, EMAIL: cs-journals@wiley.co.uk, INTERNET: http://www.wiley.co.uk, Fax: 011 44 1243 843232) pp. - - issn: 0197-3851 - wos: WOS:000791748900001 (0) - scopus: 2-s2.0-85133835472 (1)
11573/1663105 - 2022 -
Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2? Di Giosaffatte, Niccolò; Ferraris, Alessandro; Gaudioso, Federica; Lodato, Valentina; Savino, Emanuele; Celletti, Claudia; Camerota, Filippo; Bargiacchi, Simone; Laino, Luigi; Majore, Silvia; Bottillo, Irene; Grammatico, Paola - 01a Articolo in rivista
rivista: GENES (Basel : Molecular Diversity Preservation International) pp. 2358- - issn: 2073-4425 - wos: WOS:000901248700001 (2) - scopus: 2-s2.0-85144538958 (2)
11573/1652497 - 2022 -
A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report Di Giosaffatte, Niccolò; Valiante, Michele; Tricarico, Stefano; Parise, Giulia; De Negri, Anna Maria; Ricciotti, Guido; Florean, Lara; Paiardini, Alessandro; Bottillo, Irene; Grammatico, Paola - 01a Articolo in rivista
rivista: GENES (Basel : Molecular Diversity Preservation International) pp. - - issn: 2073-4425 - wos: WOS:000831455900001 (2) - scopus: 2-s2.0-85135136310 (3)
11573/1663104 - 2022 -
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations Lintas, Carla; Bottillo, Irene; Sacco, Roberto; Azzarà, Alessia; Cassano, Ilaria; Ciccone, Maria Pia; Grammatico, Paola; Gurrieri, Fiorella - 01a Articolo in rivista
rivista: GENES (Basel : Molecular Diversity Preservation International) pp. 2266- - issn: 2073-4425 - wos: WOS:000901353600001 (0) - scopus: 2-s2.0-85144566549 (0)
11573/1627274 - 2022 -
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement Micale, L.; Morlino, S.; Carbone, A.; Carissimo, A.; Nardella, G.; Fusco, C.; Palumbo, O.; Schirizzi, A.; Russo, F.; Mazzoccoli, G.; Breckpot, J.; De Luca, C.; Ferraris, A.; Giunta, C.; Grammatico, P.; Haanpaa, M. K.; Mancano, G.; Forzano, G.; Cacchiarelli, D.; Van Esch, H.; Callewaert, B.; Rohrbach, M.; Castori, M. - 01a Articolo in rivista
rivista: GENETICS IN MEDICINE (New York: Elsevier
Baltimore MD: Williams & Wilkins) pp. 439-453 - issn: 1098-3600 - wos: WOS:000797597400016 (0) - scopus: 2-s2.0-85123022658 (2)
11573/1627270 - 2022 -
Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB Pascolini, G.; Passarelli, C.; Lipari, M.; Chandramouli, B.; Chillemi, G.; Di Giosaffatte, N.; Novelli, A.; Grammatico, P. - 01a Articolo in rivista
rivista: CLINICAL GENETICS (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. 377-378 - issn: 0009-9163 - wos: WOS:000735173700001 (1) - scopus: 2-s2.0-85121714561 (1)
11573/1627268 - 2022 -
Clinical refinement of the SETD5-associated phenotype in a child displaying novel features and KBG syndrome-like appearance Pascolini, G; Gnazzo, M; Novvelli, A; Grammatico, P - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 1-3 - issn: 1552-4833 - wos: WOS:000752186700001 (3) - scopus: 2-s2.0-85124546247 (3)
11573/1627278 - 2021 -
Use of DPB1 T-cell epitope algorithm among italian transplant centers: a survey on behalf of Associazione Italiana di Immunogenetica e Biologia dei Trapianti Crocchiolo, R.; Mele, L.; Testi, M.; Scollo Chiara, M.; Murgia, B.; Rossi, A.; Vecchiato, C.; Grammatico, P.; Mininni, D.; Longhi, E.; Manfroi, S.; Giuliodori, S.; Castellani, L.; Carella, G.; Lai, S.; Azzaro Maria, P.; Mazzi, B.; Perotti, L.; Penta, R.; Lombardo, C.; Tognellini, R.; Andreani, M.; Albergoni Maria, P.; Nesci, S.; Cappuzzo, V.; Chiusolo, P.; Garino, E.; Cappucci, G.; Ceschini, N.; Bevilacqua, E.; Guizzardi, E.; Tagliaferri Cinzia, M.; Piazza, A.; Carcassi, C.; Miotti, V. - 01a Articolo in rivista
rivista: HLA (John Wiley & Sons, Inc.) pp. 114-121 - issn: 2059-2302 - wos: WOS:000667751900001 (2) - scopus: 2-s2.0-85108814725 (2)
11573/1523877 - 2021 -
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior Harris, H. K.; Nakayama, T.; Lai, J.; Zhao, B.; Argyrou, N.; Gubbels, C. S.; Soucy, A.; Genetti, C. A.; Suslovitch, V.; Rodan, L. H.; Tiller, G. E.; Lesca, G.; Gripp, K. W.; Asadollahi, R.; Hamosh, A.; Applegate, C. D.; Turnpenny, P. D.; Simon, M. E. H.; Volker-Touw, C. M. L.; Gassen, K. L. I.; Binsbergen, E.; Pfundt, R.; Gardeitchik, T.; Vries, B. B. A.; Immken, L. D. L.; Buchanan, C.; Willing, M.; Toler, T. L.; Fassi, E.; Baker, L.; Vansenne, F.; Wang, X.; Ambrus, J. L.; Fannemel, M.; Posey, J. E.; Agolini, E.; Novelli, A.; Rauch, A.; Boonsawat, P.; Fagerberg, C. R.; Larsen, M. J.; Kibaek, M.; Labalme, A.; Poisson, A.; Payne, K. K.; Walsh, L. E.; Aldinger, K. A.; Balciuniene, J.; Skraban, C.; Gray, C.; Murrell, J.; Bupp, C. P.; Pascolini, G.; Grammatico, P.; Broly, M.; Kury, S.; Nizon, M.; Rasool, I. G.; Zahoor, M. Y.; Kraus, C.; Reis, A.; Iqbal, M.; Uguen, K.; Audebert-Bellanger, S.; Ferec, C.; Redon, S.; Baker, J.; Wu, Y.; Zampino, G.; Syrbe, S.; Brosse, I.; Jamra, R. A.; Dobyns, W. B.; Cohen, L. L.; Blomhoff, A.; Mignot, C.; Keren, B.; Courtin, T.; Agrawal, P. B.; Beggs, A. H.; Yu, T. W. - 01a Articolo in rivista
rivista: GENETICS IN MEDICINE (New York: Elsevier
Baltimore MD: Williams & Wilkins) pp. 1028-1040 - issn: 1098-3600 - wos: WOS:000625025700001 (24) - scopus: 2-s2.0-85102065834 (23)
11573/1473681 - 2021 -
Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome Majore, S; Agolini, E; Micale, L; Pascolini, G; Zuppi, P; Cocciadiferro, D; Morlino, S; Mattiuzzo, M; Valiante, M; Castori, M; Novelli, A; &Nbsp;, ; Grammatico, P - 01a Articolo in rivista
rivista: CLINICAL GENETICS (Oxford : Blackwell) pp. 540-546 - issn: 1399-0004 - wos: WOS:000607154800001 (4) - scopus: 2-s2.0-85099287989 (4)
11573/1555912 - 2021 -
True conversions from RAS mutant to RAS wild-type in circulating tumor DNA from metastatic colorectal cancer patients as assessed by methylation and mutational signature Nicolazzo, C.; Barault, L.; Caponnetto, S.; De Renzi, G.; Belardinilli, F.; Bottillo, I.; Bargiacchi, S.; Macagno, M.; Grammatico, P.; Giannini, G.; Cortesi, E.; Di Nicolantonio, F.; Gazzaniga, P. - 01a Articolo in rivista
rivista: CANCER LETTERS (Elsevier Science Ireland Limited:PO Box 85, Limerick Ireland:011 353 61 709600, 011 353 61 61944, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 353 61 709114) pp. 89-96 - issn: 0304-3835 - wos: WOS:000636733400009 (10) - scopus: 2-s2.0-85103013994 (9)
11573/1601270 - 2021 -
Comparison of two blood-based genotyping tests to investigate the KRAS G12C mutation in patients with non-small-cell lung cancer at failure of first-line treatments Nicolazzo, Chiara; Gelibter, Alain; Bottillo, Irene; Belardinilli, Francesca; Pisegna, Simona; De Renzi, Gianluigi; Marinelli, Daniele; Grammatico, Paola; Cortesi, Enrico; Giannini, Giuseppe; Gazzaniga, Paola - 01a Articolo in rivista
rivista: DIAGNOSTICS (Basel: MDPI) pp. - - issn: 2075-4418 - wos: WOS:000736643600001 (3) - scopus: 2-s2.0-85120168344 (3)
11573/1627276 - 2021 -
Clinical and molecular aspects of the neurodevelopmental disorder associated with PAK3 perturbation Pascolini, G.; Gaudioso, F.; Passarelli, C.; Novelli, A.; Di Giosaffatte, N.; Majore, S.; Grammatico, P. - 01i Case report
rivista: JOURNAL OF MOLECULAR NEUROSCIENCE (Humana Press Incorporated:999 Riverview Drive, Suite 208:Totowa, NJ 07512:(973)256-1699, EMAIL: lglasner@humanapr.com, INTERNET: http://www.humanapress.com, Fax: (973)256-8341) pp. 2474-2481 - issn: 0895-8696 - wos: WOS:000669776200002 (3) - scopus: 2-s2.0-85109334014 (3)
11573/1485739 - 2021 -
Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome Pontecorvi, P.; Bernardini, L.; Capalbo, A.; Ceccarelli, S.; Megiorni, F.; Vescarelli, E.; Bottillo, I.; Preziosi, N.; Fabbretti, M.; Perniola, G.; Benedetti Panici, P.; Pizzuti, A.; Grammatico, P.; Marchese, C. - 01a Articolo in rivista
rivista: SCIENTIFIC REPORTS (London: Springer Nature
London: Nature Publishing Group) pp. - - issn: 2045-2322 - wos: WOS:000627829300152 (12) - scopus: 2-s2.0-85099215590 (10)
11573/1556834 - 2021 -
Altered expression of candidate genes in Mayer–Rokitansky–Küster–Hauser syndrome may influence vaginal keratinocytes biologya. A focus on Protein Kinase X Pontecorvi, P.; Megiorni, F.; Camero, S.; Ceccarelli, S.; Bernardini, L.; Capalbo, A.; Anastasiadou, E.; Gerini, G.; Messina, E.; Perniola, G.; Panici, P. B.; Grammatico, P.; Pizzuti, A.; Marchese, C. - 01a Articolo in rivista
rivista: BIOLOGY (Basel : MDPI) pp. 1-22 - issn: 2079-7737 - wos: WOS:000665559300001 (4) - scopus: 2-s2.0-85107183887 (4)
11573/1473688 - 2020 -
Comprehensive analysis of mitochondrial and nuclear DNA variations in patients affected by hemoglobinopathies: a pilot study Barbanera, Y.; Arcioni, F.; Lancioni, H.; La Starza, R.; Cardinali, I.; Matteucci, C.; Nofrini, V.; Roetto, A.; Piga, A.; Grammatico, P.; Caniglia, M.; Mecucci, C.; Gorello, P. - 01a Articolo in rivista
rivista: PLOS ONE (San Francisco, CA : Public Library of Science) pp. - - issn: 1932-6203 - wos: WOS:000586647200010 (3) - scopus: 2-s2.0-85094101474 (3)
11573/1477091 - 2020 -
Studio dell’eterogeneità genetica in pazienti affetti da Sickle Cell Disease mediante analisi del DNA mitocondriale Barbanera, Ylenia; Arcioni, Francesco; Lancioni, Hovirag; La Starza, Roberta; Cardinali, Irene; Matteucci, Caterina; Nofrini, Valeria; Roetto, Antonella; Piga, Antonio; Grammatico, Paola; Caniglia, Maurizio; Mecucci, Cristina; Gorello, Paolo - 04f Poster
congresso: XI Congresso SITE (Società Italiana Emoglobinopatie e Talassemie) 2020 (Modalità telematica)
libro: XI Congresso SITE, Società Italiana Emoglobinopatie e Talassemie, 2020 - ()
11573/1656619 - 2020 -
A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome Bottillo, Irene; Valiante, Michele; Menale, Lucia; Paiardini, Alessandro; Papi, Laura; Janson, Giacomo; Sestini, Roberta; Iorio, Alessandra; De Simone, Paola; Frascione, Pasquale; Grammatico, Paola - 01a Articolo in rivista
rivista: DERMATOLOGY ONLINE JOURNAL (University of California:25 Lower Freeborn:Davis, CA 95616:(916)752-0365, (916)752-0208, Fax: (916)752-0355) pp. - - issn: 1087-2108 - wos: (0) - scopus: 2-s2.0-85091193097 (2)
11573/1443387 - 2020 -
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype Breen, M. S.; Garg, P.; Tang, L.; Mendonca, D.; Levy, T.; Barbosa, M.; Arnett, A. B.; Kurtz-Nelson, E.; Agolini, E.; Battaglia, A.; Chiocchetti, A. G.; Freitag, C. M.; Garcia-Alcon, A.; Grammatico, P.; Hertz-Picciotto, I.; Ludena-Rodriguez, Y.; Moreno, C.; Novelli, A.; Parellada, M.; Pascolini, G.; Tassone, F.; Grice, D. E.; Di Marino, D.; Bernier, R. A.; Kolevzon, A.; Sharp, A. J.; Buxbaum, J. D.; Siper, P. M.; De Rubeis, S. - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF HUMAN GENETICS (University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811) pp. 555-563 - issn: 0002-9297 - wos: WOS:000565899700015 (8) - scopus: 2-s2.0-85089978747 (9)
11573/1473676 - 2020 -
A single center retrospective review of patients from central italy tested for melanoma predisposition genes De Simone, P; Bottillo, I; Valiante, M; Iorio, A; De Bernardo, C; Majore, S; D'angelantonio, D; Valentini, T; Sperduti, I; Piemonte, P; Eibenschutz, L; Ferrari, A; Carbone, A; Buccini, P; Paiardini, A; Silipo, V; Frascione, P; Grammatico, P - 01a Articolo in rivista
rivista: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel (Matthaeustrasse 11) : Molecular Diversity Preservation International MDPI) pp. 1-17 - issn: 1661-6596 - wos: WOS:000602971200001 (2) - scopus: 2-s2.0-85097557593 (2)
11573/1443370 - 2020 -
Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy Lipari, M.; Wypasek, E.; Karpinski, M.; Tomkiewicz-Pajak, L.; Laino, L.; Binni, F.; Giannarelli, D.; Rubis, P.; Petkow-Dimitrow, P.; Undas, A.; Grammatico, P.; Bottillo, I. - 01a Articolo in rivista
rivista: POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ () pp. 89-99 - issn: 0032-3772 - wos: WOS:000518196600004 (14) - scopus: 2-s2.0-85080824122 (14)
11573/1443364 - 2020 -
Harmonization of Next-Generation Sequencing Procedure in Italian Laboratories: A Multi-Institutional Evaluation of the SiRe® Panel Malapelle, U.; Pepe, F.; Pisapia, P.; Sgariglia, R.; Nacchio, M.; De Luca, C.; Lacalamita, R.; Tommasi, S.; Pinto, R.; Palomba, G.; Palmieri, G.; Vacirca, D.; Barberis, M.; Bottillo, I.; Grammatico, P.; Grillo, L. R.; Costa, V.; Smeraglio, R.; Bruzzese, D.; Troncone, G. - 01a Articolo in rivista
rivista: FRONTIERS IN ONCOLOGY (Lausanne : Frontiers Editorial Office, 2011-) pp. 1-7 - issn: 2234-943X - wos: WOS:000525639000001 (7) - scopus: 2-s2.0-85082678222 (7)
11573/1443329 - 2020 -
Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy Micale, L.; Morlino, S.; Biagini, T.; Carbone, A.; Fusco, C.; Ritelli, M.; Giambra, V.; Zoppi, N.; Nardella, G.; Notarangelo, A.; Schirizzi, A.; Mazzoccoli, G.; Grammatico, P.; Wade, E. M.; Mazza, T.; Colombi, M.; Castori, M. - 01a Articolo in rivista
rivista: BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE (Elsevier BV:PO Box 211, 1000 AE Amsterdam Netherlands:011 31 20 4853757, 011 31 20 4853642, 011 31 20 4853641, EMAIL: nlinfo-f@elsevier.nl, INTERNET: http://www.elsevier.nl, Fax: 011 31 20 4853598) pp. - - issn: 0925-4439 - wos: WOS:000527950000016 (7) - scopus: 2-s2.0-85081199839 (7)
11573/1473674 - 2020 -
Exon-trapping assay improves clinical interpretation of COL11A1 and COL11A2 intronic variants in stickler syndrome type 2 and otospondylomegaepiphyseal dysplasia Micale, Lucia; Morlino, Silvia; Schirizzi, Annalisa; Agolini, Emanuele; Nardella, Grazia; Fusco, Carmela; Castellana, Stefano; Guarnieri, Vito; Villa, Roberta; Francesca Bedeschi, Maria; Grammatico, Paola; Novelli, Antonio; Castori, Marco - 01i Case report
rivista: GENES (Basel : Molecular Diversity Preservation International) pp. - - issn: 2073-4425 - wos: WOS:000601999300001 (8) - scopus: 2-s2.0-85098515341 (8)
11573/1443366 - 2020 -
COL1-related overlap disorder: a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap Morlino, S.; Micale, L.; Ritelli, M.; Rohrbach, M.; Zoppi, N.; Vandersteen, A.; Mackay, S.; Agolini, E.; Cocciadiferro, D.; Sasaki, E.; Madeo, A.; Ferraris, A.; Reardon, W.; Di Rocco, M.; Novelli, A.; Grammatico, P.; Malfait, F.; Mazza, T.; Hakim, A.; Giunta, C.; Colombi, M.; Castori, M. - 01a Articolo in rivista
rivista: CLINICAL GENETICS (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. 396-406 - issn: 0009-9163 - wos: WOS:000502566600001 (26) - scopus: 2-s2.0-85076418863 (28)
11573/1443397 - 2020 -
A novel patient with White–Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations Pascolini, G.; Agolini, E.; Fleischer, N.; Gulotta, E.; Cesario, C.; D'elia, G.; Novelli, A.; Majore, S.; Grammatico, P. - 01i Case report
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 1791-1795 - issn: 1552-4825 - wos: WOS:000529743200001 (8) - scopus: 2-s2.0-85084207357 (8)
11573/1443376 - 2020 -
Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication Pascolini, G.; Agolini, E.; Fleischer, N.; Pierantoni, R.; Loddo, S.; Novelli, A.; Bernardini, L.; Majore, S.; Grammatico, P. - 01f Lettera, Nota
rivista: NEUROLOGICAL SCIENCES (-Springer-Verlag Italia
-Masson SPA:via Flli Bressan 2, I 20126 Milan Italy:011 39 02 27074286, EMAIL: aboonamenti@masson.it, INTERNET: http://www.masson.it, Fax: 011 39 02 27074210) pp. 3571-3573 - issn: 1590-1874 - wos: WOS:000539888200003 (2) - scopus: 2-s2.0-85086341852 (1)
11573/1443352 - 2020 -
The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype Pascolini, G.; Agolini, E.; Novelli, A.; Majore, S.; Grammatico, P. - 01f Lettera, Nota
rivista: CLINICAL GENETICS (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. 672-674 - issn: 0009-9163 - wos: WOS:000509754700001 (4) - scopus: 2-s2.0-85078660122 (4)
11573/1443327 - 2020 -
Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion Pascolini, G.; Valiante, M.; Bottillo, I.; Laino, L.; Fleischer, N.; Ferraris, A.; Grammatico, P. - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF MEDICAL GENETICS (AMSTERDAM, NETHERLANDS,: ELSEVIER SCIENCE BV) pp. - - issn: 1769-7212 - wos: WOS:000516852000023 (8) - scopus: 2-s2.0-85072543111 (9)
11573/1473686 - 2020 -
Koolen de Vries Sundrome in the first adulthood patient of Southern India Ancestry Pascolini, G; Gaudioso, F; Fadda, Mt; Laino, L; Ferraris, A; &Nbsp;, ; Grammatico, P. - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. - - issn: 1552-4833 - wos: WOS:000598104100001 (1) - scopus: 2-s2.0-85097495978 (1)
11573/1349126 - 2019 -
Studio di una famiglia beta talassemica mediante NGS Barbanera, Ylenia; Arcioni, Francesco; Cerri, Carla; Gurdo, Grazia; Capolsini, Ilaria; Mousa, Qatawneh; Grammatico, Paola; Matteucci, Caterina; Caniglia, Maurizio; Mecucci, Cristina; Gorello, Paolo - 04f Poster
congresso: XLIV Congresso AIEOP, Associazione Italiana Ematologia Oncologia Pediatrica (Catania; Italy)
libro: XLIV Congresso AIEOP, Associazione Italiana Ematologia Oncologia Pediatrica - ()
11573/1349099 - 2019 -
Caratterizzazione genotipica di una famiglia con beta-talassemia mediante NGS Barbanera, Ylenia; Francesco, Arcioni; Grammatico, Paola; Mousa, Qatawneh; Roberta La Starza, ; Maurizio, Caniglia; Cristina, Mecucci; Paolo, Gorello - 04f Poster
congresso: Meeting Club del Globulo Rosso & SITE (Mila; Italy)
libro: Meeting Club Globulo Rosso&SITE - ()
11573/1264518 - 2019 -
A new HLA-C*04 variant, HLA-C*04:01:106, discovered in an Italian hematopoietic stem cell donor Catalano, Manuela; Preziosi, Nicoletta; Iaquinta, Giovanni; Testi, Manuela; Grammatico, Paola - 01a Articolo in rivista
rivista: HLA (John Wiley & Sons, Inc.) pp. 232-233 - issn: 2059-2302 - wos: WOS:000462353100013 (2) - scopus: 2-s2.0-85061035089 (2)
11573/1686403 - 2019 -
A new HLA-C*04 variant, HLA-C*04:01:106, discovered in an Italian hematopoietic stem cell donor Catalano, Manuela; Preziosi, Nicoletta; Iaquinta, Giovanni; Testi, Manuela; Grammatico, Paola - 01i Case report
rivista: HLA ([Hoboken, NJ] : John Wiley & Sons, [2016]-) pp. - - issn: 2059-2310 - wos: WOS:000462353100013 (2) - scopus: 2-s2.0-85061035089 (2)
11573/1264509 - 2019 -
Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients Copetti, Massimiliano; Morlino, Silvia; Colombi, Marina; Grammatico, Paola; Fontana, Andrea; Castori, Marco - 01a Articolo in rivista
rivista: RHEUMATOLOGY (Oxford : Oxford University Press, 1999-) pp. - - issn: 1462-0324 - wos: WOS:000491255500006 (22) - scopus: 2-s2.0-85067447103 (22)
11573/1348946 - 2019 -
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis. Morlino, S; Carbone, A; Ritelli, M; Fusco, C; Giambra, V; Nardella, G; Notarangelo, A; Panelli, P; Mazzoccoli, G; Zoppi, N; Grammatico, P; Wade, Em; Colombi, M; Castori, M; Micale, L. - 01a Articolo in rivista
rivista: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 1886-1898 - issn: 1059-7794 - wos: WOS:000473598200001 (6) - scopus: 2-s2.0-85072718396 (5)
11573/1264524 - 2019 -
LTBP2-related “Marfan-like” phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant Morlino, Silvia; Alesi, Viola; Calì, Federica; Lepri, Francesca Romana; Secinaro, Aurelio; Grammatico, Paola; Novelli, Antonio; Drago, Fabrizio; Castori, Marco; Baban, Anwar - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 104-112 - issn: 1552-4825 - wos: WOS:000456891400016 (8) - scopus: 2-s2.0-85058675375 (7)
11573/1207739 - 2019 -
Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene Pascolini, Giulia; Majore, Silvia; Valiante, Michele; Bottillo, Irene; Laino, Luigi; Agolini, Emanuele; Novelli, Antonio; Grammatico, Barbara; Calvani, Mauro; Grammatico, Paola - 01i Case report
rivista: PSYCHIATRIC GENETICS (Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 86-90 - issn: 0955-8829 - wos: WOS:000480700600003 (3) - scopus: 2-s2.0-85065045130 (4)
11573/1138714 - 2018 -
c-MET receptor as potential biomarker and target molecule for malignant testicular germ cell tumors Corano Scheri, K; Leonetti, E; Laino, L; Gigantino, V; Gesualdi, L; Grammatico, P; Bizzari, M; Franco, R; Oosterhuis, Jw; Stoop, H; Looijenga, Lhj; Ricci, G; Catizone, A. - 01a Articolo in rivista
rivista: ONCOTARGET (Albany, N.Y. : Impact Journals) pp. 31842-31860 - issn: 1949-2553 - wos: (0) - scopus: 2-s2.0-85054934970 (12)
11573/1065166 - 2018 -
Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia D’Andrea, Elvira; Lagerberg, Tyra; De Vito, Corrado; Pitini, Erica; Marzuillo, Carolina; Massimi, Azzurra; Vacchio, Maria Rosaria; Grammatico, Paola; Villari, Paolo - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF HUMAN GENETICS (-NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON, ENGLAND, N1 9XW
-S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 1-9 - issn: 1018-4813 - wos: WOS:000429542400010 (14) - scopus: 2-s2.0-85040997702 (13)
11573/1133695 - 2018 -
Correction: Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia D'andrea, Elvira; Lagerberg, Tyra; De Vito, Corrado; Pitini, Erica; Marzuillo, Carolina; Massimi, Azzurra; Vacchio, Maria Rosaria; Grammatico, Paola; Villari, Paolo - 01b Commento, Erratum, Replica e simili
rivista: EUROPEAN JOURNAL OF HUMAN GENETICS (-NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON, ENGLAND, N1 9XW
-S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. - - issn: 1018-4813 - wos: WOS:000443154200023 (0) - scopus: 2-s2.0-85049570955 (1)
11573/1028998 - 2018 -
Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis Majore, Silvia; Bonaccorsi Di Patti, Maria Carmela; Valiante, Michele; Polticelli, Fabio; Cortese, Andrea; Di Bartolomeo, Sabrina; De Bernardo, Carmelilia; De Muro, Marianna; Faienza, Fiorella; Radio, Francesca Clementina; Grammatico, Paola; Musci, Giovanni - 01a Articolo in rivista
rivista: BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE (Elsevier BV:PO Box 211, 1000 AE Amsterdam Netherlands:011 31 20 4853757, 011 31 20 4853642, 011 31 20 4853641, EMAIL: nlinfo-f@elsevier.nl, INTERNET: http://www.elsevier.nl, Fax: 011 31 20 4853598) pp. 464-470 - issn: 0925-4439 - wos: WOS:000424074300013 (6) - scopus: 2-s2.0-85034434435 (7)
11573/1156479 - 2018 -
Two novel RHD alleles encoding truncated, nonfunctional D polypeptides Matteocci, Antonella; Mancuso, Tommaso; Pirelli, Federica; Hailemariam, Tiruneh; Moscetti, Alessandra; Castagna, Katiuscia; Collaretti, Angela; Rogai, Letizia; Nespoli, Guido; Grammatico, Paola; Pierelli, Luca - 01a Articolo in rivista
rivista: TRANSFUSION (American Association of Blood Banks) pp. - - issn: 1537-2995 - wos: WOS:000444080700050 (0) - scopus: 2-s2.0-85046434517 (0)
11573/1199296 - 2018 -
Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder Morlino, Silvia; Dordoni, Chiara; Sperduti, Isabella; Clark, Carol J; Piedimonte, Caterina; Fontana, Andrea; Colombi, Marina; Grammatico, Paola; Copetti, Massimiliano; Castori, Marco - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS (Hoboken, N.J. : Wiley-Liss, c2003-) pp. - - issn: 1552-4841 - wos: WOS:000454541200003 (4) - scopus: 2-s2.0-85057097284 (4)
11573/1151723 - 2018 -
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement Pascolini, Giulia; Agolini, Emanuele; Majore, Silvia; Novelli, Antonio; Grammatico, Paola; Digilio, Maria Cristina - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (Harcourt Publishers Limited:Foots Cray High Street, Sidcup Kent DA14 5HP United Kingdom:011 44 20 83085700, EMAIL: journals@harcourt.com, INTERNET: http://www.harcourt-international.com, Fax: 011 44 20 83085876) pp. 552-557 - issn: 1090-3798 - wos: WOS:000431161700031 (8) - scopus: 2-s2.0-85042163201 (11)
11573/1151451 - 2018 -
Exploring relationships between joint hypermobility and neurodevelopment in children (4–13 years) with hereditary connective tissue disorders and developmental coordination disorder Piedimonte, Caterina; Penge, Roberta; Morlino, Silvia; Sperduti, Isabella; Terzani, Andrea; Giannini, Maria Teresa; Colombi, Marina; Grammatico, Paola; Cardona, Francesco; Castori, Marco - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS (Hoboken, N.J. : Wiley-Liss, c2003-) pp. 546-556 - issn: 1552-4841 - wos: WOS:000442846000002 (18) - scopus: 2-s2.0-85052506797 (16)
11573/1176633 - 2017 -
A novel germline mutation in CDK4 codon 24 associated to familial melanoma Bottillo, I; La Starza, Sonia Roberta; Radio, F C; Molica, C; Pedace, L; Pierini, T; De Bernardo, C; Stingeni, L; Bargiacchi, Sara; Paiardini, A; Janson, G; Mecucci, C; Grammatico, P - 01a Articolo in rivista
rivista: CLINICAL GENETICS (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. 934-935 - issn: 0009-9163 - wos: WOS:000427471000027 (5) - scopus: 2-s2.0-85043995463 (5)
11573/1473706 - 2017 -
Malattie ereditarie sistemiche del tessuto connettivo Castori, M; Grammatico, P - 02a Capitolo o Articolo
libro: Genetica Umana e Medica - ()
11573/1155402 - 2017 -
Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction Defects Gerbino, Andrea; Bottillo, Irene; Milano, Serena; Lipari, Martina; De Zio, Roberta; Morlino, Silvia; Mola, Maria Grazia; Procino, Giuseppe; Re, Federica; Zachara, Elisabetta; Grammatico, Paola; Svelto, Maria; Carmosino, Monica - 01a Articolo in rivista
rivista: CELLULAR PHYSIOLOGY AND BIOCHEMISTRY (S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 1559-1577 - issn: 1015-8987 - wos: WOS:000418612700025 (12) - scopus: 2-s2.0-85037359256 (12)
11573/964190 - 2017 -
COL6A5 variants in familial neuropathic chronic itch Martinelli Boneschi, Filippo; Colombi, Marina; Castori, Marco; Devigili, Grazia; Eleopra, Roberto; Malik, Rayaz A.; Ritelli, Marco; Zoppi, Nicoletta; Dordoni, Chiara; Sorosina, Melissa; Grammatico, Paola; Fadavi, Hassan; Gerrits, Monique M.; Almomani, Rowida; Faber, Catharina G.; Merkies, Ingemar S. J.; Toniolo, Daniela; Cocca, Massimiliano; Doglioni, Claudio; Waxman, Stephen G.; Dib Hajj, Sulayman D.; Taiana, Michela M.; Sassone, Jenny; Lombardi, Raffaella; Cazzato, Daniele; Zauli, Andrea; Santoro, Silvia; Marchi, Margherita; Lauria, Giuseppe - 01a Articolo in rivista
rivista: BRAIN (-Oxford: Oxford University Press
-Oxford: Clarendon Press
-London: Macmillan
-London: Butterworths Scientific Publications, 1878-) pp. aww343- - issn: 0006-8950 - wos: WOS:000397317100015 (19) - scopus: 2-s2.0-85015658267 (20)
11573/1285423 - 2017 -
Identification of a Second HOXA2 Nonsense Mutation in a Family with Autosomal Dominant Non-Syndromic Microtia and distinctive ear morphology Piceci Sparascio, Francesca; Morlino, S.; Castori, M.; Buffone, E.; De Luca, A.; Grammatico, P.; Guida, V. - 04d Abstract in atti di convegno
congresso: Congresso Nazionale Sigu, Società Italiana di Genetica Umana (Turin; Italy)
libro: clinical genetics - ()
11573/1281939 - 2017 -
Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology Piceci, F.; Morlino, S.; Castori, M.; Buffone, E.; De Luca, A.; Grammatico, P.; Guida, V. - 01a Articolo in rivista
rivista: CLINICAL GENETICS (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. 774-779 - issn: 0009-9163 - wos: WOS:000399353200015 (13) - scopus: 2-s2.0-84987665797 (16)
11573/964197 - 2017 -
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations Ritelli, Marco; Morlino, Silvia; Giacopuzzi, Edoardo; Bernardini, Laura; Torres, Barbara; Santoro, Graziano; Ravasio, Viola; Chiarelli, Nicola; D'angelantonio, Daniela; Novelli, Antonio; Grammatico, Paola; Colombi, Marina; Castori, Marco - 01a Articolo in rivista
rivista: CLINICAL GENETICS (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. - - issn: 0009-9163 - wos: WOS:000418355600014 (17) - scopus: 2-s2.0-85027706832 (16)
11573/931868 - 2016 -
Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy Bottillo, Irene; D'angelantonio, Daniela; Caputo, Viviana; Paiardini, Alessandro; Lipari, Martina; De Bernardo, Carmelilia; Majore, Silvia; Castori, Marco; Zachara, Elisabetta; Re, Federica; Grammatico, Paola - 01a Articolo in rivista
rivista: DATA IN BRIEF (New York : Elsevier Inc.) pp. 607-613 - issn: 2352-3409 - wos: WOS:000453166200095 (0) - scopus: 2-s2.0-84962574347 (0)
11573/878491 - 2016 -
A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review Bottillo, Irene; Giordano, Carla; Cerbelli, Bruna; D'angelantonio, Daniela; Lipari, Martina; Polidori, Taisia; Majore, Silvia; Bertini, Enrico; D'amico, Adele; Giannarelli, Diana; Bernardo, Carmelilia De; Masuelli, Laura; Musumeci, Francesco; Avella, Andrea; Re, Federica; Zachara, Elisabetta; D'amati, Giulia; Grammatico, Paola - 01i Case report
rivista: CARDIOVASCULAR PATHOLOGY (Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680) pp. 423-431 - issn: 1054-8807 - wos: WOS:000389519400011 (29) - scopus: 2-s2.0-84981731627 (33)
11573/964161 - 2016 -
Clinical and molecular characterization of two patients with palmoplantar keratoderma–congenital alopecia syndrome type 2 Castori, M; Morlino, S.; Sana, M. E.; Paradisi, M.; Tadini, G.; Angioni, A.; Malacarne, M.; Grammatico, Paola; Iascone, M.; Forzano, F. - 01a Articolo in rivista
rivista: CLINICAL AND EXPERIMENTAL DERMATOLOGY (Blackwell Science Limited:PO Box 88, Oxford OX2 0NE United Kingdom:011 44 1865 776868, 011 44 1865 206038, EMAIL: journals.cs@blacksci.co.uk, INTERNET: http://www.blackwell-science.com, Fax: 011 44 1865 721205) pp. 632-635 - issn: 0307-6938 - wos: WOS:000380056400009 (2) - scopus: 2-s2.0-84978249335 (2)
11573/1207372 - 2016 -
Variability in a three-generation family with pierre robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16 Castori, Marco; Bottillo, Irene; Morlino, Silvia; Barone, Chiara; Cascone, Piero; Grammatico, Paola; Laino, Luigi; Polimeni, Antonella; Pizzuti, Antonio; Silvestri, Alessandro; Roggini, Mario; Tarani, Luigi; Papoff, Paola; Giancotti, Antonella; Manganaro, Lucia; Lenzi, Jacopo; Sforzolini, Giovanna Scassellati - 01a Articolo in rivista
rivista: BIRTH DEFECTS RESEARCH. PART A, CLINICAL AND MOLECULAR TERATOLOGY (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 61-68 - issn: 1542-0752 - wos: WOS:000370644100007 (8) - scopus: 2-s2.0-84983098684 (9)
11573/964116 - 2016 -
Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes Cazzato, Daniele; Castori, Marco; Lombardi, Raffaella; Caravello, Francesca; Bella, Eleonora Dalla; Petrucci, Antonio; Grammatico, Paola; Dordoni, Chiara; Colombi, Marina; Lauria, Giuseppe - 01a Articolo in rivista
rivista: NEUROLOGY (Wolters Kluwer
Hagerstown MD: Lippincott Williams & Wilkins
Cleveland Ohio: Advanstar Communications) pp. 155-159 - issn: 0028-3878 - wos: WOS:000381470700034 (57) - scopus: 2-s2.0-84978999259 (59)
11573/964182 - 2016 -
Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception Chiabrando, Deborah; Castori, Marco; Di Rocco, Maja; Ungelenk, Martin; Gießelmann, Sebastian; Di Capua, Matteo; Madeo, Annalisa; Grammatico, Paola; Bartsch, Sophie; Hübner, Christian A.; Altruda, Fiorella; Silengo, Lorenzo; Tolosano, Emanuela; Kurth, Ingo - 01a Articolo in rivista
rivista: PLOS GENETICS (San Francisco, CA : Public Library of Science, c2005-) pp. e1006461- - issn: 1553-7390 - wos: WOS:000392138700015 (33) - scopus: 2-s2.0-85007575073 (36)
11573/964106 - 2016 -
Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family Cosentino, Ilaria; Zeri, Fabrizio; Swann, Peter G.; Majore, Silvia; Radio, Francesca Clementina; Palumbo, Paolo; Grammatico, Paola; Petitti, Vincenzo - 01a Articolo in rivista
rivista: OPHTHALMIC GENETICS (-TAYLOR & FRANCIS INC, 325 CHESTNUT ST, SUITE 800, PHILADELPHIA, USA, PA, 19106
-Aeolus Press:PO Box 740, 4116 ZJ Buren Netherlands:011 31 344 6572055, Fax: 011 31 344 6572562) pp. 318-322 - issn: 1381-6810 - wos: WOS:000381375700013 (4) - scopus: 2-s2.0-84958042590 (5)
11573/892807 - 2016 -
Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement Laino, Luigi; Bottillo, Irene; Piedimonte, Caterina; Bernardini, Laura; Torres, Barbara; Grammatico, Barbara; Bargiacchi, Simone; Mulargia, Claudia; Calvani, Mauro; Cardona, Francesco Carmelo Giovanni; Castori, Marco; Grammatico, Paola - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (Harcourt Publishers Limited:Foots Cray High Street, Sidcup Kent DA14 5HP United Kingdom:011 44 20 83085700, EMAIL: journals@harcourt.com, INTERNET: http://www.harcourt-international.com, Fax: 011 44 20 83085876) pp. 971-976 - issn: 1090-3798 - wos: WOS:000386322300027 (7) - scopus: 2-s2.0-84979649999 (6)
11573/845848 - 2015 -
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. Bottillo, Irene; D'angelantonio, Daniela; Caputo, Viviana; Paiardini, Alessandro; Lipari, Martina; De Bernardo, C; Giannarelli, D; Pizzuti, Antonio; Majore, S; Castori, M; Zachara, E; Re, F; Grammatico, Paola - 01a Articolo in rivista
rivista: GENE (Amsterdam Netherlands: Elsevier BV) pp. 227-235 - issn: 0378-1119 - wos: WOS:000369191500017 (25) - scopus: 2-s2.0-84952864713 (30)
11573/854553 - 2015 -
R-spondin 1/Dickkopf-1/beta-catenin machinery is involved in testicular embryonic angiogenesis Caruso, Maria; Ferranti, Francesca; Corano Scheri, Katia; Dobrowolny, Gabriella; Ciccarone, Fabio; Grammatico, Paola; Catizone, Angela; Ricci, Giulia - 01a Articolo in rivista
rivista: PLOS ONE (San Francisco, CA : Public Library of Science) pp. 1-25 - issn: 1932-6203 - wos: WOS:000353376800067 (6) - scopus: 2-s2.0-84929492992 (6)
11573/782128 - 2015 -
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. Castori, M; Dordoni, C; Morlino, Silvia; Sperduti, I; Ritelli, M; Valiante, M; Chiarelli, N; Zanca, A; Celletti, C; Venturini, M; Camerota, F; Calzavara-Pinton, P; Grammatico, P; Colombi, M. - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS (Hoboken, NJ : Wiley-Liss, c2003) pp. 43-53 - issn: 1552-4868 - wos: WOS:000352112700004 (23) - scopus: 2-s2.0-84925657452 (30)
11573/782117 - 2015 -
Gastrointestinal and nutritional issues in joint hypermobility syndrome/ehlers-danlos syndrome, hypermobility type. Castori, M; Morlino, S; Pascolini, G; Blundo, C; Grammatico, Paola - 01a Articolo in rivista
11573/782122 - 2015 -
Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: Delineation of cerebro-dermato-osseous-dysplasia. Castori, M; Pascolini, G; Parisi, V; Sana, Me; Novelli, A; Nürnberg, P; Iascone, M; Grammatico, Paola - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 842-851 - issn: 1552-4833 - wos: WOS:000352019000028 (1) - scopus: 2-s2.0-84925713532 (1)
11573/845839 - 2015 -
Axial skeletogenesis in human aneuploidies: a radiographic study of 145 second trimester fetuses Castori, Marco; Servadei, Francesca; Laino, Luigi; Pascolini, Giulia; Fabbri, Romano; Cifani, Anna Elisabetta; Scassellati Sforzolini, Giovanna; Silvestri, Evelina; Grammatico, Paola - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. - - issn: 1552-4825 - wos: WOS:000373098900019 (7) - scopus: 2-s2.0-84959465874 (10)
11573/927392 - 2015 -
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome Kortüm, F; Caputo, Viviana; Bauer, Ck; Stella, L; Ciolfi, Andrea; Alawi, M; Bocchinfuso, G; Flex, Elisabetta; Dentici, Maria Lisa; Grammatico, Paola; Korenke, Gc; Leuzzi, Vincenzo; Mowat, D; Nair, Ld; Nguyen, Thi Thu Van; Thierry, P; White, Sm; Dallapiccola, B; Pizzuti, Antonio; Campeau, Pm; Tartaglia, M; Kutsche, K.; Paolacci, Stefano - 01a Articolo in rivista
rivista: NATURE GENETICS () pp. 661-667 - issn: 1546-1718 - wos: WOS:000355386500019 (150) - scopus: 2-s2.0-84930092141 (160)
11573/782126 - 2015 -
Connective tissue, Ehlers-Danlos syndrome(s), and head and cervical pain. Marco Castori, Silvia Morlino; Grammatico, Paola - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS (Hoboken, NJ : Wiley-Liss, c2003) pp. 84-96 - issn: 1552-4868 - wos: WOS:000352112700007 (32) - scopus: 2-s2.0-84925658479 (44)
11573/782120 - 2015 -
Environmental, parental and gestational factors that influence the occurrence of hypospadias in male patients. Marrocco, G; Grammatico, Paola; Vallasciani, S; Gulia, C; Zangari, A; Marrocco, F; Bateni, Zh; Porrello, A; Piergentili, R. - 01a Articolo in rivista
rivista: JOURNAL OF PEDIATRIC UROLOGY (ELSEVIER
The Journal of Pediatric Urology Editorial Office, Elsevier Ltd,
The Boulevard, Langford Lane,
Kidlington, Oxon OX5 1GB, UK) pp. 12-19 - issn: 1477-5131 - wos: WOS:000351948300005 (28) - scopus: 2-s2.0-84942519261 (28)
11573/782129 - 2015 -
SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia. Mauri, L; Franzoni, A; Scarcello, M; Sala, S; Garavelli, L; Modugno, A; Grammatico, Paola; Patrosso, Mc; Piozzi, E; Del Longo, A; Gesu, Gp; Manfredini, E; Primignani, P; Damante, G; Penco, S. - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF MEDICAL GENETICS (AMSTERDAM, NETHERLANDS,: ELSEVIER SCIENCE BV) pp. 66-70 - issn: 1769-7212 - wos: WOS:000350228100003 (11) - scopus: 2-s2.0-84923312582 (15)
Radio, C; Grammatico, P - 02a Capitolo o Articolo
libro: Atlas Genet Cytogenet Oncol Haematol - ()
11573/845849 - 2015 -
Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes Radio, Francesca Clementina; Majore, Silvia; Aurizi, Caterina; Sorge, Fiammetta; Biolcati, Gianfranco; Bernabini, Sara; Giotti, Irene; Torricelli, Francesca; Giannarelli, Diana; De Bernardo, Carmelilia; Grammatico, Paola - 01a Articolo in rivista
rivista: BLOOD CELLS, MOLECULES, & DISEASES (Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680) pp. 71-75 - issn: 1079-9796 - wos: WOS:000354912800014 (22) - scopus: 2-s2.0-84929161673 (24)
11573/617467 - 2014 -
Three missense mutations found in the KEL gene lead to Kmod or K0 red blood cell phenotypes A., Matteocci; T., Mancuso; A., Moscetti; A., Collaretti; K., Castagna; C., Spaccino; T., Hutchinson; Grammatico, Paola; Pierelli, Luca - 01a Articolo in rivista
rivista: TRANSFUSION (Editore attuale:BLACKWELL PUBLISHING [Arlington Va. etc.]: [American Association of Blood Banks etc.]) pp. 3216-3221 - issn: 0041-1132 - wos: WOS:000346192600027 (3) - scopus: 2-s2.0-84916891832 (3)
11573/556160 - 2014 -
Detection of a novel HLA-B allele, HLA-B*08:111, in an Italian bone marrow donor Barzi, Camilla; C., Vecchiato; M., Catalano; Grammatico, Paola; A., Moscetti - 01a Articolo in rivista
rivista: TISSUE ANTIGENS (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. 57-59 - issn: 0001-2815 - wos: WOS:000328586700013 (2) - scopus: 2-s2.0-84890797315 (3)
11573/617469 - 2014 -
Fast and early mandibular osteogenetic distraction in a 24-day-old female newborn with Larsen syndrome. Basile, Emanuela; Ramieri, Valerio; Papoff, Paola; Castori, Marco; Grammatico, Paola; Bianca, Cristiana; Angeletti, Diletta; Cascone, Piero - 01a Articolo in rivista
rivista: THE JOURNAL OF CRANIOFACIAL SURGERY (Philadelphia, Pa. : Lippincott Williams & Wilkins) pp. e304-e307 - issn: 1536-3732 - wos: WOS:000337098200037 (1) - scopus: 2-s2.0-84900805054 (2)
11573/556156 - 2014 -
Novel SMAD4 mutation causing Myhre syndrome Caputo, Viviana; Gianfranco, Bocchinfuso; Marco, Castori; Traversa, Alice; Pizzuti, Antonio; Lorenzo, Stella; Grammatico, Paola; Marco, Tartaglia - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 1835-1840 - issn: 1552-4833 - wos: WOS:000337633300035 (27) - scopus: 2-s2.0-84902540055 (26)
11573/910567 - 2014 -
Spatio-temporal distribution of RSPO1/DKK1 machinery in testis embryonic development and its role in testicular angiogenesis Caruso, M.; Ferranti, F.; Corano Scheri, Katia; Grammatico, Paola; Catizone, Angiolina; Ricci, G. - 04f Poster
congresso: ABCD Meeting on Stem Cells, Development and Regenerative Medicine (Salerno, Italy)
libro: ABCD Meeting on Stem Cells, Development and Regenerative Medicine - ()
11573/617464 - 2014 -
A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation. Castori, M; Bottillo, Irene; D'angelantonio, Daniela; Morlino, S; De Bernardo, C; Scassellati Sforzolini, G; Silvestri, E; Grammatico, Paola - 01a Articolo in rivista
rivista: MOLECULAR SYNDROMOLOGY (Basel : S. Karger AG, cop. 2010-) pp. 241-244 - issn: 1661-8769 - wos: (0) - scopus: 2-s2.0-84906881136 (15)
11573/617468 - 2014 -
An Additional Patient With 3q27.3 Microdeletion Syndrome. Castori, M; Bottillo, Irene; Laino, Luigi; Morlino, S; Grammatico, B; Grammatico, Paola - 01a Articolo in rivista
rivista: JOURNAL OF CHILD NEUROLOGY (Thousand Oaks: Sage
Hamilton Ont.: Decker Periodicals, 1994-) pp. - - issn: 0883-0738 - wos: WOS:000349986300016 (2) - scopus: 2-s2.0-84923354726 (4)
11573/664092 - 2014 -
Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: A study of intrafamilial and interfamilial variability in 23 Italian pedigrees. Castori, Marco; Dordoni, C; Valiante, M; Sperduti, I; Ritelli, M; Morlino, S; Chiarelli, N; Celletti, C; Venturini, M; Camerota, F; Calzavara Pinton, P; Grammatico, Paola; Colombi, M. - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. - - issn: 1552-4833 - wos: WOS:000345293300008 (60) - scopus: 2-s2.0-84911092230 (62)
11573/556154 - 2014 -
Towards a re-thinking of the clinical significance of generalized joint hypermobility, joint hypermobiity syndrome, and Ehlers-Danlos syndrome, hypermobility type Castori, Marco; Silvia, Morlino; Grammatico, Paola - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 588-590 - issn: 1552-4825 - wos: WOS:000331978700003 (10) - scopus: 2-s2.0-84894225459 (9)
11573/556149 - 2014 -
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain Castori, Marco; Silvia, Morlino; Marco, Ritelli; Francesco, Brancati; Carmelilia De, Bernardo; Marina, Colombi; Grammatico, Paola - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 528-534 - issn: 1552-4825 - wos: WOS:000331067100039 (15) - scopus: 2-s2.0-84892838288 (14)
11573/556165 - 2014 -
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. Daniela De, Rocco; Roberta, Bottega; Enrico, Cappelli; Simona, Cavani; Maria, Criscuolo; Elena, Nicchia; Fabio, Corsolini; Chiara, Greco; Adriana, Borriello; Johanna, Svahn; Marta, Pillon; Cristina, Mecucci; Gabriella, Casazza; Federico, Verzegnassi; Chiara, Cugno; Anna, Locasciulli; Piero, Farruggia; Daniela, Longoni; Ugo, Ramenghi; Barberi, Walter; Fabio, Tucci; Silverio, Perrotta; Grammatico, Paola; Helmut, Hanenberg; Fulvio Della, Ragione; Carlo, Dufour; Anna, Savoia - 01a Articolo in rivista
rivista: HAEMATOLOGICA (Fondaz Ferrata Storti:Strada Nuova 134, 27100 Pavia Italy:011 39 0382 531182, EMAIL: office@haematologica.it, Fax: 011 39 0382 27721) pp. 1022-1031 - issn: 0390-6078 - wos: WOS:000342832100018 (33) - scopus: 2-s2.0-84901713630 (38)
11573/524210 - 2014 -
A melanoma immune response signature including Human Leukocyte Antigen-E Elisa, Tremante; Agnese, Ginebri; Elisa Lo, Monaco; Barbara, Benassi; Pasquale, Frascione; Grammatico, Paola; Sandra, Cappellacci; Caterina, Catricala; Diego, Arcelli; Pier Giorgio, Natali; Franco Di, Filippo; Marcella, Mottolese; Paolo, Visca; Maria, Benevolo; Patrizio, Giacomini - 01a Articolo in rivista
rivista: PIGMENT CELL & MELANOMA RESEARCH (Oxford : Blackwell Munksgaard, 2008-) pp. 103-112 - issn: 1755-1471 - wos: WOS:000328631100016 (19) - scopus: 2-s2.0-84890788906 (23)
11573/853977 - 2014 -
Follow-up in patients with BRCA mutations; focus on ovarian cancer risk : a single-center experience Giovannoni, Sara; Maria, Campennì Giuseppe; Palleschi, Michela; Telesca, Marianna; Miglio, Elena; Cipolla, Valentina; De Felice, Carlo; Ballesio, Laura; Pediconi, Federica; Carmelilia, De Bernardo; Grammatico, Paola; Naso, Giuseppe; De Marchis, Laura - 04f Poster
rivista: INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER (Blackwell Science Incorporated:350 Main Street, Sixth Floor:Malden, MA 02148:(888)661-5800, (781)388-8250, EMAIL: csjournals@blacksci.com, INTERNET: http://www.blackwell-science.com, Fax: (781)388-8232) pp. 71-71 - issn: 1048-891X - wos: WOS:000344611300065 (0) - scopus: (0)
congresso: ESGO 2014 State of the Art Conference: Follow up in Gynaecological Malignancies (Torino)
11573/617465 - 2014 -
Disorders of sex development: a genetic study of patients in a multidisciplinary clinic. Laino, Luigi; Silvia, Majore; N., Preziosi; Grammatico, Barbara; C., De Bernardo; S., Scommegna; A. M., Rapone; G., Marrocco; Bottillo, Irene; Grammatico, Paola - 01a Articolo in rivista
rivista: ENDOCRINE CONNECTIONS (Bristol : BioScientifica) pp. 180-192 - issn: 2049-3614 - wos: WOS:000209774100005 (15) - scopus: 2-s2.0-84978300398 (15)
11573/696003 - 2014 -
A novel variant in the 3' untranslated region of the CDK4 gene: interference with microRNA target sites and role in increased risk of cutaneous melanoma. Pedace, L; Cozzolino, Am; Barboni, L; De Bernardo, C; Grammatico, Paola; De Simone, P; Buccini, P; Ferrari, A; Catricalà, C; Colombo, T; Donati, P; Morrone, A. - 01a Articolo in rivista
rivista: CANCER GENETICS (New York, NY : Elsevier) pp. 168-169 - issn: 2210-7762 - wos: WOS:000337330900010 (2) - scopus: 2-s2.0-84901612215 (3)
11573/617466 - 2014 -
Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation. Pedace, Lucia; Laino, Luigi; Nicoletta, Preziosi; Maria Stella, Valentini; Salvatore, Scommegna; Anna Maria, Rapone; Nino, Guarino; Brunetto, Boscherini; Carmelilia De, Bernardo; Giacinto, Marrocco; Silvia, Majore; Grammatico, Paola - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 2938-2946 - issn: 1552-4825 - wos: WOS:000344187200037 (17) - scopus: 2-s2.0-84910602420 (20)
11573/543291 - 2014 -
TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy Radio, Francesca Clementina; Silvia, Majore; Binni, Francesco; Michele, Valiante; Bianca Maria, Ricerca; Carmelilia De, Bernardo; Grammatico, Paola - 01a Articolo in rivista
rivista: BLOOD CELLS, MOLECULES, & DISEASES (Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680) pp. 83-87 - issn: 1079-9796 - wos: WOS:000330489100001 (16) - scopus: 2-s2.0-84891901924 (18)
11573/695994 - 2014 -
Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome Servadei, F; Laino, Luigi; Pediatric Craniofacial Malformation Study, Group; Grammatico, Paola; Castori, Marco; Polimeni, Antonella; Pizzuti, Antonio; Cascone, Piero; Silvestri, Alessandro; Roggini, Mario; Tarani, Luigi; Papoff, Paola; Giancotti, Antonella; Manganaro, Lucia; Lenzi, Jacopo - 01a Articolo in rivista
rivista: BIRTH DEFECTS RESEARCH. PART A, CLINICAL AND MOLECULAR TERATOLOGY (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 1-13 - issn: 1542-0752 - wos: WOS:000356674800011 (4) - scopus: 2-s2.0-84931352442 (7)
11573/617462 - 2014 -
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3. Vetro, A; Dehghani, Mr; Kraoua, L; Giorda, R; Beri, S; Cardarelli, L; Merico, M; Manolakos, E; Bustamante, Ap; Castro, A; Radi, O; Camerino, G; Brusco, A; Sabaghian, M; Sofocleous, C; Forzano, F; Palumbo, P; Palumbo, O; Calvano, S; Zelante, L; Grammatico, Paola; Giglio, S; Basly, M; Chaabouni, M; Carella, M; Russo, G; Bonaglia, Mc; Zuffardi, O. - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF HUMAN GENETICS (-NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON, ENGLAND, N1 9XW
-S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 1-8 - issn: 1018-4813 - wos: WOS:000358006100009 (53) - scopus: 2-s2.0-84937526184 (58)
11573/555913 - 2013 -
Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report Bottillo, Irene; Castori, Marco; Carmelilia De, Bernardo; Romano, Fabbri; Grammatico, Barbara; Nicoletta, Preziosi; Giovanna, Scassellati; Evelina, Silvestri; Spagnuolo, Antonella; Laino, Luigi; Grammatico, Paola - 01i Case report
rivista: BMC RESEARCH NOTES (London : BioMed Central) pp. 376-381 - issn: 1756-0500 - wos: (0) - scopus: 2-s2.0-84884297432 (23)
11573/738260 - 2013 -
Pharmacogenetics in the era of next generation sequencing Bottillo, Irene; Morrone, A; Grammatico, Paola - 01g Articolo di rassegna (Review)
rivista: JOURNAL OF PHARMACOVIGILANCE (Los Angeles, CA : OMICS Publishing Group, [2013]-) pp. - - issn: 2329-6887 - wos: (0) - scopus: (0)
11573/524204 - 2013 -
In vitro reconstruction of epidermis from primary Darier's disease keratinocytes replicates the histopathological phenotype C. L., De Rouvroit; Celine, Charlier; Damien, Lederer; Valerie De, Glas; Evelyne De, Vuyst; Jean Louis, Dargent; Grammatico, Paola; Binni, Francesco; Catherine, Rousseau; Jean Luc, Hennecker; Arjen F., Nikkels; Yves, Poumay - 01a Articolo in rivista
rivista: JOURNAL OF DERMATOLOGICAL SCIENCE (Elsevier Science Ireland Limited:PO Box 85, Limerick Ireland:011 353 61 709600, 011 353 61 61944, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 353 61 709114) pp. 138-140 - issn: 0923-1811 - wos: WOS:000322686300008 (3) - scopus: 2-s2.0-84880330288 (4)
11573/1473696 - 2013 -
Diagnostica genetica dell’infertilità maschile Castori, M; Grammatico, P - 02a Capitolo o Articolo
libro: Biotecnologie della riproduzione umana. - ()
11573/1473700 - 2013 -
Cause genetiche dell’infertilità femminile Castori, M; Grammatico, P - 02a Capitolo o Articolo
libro: femminile. Biotecnologie della riproduzione umana. - ()
11573/1473702 - 2013 -
Diagnostica genetica dell’infertilità femminile Castori, M; Grammatico, P - 02a Capitolo o Articolo
libro: Biotecnologie della riproduzione umana. - ()
11573/556150 - 2013 -
Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type Castori, Marco; Silvia, Morlino; Claudia, Celletti; Giulia, Ghibellini; Michela, Bruschini; Grammatico, Paola; Carlo, Blundo; Filippo, Camerota - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 2989-3004 - issn: 1552-4825 - wos: WOS:000330038000007 (112) - scopus: 2-s2.0-84888062140 (112)
11573/543289 - 2013 -
The "Old Theme" of Variability Versus Transitory Phenotypes in Thanatophoric Dysplasia Type 1: Two 19-Week-Old Fetuses With ("San Diego" Variant) and Without Ragged Metaphyses Due to the Same FGFR3 Mutation Castori, Marco; Silvia, Morlino; Radio, Francesca Clementina; Carmelilia De, Bernardo; Grammatico, Paola - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 2675-2677 - issn: 1552-4825 - wos: WOS:000327862700041 (1) - scopus: 2-s2.0-84884977923 (3)
11573/524211 - 2013 -
Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review Castori, Marco; Valiante, Michele; Giulia, Pascolini; Leuzzi, Vincenzo; Pizzuti, Antonio; Grammatico, Paola - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF MEDICAL GENETICS (AMSTERDAM, NETHERLANDS,: ELSEVIER SCIENCE BV) pp. 570-576 - issn: 1769-7212 - wos: WOS:000325485900008 (26) - scopus: 2-s2.0-84885388227 (29)
11573/1473694 - 2013 -
Cause genetiche dell’infertilità maschile. Catori, M; Grammatico, P - 02a Capitolo o Articolo
libro: Biotecnologie della riproduzione umana. - ()
11573/524206 - 2013 -
Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants H. E., Puntervoll; X. R., Yang; H. H., Vetti; I. M., Bachmann; M. F., Avril; M., Benfodda; C., Catricala; S., Dalle; A. B., Duval Modeste; P., Ghiorzo; Grammatico, Paola; M., Harland; N. K., Hayward; H. H., Hu; T., Jouary; T., Martin Denavit; A., Ozola; J. M., Palmer; L., Pastorino; D., Pjanova; N., Soufir; S. J., Steine; A. J., Stratigos; L., Thomas; J., Tinat; H., Tsao; R., Veinalde; M. A., Tucker; Bbd Bressac De, Paillerets; J. A., Newton Bishop; A. M., Goldstein; L. A., Akslen; A., Molven - 01a Articolo in rivista
rivista: JOURNAL OF MEDICAL GENETICS (BMJ / British Medical Journal Publishing Group:PO Box 299, London WC1H 9TD United Kingdom:011 44 20 73836270, EMAIL: subscriptions@bmjgroup.com, INTERNET: http://www.bmjpg.com/bmj, Fax: 011 44 20 73836402) pp. 264-270 - issn: 0022-2593 - wos: WOS:000316114800008 (83) - scopus: 2-s2.0-84878886596 (86)
11573/524205 - 2013 -
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: Results of an Italian multicenter study Nicoletta, Resta; Daniela, Pierannunzio; Stella A., Lenato Gm; Riccardo, Capocaccia; Rosanna, Bagnulo; Patrizia, Lastella; Francesco Claudio, Susca; Bozzao, Cristina; Daria Carmela, Loconte; Carlo, Sabba; Emanuele, Urso; Paola, Sala; Mara, Fornasarig; Grammatico, Paola; Ada, Piepoli; Cristina, Host; Daniela, Turchetti; Alessandra, Viel; Luigi, Memo; Laura, Giunti; Vittoria, Stigliano; Liliana, Varesco; Lucio, Bertario; Maurizio, Genuardi; Emanuela Lucci, Cordisco; Maria Grazia, Tibiletti; Carmela Di, Gregorio; Angelo, Andriulli; Maurizio Ponz De, Leon - 01a Articolo in rivista
rivista: DIGESTIVE AND LIVER DISEASE (-Roma: Editrice Gastroenterologica Italiana; Milano: Elsevier
-Roma: Editrice Gastroenterologica Italiana.
-Ospedaletto Pisa: Pacini) pp. 606-611 - issn: 1590-8658 - wos: WOS:000320585000014 (91) - scopus: 2-s2.0-84881222227 (110)
11573/524209 - 2013 -
Vaginoplasty for disorders of sex development. Nino, Guarino; Salvatore, Scommegna; Silvia, Majore; Anna Maria, Rapone; Luciana, Ungaro; Aldo, Morrone; Grammatico, Paola; Giacinto A., Marrocco - 01a Articolo in rivista
rivista: FRONTIERS IN ENDOCRINOLOGY (Lausanne : Frontiers Research Foundation, 2010-) pp. Art. n. 29-1-Art. n. 29-5 - issn: 1664-2392 - wos: (0) - scopus: 2-s2.0-84884176469 (10)
11573/481171 - 2013 -
Type 3 hereditary hemochromatosis in a patient from sub-Saharan Africa: Is there a link between African iron overload and TFR2 dysfunction? Silvia, Majore; Bianca Maria, Ricerca; Radio, Francesca Clementina; Francesco, Binni; Ilaria, Cosentino; Gallusi, Giulia; Carmelilia De, Bernardo; Aldo, Morrone; Grammatico, Paola - 01a Articolo in rivista
rivista: BLOOD CELLS, MOLECULES, & DISEASES (Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680) pp. 31-32 - issn: 1079-9796 - wos: WOS:000312237400005 (7) - scopus: 2-s2.0-84869887673 (8)
11573/556148 - 2013 -
Comedonal Darier disease: Report of 2 cases Viviana, Lora; Carlo, Cota; Grammatico, Paola; Pedace, Lucia; Helmut, Kerl; Lorenzo, Cerroni - 01a Articolo in rivista
rivista: JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (Mosby Year Book Incorporated:6277 Sea Harbor Drive:Orlando, FL 32887:(800)654-2452, (407)345-4000, EMAIL: hhspcs@harcourt.com, INTERNET: http://www.mosby.com, Fax: (407)363-9661, (314)432-1380) pp. e307-e309 - issn: 0190-9622 - wos: WOS:000327736900012 (9) - scopus: 2-s2.0-84887912874 (9)
11573/439396 - 2012 -
Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011 A., Novelli; F. R., Grati; L., Ballarati; L., Bernardini; D., Bizzoco; L., Camurri; R., Casalone; L., Cardarelli; P., Cavalli; R., Ciccone; M., Clementi; L., Dalpra; M., Gentile; G., Gelli; Grammatico, Paola; M., Malacarne; A. M., Nardone; V., Pecile; G., Simoni; O., Zuffardi; D., Giardino - 01a Articolo in rivista
rivista: ULTRASOUND IN OBSTETRICS & GYNECOLOGY (Parthenon Publishing:Richmond House, White Cross, South Road LA1 4QX United Kingdom:011 44 1524 585700, EMAIL: journals_parthpub@crcpress.com, INTERNET: http://www.parthpub.com, Fax: 011 44 1524 66882) pp. 384-388 - issn: 0960-7692 - wos: WOS:000302059500003 (52) - scopus: 2-s2.0-84859358210 (52)
11573/439395 - 2012 -
Genetic skin diseases predisposing to basal cell carcinoma Castori, Marco; A., Morrone; J., Kanitakis; Grammatico, Paola - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF DERMATOLOGY (Montrouge: John Libbey eurotext) pp. 299-309 - issn: 1167-1122 - wos: WOS:000305692400001 (43) - scopus: 2-s2.0-84863188714 (58)
11573/480462 - 2012 -
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene. Castori, Marco; Marco, Ritelli; Nicoletta, Zoppi; Molisso, Luisa; Nicola, Chiarelli; Fulvio, Zaccagna; Grammatico, Paola; Marina, Colombi - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 1164-1169 - issn: 1552-4825 - wos: WOS:000303000200027 (19) - scopus: 2-s2.0-84859965714 (20)
11573/439397 - 2012 -
Whorled hairless nevus of the scalp, linear hyperpigmentation, and telangiectatic nevi of the lower limbs: a novel variant of the "phacomatosis complex". Castori, Marco; Oronzo, Scarciolla; Silvia, Morlino; Liborio, Manente; Assunta, Biscaglia; Alberto, Fragasso; Grammatico, Paola - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 445-449 - issn: 1552-4825 - wos: WOS:000299331900025 (1) - scopus: 2-s2.0-84856217956 (3)
11573/480458 - 2012 -
Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients Castori, Marco; Silvia, Morlino; Chiara, Dordoni; Claudia, Celletti; Filippo, Camerota; Marco, Ritelli; Aldo, Morrone; Marina, Venturini; Grammatico, Paola; Marina, Colombi - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 2176-2182 - issn: 1552-4825 - wos: WOS:000310068700012 (59) - scopus: 2-s2.0-84865554003 (67)
11573/480460 - 2012 -
Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type): Principles and proposal for a multidisciplinary approach Castori, Marco; Silvia, Morlino; Claudia, Celletti; Mauro, Celli; Aldo, Morrone; Marina, Colombi; Filippo, Camerota; Grammatico, Paola - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 2055-2070 - issn: 1552-4825 - wos: WOS:000306651400043 (108) - scopus: 2-s2.0-84864138240 (109)
11573/423555 - 2012 -
Evaluation of lower limb disability in joint hypermobility syndrome Claudia, Celletti; Castori, Marco; Grammatico, Paola; Filippo, Camerota - 01a Articolo in rivista
rivista: RHEUMATOLOGY INTERNATIONAL (Heidelberg Germany: Springer Verlag Germany) pp. 2577-2581 - issn: 0172-8172 - wos: WOS:000306827500058 (9) - scopus: 2-s2.0-84866252400 (10)
11573/494300 - 2012 -
Analysis of the miR-34a locus in 62 patients with familial cutaneous melanoma negative for CDKN2A/CDK4 screening Cozzolino, Angela Maria; Pedace, Lucia; Castori, Marco; P., De Simone; Nicoletta, Preziosi; Isabella, Sperduti; Chiara, Panetta; Mogini, Valerio; C., De Bernardo; Aldo, Morrone; Caterina, Catricala; Grammatico, Paola - 01a Articolo in rivista
rivista: FAMILIAL CANCER (Kluwer Academic Publishers, Dordrecht ; Boston) pp. 201-208 - issn: 1389-9600 - wos: WOS:000304702100007 (10) - scopus: 2-s2.0-84864652312 (9)
11573/448379 - 2012 -
Ocular features in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type: A clinical and in vivo confocal microscopy study Gharbiya, Magda; Moramarco, Antonietta; Castori, Marco; Parisi, Francesco; Claudia, Celletti; Marenco, Marco; Isabella, Mariani; Grammatico, Paola; Filippo, Camerota - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF OPHTHALMOLOGY (Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680) pp. 593-600 - issn: 0002-9394 - wos: WOS:000308115600025 (37) - scopus: 2-s2.0-84865827675 (37)
11573/442905 - 2012 -
Preliminary evidences on mitochondrial injury and impaired oxidative metabolism in breast cancer Lorenza, Putignani; Raffa, Salvatore; Roberta, Pescosolido; Teresa, Rizza; Federica Del, Chierico; Leone, Laura; Laura, Aimati; Fabrizio, Signore; Rosalba, Carrozzo; Francesco, Callea; Torrisi, Maria Rosaria; Grammatico, Paola - 01a Articolo in rivista
rivista: MITOCHONDRION (Elsevier BV:PO Box 211, 1000 AE Amsterdam Netherlands:011 31 20 4853757, 011 31 20 4853642, 011 31 20 4853641, EMAIL: nlinfo-f@elsevier.nl, INTERNET: http://www.elsevier.nl, Fax: 011 31 20 4853598) pp. 363-369 - issn: 1567-7249 - wos: WOS:000305105600001 (36) - scopus: 2-s2.0-84857718301 (38)
11573/456082 - 2012 -
Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease S., Saredi; A., Ardissone; A., Ruggieri; E., Mottarelli; L., Farina; R., Rinaldi; E., Silvestri; C., Gandioli; S., D'arrigo; F., Salerno; L., Morandi; Grammatico, Paola; C., Pantaleoni; I., Moroni; M., Mora - 01a Articolo in rivista
rivista: JOURNAL OF THE NEUROLOGICAL SCIENCES (Elsevier BV:PO Box 211, 1000 AE Amsterdam Netherlands:011 31 20 4853757, 011 31 20 4853642, 011 31 20 4853641, EMAIL: nlinfo-f@elsevier.nl, INTERNET: http://www.elsevier.nl, Fax: 011 31 20 4853598) pp. 45-50 - issn: 0022-510X - wos: WOS:000305668500006 (16) - scopus: 2-s2.0-84861580937 (18)
11573/423559 - 2011 -
Chronic fatigue syndrome is commonly diagnosed in patients with Ehlers-Danlos syndrome hypermobility type/joint hypermobility syndrome Castori, Marco; C., Celletti; Filippo, Camerota; Grammatico, Paola - 01a Articolo in rivista
rivista: CLINICAL AND EXPERIMENTAL RHEUMATOLOGY (Clinical and Experimental Rheumatology:Via S Maria 31, I 56126 Pisa Italy:011 39 050 40124, EMAIL: info@clinexprhematol.org, INTERNET: http://www.clinexprhematol.org, Fax: 011 39 050 502299) pp. 597-598 - issn: 0392-856X - wos: WOS:000293101500023 (36) - scopus: 2-s2.0-80051831964 (40)
11573/377116 - 2011 -
The nosology of Richieri-Costa/Guion-Almeida syndrome(s). Castori, Marco; Cascone, Piero; Marco, Brinelli; Iannetti, Giorgio; Grammatico, Paola - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 398-402 - issn: 1552-4825 - wos: WOS:000287153700023 (1) - scopus: 2-s2.0-79251485008 (1)
11573/439225 - 2011 -
Symptom and joint mobility progression in the joint hypermobility syndrome (Ehlers-Danlos syndrome, hypermobility type) Castori, Marco; I., Sperduti; C., Celletti; Filippo, Camerota; Grammatico, Paola - 01a Articolo in rivista
rivista: CLINICAL AND EXPERIMENTAL RHEUMATOLOGY (Clinical and Experimental Rheumatology:Via S Maria 31, I 56126 Pisa Italy:011 39 050 40124, EMAIL: info@clinexprhematol.org, INTERNET: http://www.clinexprhematol.org, Fax: 011 39 050 502299) pp. 998-1005 - issn: 0392-856X - wos: WOS:000300032600015 (81) - scopus: 2-s2.0-84857577450 (79)
11573/423550 - 2011 -
Monozygotic twin discordance for phacomatosis cesioflammea further supports the post-zygotic mutation hypothesis Castori, Marco; Stefano, Sarazani; Binni, Francesco; Francesca Romana, Pezzella; Giovanni, Cruciani; Grammatico, Paola - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 2253-2256 - issn: 1552-4825 - wos: WOS:000294182500034 (5) - scopus: 2-s2.0-84860391773 (9)
11573/664070 - 2011 -
Reassessment of oral frenula in Ehlers-Danlos syndrome: A study of 32 patients with the hypermobility type Claudia, Celletti; Castori, Marco; La Torre, Giuseppe; Grammatico, Paola; Morico, Gianfranco; Filippo, Camerota - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 3157-3159 - issn: 1552-4825 - wos: WOS:000297200300048 (9) - scopus: 2-s2.0-81955165143 (11)
11573/423749 - 2011 -
Evaluation of balance and improvement of proprioception by repetitive muscle vibration in a 15-year-old girl with joint hypermobility syndrome Claudia, Celletti; Castori, Marco; Manuela, Galli; Chiara, Rigoldi; Grammatico, Paola; Giorgio, Albertini; Filippo, Camerota - 01a Articolo in rivista
rivista: ARTHRITIS CARE & RESEARCH (Hoboken, NJ : John Wiley & Sons) pp. 775-779 - issn: 2151-464X - wos: WOS:000290441800018 (28) - scopus: 2-s2.0-79955701558 (29)
11573/395274 - 2011 -
Screening for celiac disease in the joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. Danese, Chiara Rita; Castori, Marco; Claudia, Celletti; Silvia, Amato; Caterina Lo, Russo; Grammatico, Paola; Filippo, Camerota - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 2314-2316 - issn: 1552-4825 - wos: WOS:000294182500046 (30) - scopus: 2-s2.0-84860421830 (29)
11573/423580 - 2011 -
Neuropathic pain is a common feature in Ehlers-Danlos syndrome Filippo, Camerota; Claudia, Celletti; Castori, Marco; Grammatico, Paola; Luca, Padua - 01a Articolo in rivista
rivista: JOURNAL OF PAIN AND SYMPTOM MANAGEMENT (Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680) pp. e2-e4 - issn: 0885-3924 - wos: WOS:000286053400002 (41) - scopus: 2-s2.0-78651343666 (51)
11573/539114 - 2011 -
R-spondin (RSPO1) and its antagonist Dickkopf-1 (DKK1) are expressed during prenatal development of male and female gonad. G., Ricci; F., Ferranti; M., Caruso; Canipari, Rita; S. Majore S., Valentini; M., Stefanini; Grammatico, Paola; Catizone, Angiolina - 04d Abstract in atti di convegno
congresso: 1th Workshop on Disorders of Sex Development (Bologna)
11573/387679 - 2011 -
Spatio-temporal distribution of R-Spondin1 (RSPO1) and its antagonist dickkopf-1 (DKK1) during prenatal development of the ovary. G., Ricci; Ferranti, Francesca; Caruso, Maria; Canipari, Rita; S., Majore; S., Valentini; Stefanini, Mario; Grammatico, Paola; Catizone, Angiolina - 04d Abstract in atti di convegno
congresso: ABCD congress 2011 (Ravenna, Italy)
libro: Abstract book ABCD Congress 2011 - ()
11573/388295 - 2011 -
Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis Giancotti, Antonella; Castori, Marco; Spagnuolo, Antonella; Binni, Francesco; D'ambrosio, Valentina; Pasquali, Gaia; Pizzuti, Antonio; Grammatico, Paola - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 1756-1758 - issn: 1552-4825 - wos: WOS:000291944700042 (3) - scopus: 2-s2.0-79959520698 (5)
11573/377418 - 2011 -
Molecular characterization of 11 Italian patients with Darier Disease L., Pedace; Barboni, Luana; E., Pozzetto; A., Amantea; G., Zambruno; N., Preziosi; F., Benedicenti; S., Boni; D., De Brasi; C., Panetta; C., Ferraro; C., De Bernardo; Castori, Marco; Grammatico, Paola - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF DERMATOLOGY (Montrouge: John Libbey eurotext) pp. 334-338 - issn: 1167-1122 - wos: WOS:000293836300003 (11) - scopus: 2-s2.0-79960805177 (12)
11573/377271 - 2011 -
AXIN2 germline mutations are rare in familial melanoma Lucia, Pedace; Daniele, Castiglia; Paola De, Simone; Castori, Marco; Naomi De, Luca; Ada, Amantea; Francesco, Binni; Silvia, Majore; Angela Maria, Cozzolino; Carmelilia De, Bernardo; Giovanna, Zambruno; Caterina, Catricala; Grammatico, Paola - 01a Articolo in rivista
rivista: GENES, CHROMOSOMES & CANCER (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 370-373 - issn: 1045-2257 - wos: WOS:000288173000008 (6) - scopus: 2-s2.0-79952377093 (7)
11573/423547 - 2011 -
Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma Lucia, Pedace; Paola De, Simone; Castori, Marco; Isabella, Sperduti; Vitaliano, Silipo; Laura, Eibenschutz; Carmelilia De, Bernardo; Pierluigi, Buccini; Elvira, Moscarella; Chiara, Panetta; Angela, Ferrari; Grammatico, Paola; Caterina, Catricala - 01a Articolo in rivista
rivista: CANCER EPIDEMIOLOGY (Amsterdam-Oxford: Elsevier) pp. E116-E120 - issn: 1877-7821 - wos: WOS:000298169300012 (22) - scopus: 2-s2.0-81055156168 (23)
11573/119078 - 2011 -
Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signaling Tomaselli, Sara; Megiorni, Francesca; Lin, Lin; Mazzilli, Maria Cristina; Dianne, Gerrelli; Silvia, Majore; Grammatico, Paola; Plosone E., Achermann Jc - 01a Articolo in rivista
rivista: PLOS ONE (San Francisco, CA : Public Library of Science) pp. Art. n. e16366-1-Art. n. e16366-9 - issn: 1932-6203 - wos: WOS:000286664100024 (64) - scopus: 2-s2.0-79551547364 (68)
11573/118893 - 2010 -
Ehlers-Danlos syndrome hypermobility type and the excess of affected females: Possible mechanisms and perspectives Castori, Marco; Filippo, Camerota; Claudia, Celletti; Grammatico, Paola; Luca, Padua - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 2406-2408 - issn: 1552-4825 - wos: WOS:000281498800042 (72) - scopus: 2-s2.0-77956112128 (79)
11573/362448 - 2010 -
Complex multipathways alterations and oxidative stress are associated with Hailey-Hailey disease Cialfi, Samantha; Oliviero, Christian; Ceccarelli, Simona; Marchese, Cinzia; L., Barbieri; G., Biolcati; Uccelletti, Daniela; Palleschi, Claudio; Barboni, Luana; C., De Bernardo; Grammatico, Paola; A., Magrelli; M., Salvatore; D., Taruscio; Frati, Luigi; Gulino, Alberto; Screpanti, Isabella; Talora, Claudio - 01a Articolo in rivista
rivista: BRITISH JOURNAL OF DERMATOLOGY (Oxford: Oxford University Press
Oxford: Blackwell Scientific Publications, 1960-) pp. 518-526 - issn: 0007-0963 - wos: WOS:000274550600010 (33) - scopus: 2-s2.0-76949101328 (36)
11573/118889 - 2010 -
Novel and recurrent p14(ARF) mutations in Italian familial melanoma F., Binni; I., Antigoni; P., De Simone; S., Majore; V., Silipo; A., Crisi; A., Amantea; D., Pacchiarini; M., Castori; C., De Bernardo; C., Catricala; Grammatico, Paola - 01a Articolo in rivista
rivista: CLINICAL GENETICS (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. 581-586 - issn: 0009-9163 - wos: WOS:000277523400010 (13) - scopus: 2-s2.0-77953932379 (17)
11573/117997 - 2010 -
Maternal exposures to endocrine disrupting chemicals and hypospadias in offspring Felice, Giordano; Annalisa, Abballe; Elena De, Felip; Alessandro Di, Domenico; Fabio, Ferro; Grammatico, Paola; Anna Maria, Ingelido; Valentina, Marra; Giacinto, Marrocco; Santiago, Vallasciani; Irene Figa, Talamanca - 01a Articolo in rivista
rivista: BIRTH DEFECTS RESEARCH. PART A, CLINICAL AND MOLECULAR TERATOLOGY (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 241-250 - issn: 1542-0752 - wos: WOS:000277335600006 (65) - scopus: 2-s2.0-77950814705 (70)
congresso: 15th International Symposium on Environmental Pollution and its Impact on Life in the Mediterranean Region (Bari, ITALY)
11573/117583 - 2010 -
Quality of Life in the Classic and Hypermobility Types of Elhers-Danlos Syndrome Filippo, Camerota; Claudia, Celletti; Grammatico, Paola; Luca, Padua; Castori, Marco - 01a Articolo in rivista
rivista: ANNALS OF NEUROLOGY (-attuale: WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030
-Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 145-146 - issn: 0364-5134 - wos: WOS:000275181900022 (33) - scopus: 2-s2.0-77649328939 (34)
11573/227776 - 2010 -
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies Iannicelli, M.; Brancati, F.; Mougou Zerelli, S.; Mazzotta, A.; Thomas, S.; Elkhartoufi, N.; Travaglini, L.; Gomes, C.; Ardissino, G. L.; Bertini, E.; Boltshauser, E.; Castorina, P.; D'arrigo, S.; Fischetto, R.; Leroy, B.; Loget, P.; Bonniere, M.; Starck, L.; Tantau, J.; Gentilin, B.; Majore, S.; Swistun, D.; Flori, E.; Lalatta, F.; Pantaleoni, C.; Penzien, J.; Grammatico, Paola; Ali Pacha, L.; Tazir, M.; Zankl, A.; Leventer, R.; Grattan Smith, P.; Janecke, A.; D'hooghe, M.; Sznajer, Y.; Van Coster, R.; Demerleir, L.; Dias, K.; Moco, C.; Moreira, A.; Ae Kim, C.; Maegawa, G.; Loncarevic, D.; Mejaski Bosnjak, V.; Petkovic, D.; Abdel Salam, G. M.; Abdel Aleem, A.; Zaki, M. S.; Marti, I.; Quijano Roy, S.; Sigaudy, S.; De Lonlay, P.; Romano, S.; Verloes, A.; Touraine, R.; Koenig, M.; Lagier Tourenne, C.; Messer, J.; Collignon, P.; Wolf, N.; Philippi, H.; Lemke, J.; Dacou Voutetakis, C.; Kitsiou Tzeli, S.; Pons, R.; Sztriha, L.; Halldorsson, S.; Johannsdottir, J.; Ludvigsson, P.; Phadke, S. R.; Udani, V.; Stuart, B.; Magee, A.; Lev, D.; Michelson, M.; Ben Zeev, B.; Di Giacomo, M.; Gentile, M.; Guanti, G.; D'addato, O.; Papadia, F.; Spano, M.; Bernardi, F.; Seri, M.; Benedicenti, F.; Stanzial, F.; Borgatti, R.; Accorsi, P.; Battaglia, S.; Fazzi, E.; Giordano, L.; Izzi, C.; Pinelli, L.; Boccone, L.; Guanciali, P.; Romoli, R.; Bigoni, S.; Ferlini, A.; Andreucci, E.; Donati, M. A.; Genuardi, M.; Caridi, G.; Divizia, M. T.; Faravelli, F.; Ghiggeri, G.; Amorini, M.; Briguglio, M.; Briuglia, S.; Rigoli, L.; Salpietro, C.; Tortorella, G.; Adami, A.; Marra, G.; Riva, D.; Scelsa, B.; Spaccini, L.; Uziel, G.; Coppola, G.; Del Giudice, E.; Vitiello, G.; Laverda, A. M.; Ludwig, K.; Permunian, A.; Suppiej, A.; Macaluso, C.; Signorini, S.; Uggetti, C.; Battini, R.; Di Giacomo, M.; Priolo, M.; Cilio, M. R.; D'amico, A.; Di Sabato, M. L.; Emma, F.; Leuzzi, Vincenzo; Parisi, Pasquale; Stringini, G.; Zanni, G.; Pollazzon, M.; Renieri, A.; Vascotto, M.; Silengo, M.; De Vescovi, R.; Greco, D.; Romano, C.; Cazzagon, M.; Simonati, A.; Al Tawari, A. A.; Bastaki, L.; Megarbane, A.; Matuleviciene, A.; Sabolic Avramovska, V.; Said, E.; De Jong, M. M.; Prescott, T.; Stromme, P.; Von Der Lippe, C.; Koul, R.; Rajab, A.; Azam, M.; Barbot, C.; Jocic Jakubi, B.; Gener Querol, B.; Martorell Sampol, L.; Rodriguez, B.; Pascual Castroviejo, I.; Strozzi, S.; Fluss, J.; Teber, S.; Topcu, M.; Anlar, B.; Comu, S.; Karaca, E.; Kayserili, H.; Yuksel, A.; Akgul, M.; Akcakus, M.; Al Gazali, L.; Nicholl, D.; Woods, C. G.; Bennett, C.; Hurst, J.; Sheridan, E.; Barnicoat, A.; Carr, L.; Hennekam, R.; Lees, M.; Mckay, F.; Yates, L.; Blair, E.; Bernes, S.; Sanchez, H.; Clark, A. E.; Marco E., De; Donahue, C.; Sherr, E.; Hahn, J.; Sanger, T. D.; Gallager, T. E.; Dobyns, W. B.; Daugherty, C.; Krishnamoorthy, K. S.; Sarco, D.; Walsh, C. A.; Mc Kanna, T.; Milisa, J.; Cjung, W. K.; De Vivo, D. C.; Raynes, H.; Schubert, R.; Seward, A.; Brooks, D. G.; Goldstein, A.; Caldwell, J.; Finsecke, E.; Maria, B. L.; Holden, K.; Cruse, R. P.; Swoboda, K. J.; Viskochil, D.; Dallapiccola, B.; Gleeson, J. G.; Attie Bitach, T.; Valente, E. M. - 01a Articolo in rivista
rivista: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. E1319-E1331 - issn: 1059-7794 - wos: WOS:000279982000001 (72) - scopus: 2-s2.0-77951821478 (78)
11573/423762 - 2010 -
Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance Marco, Castori; Cascone, Piero; Michele, Valiante; Laino, Luigi; Iannetti, Giorgio; Raoul C. M., Hennekam; Grammatico, Paola - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 2810-2815 - issn: 1552-4825 - wos: WOS:000284005700022 (10) - scopus: 2-s2.0-78049308109 (12)
11573/119076 - 2010 -
Sirenomelia and VACTERL Association in the Offspring of a Woman With Diabetes Marco, Castori; Evelina, Silvestri; Sandra, Cappellacci; Francesco, Binni; Giovanna Scassellati, Sforzolini; Grammatico, Paola - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 1803-1807 - issn: 1552-4825 - wos: WOS:000280115000059 (25) - scopus: 2-s2.0-77954128007 (24)
11573/404303 - 2010 -
Natural history and manifestations of the hypermobility type Ehlers-Danlos syndrome: a pilot study on 21 patients. Marco, Castori; Filippo, Camerota; Claudia, Celletti; Danese, Chiara Rita; Santilli, Valter; Saraceni, Vincenzo Maria; Grammatico, Paola - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 556-564 - issn: 1552-4825 - wos: WOS:000276155200005 (146) - scopus: 2-s2.0-77649228702 (153)
11573/424066 - 2010 -
Systematized organoid epidermal nevus with eccrine differentiation, multiple facial and oral congenital scars, gingival synechiae, and blepharophimosis: A novel epidermal nevus syndrome Marco, Castori; Giorgio, Annessi; Daniele, Castiglia; Vitaliano, Buffa; Andrea, Paradisi; Cascone, Piero; Giovanna, Zambruno; Grammatico, Paola; Mauro, Paradisi - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 25-31 - issn: 1552-4825 - wos: WOS:000273680500002 (1) - scopus: 2-s2.0-75149136077 (5)
11573/118890 - 2010 -
Jejunal atresia and anterior chamber anomalies: Further delineation of the Strømme syndrome Marco, Castori; Laino, Luigi; Vito, Briganti; Lucia, Pedace; Andrea, Zampini; Mario, Marconi; Barbara, Grammatico; Elsa, Buffone; Grammatico, Paola - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF MEDICAL GENETICS (AMSTERDAM, NETHERLANDS,: ELSEVIER SCIENCE BV) pp. 149-152 - issn: 1769-7212 - wos: WOS:000281579400008 (4) - scopus: 2-s2.0-77951975774 (4)
11573/118895 - 2010 -
Palmoplantar Keratoderma, Pseudo-Ainhum, and Universal Atrichia: A New Patient and Review of the Palmoplantar Keratoderma-Congenital Alopecia Syndrome Marco, Castori; Michele, Valiante; Marco, Ritelli; Nicoletta, Preziosi; Marina, Colombi; Mauro, Paradisi; Grammatico, Paola - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 2043-2047 - issn: 1552-4825 - wos: WOS:000280925800024 (9) - scopus: 2-s2.0-77955290401 (13)
11573/118894 - 2010 -
Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols. Rossella, Giuliani; Ivana, Antonucci; Isabella, Torrente; Grammatico, Paola; Giandomenico, Palka; Liborio, Stuppia - 01a Articolo in rivista
rivista: ASIAN JOURNAL OF ANDROLOGY (-SCIENCE CHINA PRESS, 16 DONGHUANGCHENGGEN NORTH ST, BEIJING, PEOPLES R CHINA, 100717
-Asian Society of Andrology:294 Taiyuan Road, Shanghai 200031 China:011 86 21 64742629) pp. 819-826 - issn: 1008-682X - wos: WOS:000283662600010 (21) - scopus: 2-s2.0-78049519679 (24)
11573/117585 - 2009 -
Association of Hepcidin promoter c.-528A>G variant in iron overload inthalassemia major. Andreani, M; Radio, Fc; Testi, M; De Bernardo, C; Troiano, M; Majore, S; Bertucci, P; Polchi, P; Lucarelli, G; Grammatico, Paola - 01a Articolo in rivista
rivista: HAEMATOLOGICA (Fondaz Ferrata Storti:Strada Nuova 134, 27100 Pavia Italy:011 39 0382 531182, EMAIL: office@haematologica.it, Fax: 011 39 0382 27721) pp. 1293-1296 - issn: 0390-6078 - wos: WOS:000269833000017 (26) - scopus: 2-s2.0-70349104225 (26)
11573/117587 - 2009 -
Darier disease, multiple bone cysts and anidridi due to double de novo heterozygous mutations in ATP2A2 and PAX6. Castori, M; Barboni, L; Duncan, Pj; Paradisi, M; Laino, Luigi; De Bernardo, C; Robinson, Do; Grammatico, Paola - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 1768-1772 - issn: 1552-4825 - wos: WOS:000268796000041 (5) - scopus: 2-s2.0-68049088731 (7)
Castori, M; Grammatico, Paola - 02a Capitolo o Articolo
libro: Crohn Disease: A multidisciplinary approach - (9788847014718)
11573/117992 - 2009 -
Paradoxical association of extensive nevus flammeus together with unilaterale lower limb and brest hypoplasia. Castori, M; Majore, S; Binni, F; Grammatico, Paola - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 266-267 - issn: 1552-4825 - wos: WOS:000263433400023 (2) - scopus: 2-s2.0-59849110144 (2)
11573/117996 - 2009 -
Fontaine-Farriaux syndrome: a recognizable craniosynostosis syndrome with nail, skeletal, abdominal and central nervous system anomalies. Castori, M; Silvestri, E; Pedace, L; Marseglia, G; Tempera, A; Antigoni, I; Torricelli, F; Majore, S; Grammatico, Paola - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 2193-2199 - issn: 1552-4825 - wos: WOS:000270745000020 (10) - scopus: 2-s2.0-70349514873 (0)
11573/229518 - 2009 -
Nonpermissive HLA-DPB1 disparity is a significant independent risk factor for mortality after unrelated hematopoietic stem cell transplantation Crocchiolo, R.; Zino, E.; Vago, L.; Oneto, R.; Bruno, B.; Pollichieni, S.; Sacchi, N.; Sormani, M. P.; Marcon, J.; Lamparelli, T.; Fanin, R.; Garbarino, L.; Miotti, V.; Bandini, G.; Bosi, A.; Ciceri, F.; Bacigalupo, A.; Fleischhauer, K.; Midollo Osseo Gruppo Italiano Trapianto, D. I.; Terapia Cellulare, Cellule Staminali Ematopoietiche Cse E.; Italian Bone Marrow Donor Registry Collaboratori, Scalari P.; Bontempelli, M.; Prinoth, O.; Carcassi, C.; Marceno, R.; Porfirio, ; Rombola, G.; Garbarino, L.; Lombardo, ; Ferrioli, G.; Poli, F.; Scalamogna, M.; Fleischhauer, K.; Mazzi, B.; Rossi, F.; Mascaretti, L.; Albergoni, ; Salvaneschi, L.; Salvaneschi, M.; Valentini, ; Nesci, S.; Papola, F.; Scatena, Mariotti; Perrone, Laurenti; Grammatico, Paola; Mariani, M.; Favoino, B.; Miotti, V.; Guizzardi, Pontiero; Leoni, P.; Rambaldi, A.; Casini, M.; Angelucci, E.; Baronciani, D.; La Nasa, G.; Milone, G.; Guidi, S.; Bosi, A.; Bacigalupo, A.; Van Lint, M. T.; Dini, G.; Corradini, P.; Milani, R.; Morra, E.; Marenco, P.; Deliliers, Lambretenghi G.; Onida, F.; Ciceri, F.; Marcatti, M.; Castagna, L.; Pioltelli, P.; Selleri, C.; Zanesco, L.; Scime, R.; Musso, M.; Alessandrino, E. P.; Locatelli, F.; Visani, G.; Di Bartolomeo, P.; Papineschi, F.; Favre, C.; Iori, A. P.; Foa, Roberto; Locasciulli, A.; Majolino, I.; Majolino, P.; Leone, G.; Arcese, W.; Cerretti, R.; Carella, A. M.; Cascavilla, N.; Lauria, F.; Mazza, P.; Fanin, R.; Cerno, M.; Benedetti, F. - 01a Articolo in rivista
rivista: BLOOD (New York: Elsevier Inc.
[Washington DC etc.]: American Society of Hematology) pp. 1437-1444 - issn: 0006-4971 - wos: WOS:000268924700024 (124) - scopus: 2-s2.0-70349342800 (135)
11573/399002 - 2009 -
Development of phenotypic indexes for the description of morphological injury in breast cancer cell mitochondria. L., Putignani; Raffa, Salvatore; R., Pescosolido; F., Signore; D., Menichella; R., Boldrini; Torrisi, Maria Rosaria; Grammatico, Paola - 04c Atto di convegno in rivista
rivista: JOURNAL OF CLINICAL ONCOLOGY (editori attuale:
-American Society of Clinical Oncology. , 330 JOHN CARLYLE ST, STE 300, ALEXANDRIA, USA, VA, 22314
precedente:
-W B Saunders Company:Fulfillment Department, The Curtis Center, Independence Square West:Philadelphia, PA 19106:(800)654-2452, (215)238-7800, EMAIL: wbspcs@harcourt.com, INTERNET: http://elsevierhealth.com, Fax: (215)238-6445) pp. e22055-e22055 - issn: 0732-183X - wos: (0) - scopus: (0)
congresso: 2009 American Society of Clinical Oncology Annual Meeting (Orlando, Florida)
11573/117586 - 2009 -
A novel missense mutation SLC40A1 results in resistance to hepcidin and confirms phenotypic heterogeneity of the ferroportin disease. Lètocart, E; Le Gac, G; Majore, S; Ka, C; Radio, Fc; Gourlaouen, I; De Bernardo, C; Féerec, C; Grammatico, Paola - 01a Articolo in rivista
rivista: BRITISH JOURNAL OF HAEMATOLOGY (Oxford: Blackwell, 1955-) pp. 379-385 - issn: 0007-1048 - wos: WOS:000270727900012 (32) - scopus: 2-s2.0-70349904431 (32)
11573/117993 - 2009 -
Juvenile Macular Dystrophy and Forearm Pronation-Supination Restriction Presenting With Features of Distal Arthrogryposis Type 5 Marco, Castori; Rosanna, Rinaldi; Luana, Barboni; Paolo, Tanzilli; Michael, Bamshad; Grammatico, Paola - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 482-486 - issn: 1552-4825 - wos: WOS:000264142300032 (3) - scopus: 2-s2.0-61749098901 (6)
11573/117580 - 2009 -
A nove heterozygous SOX2 mutation causing anophtalmia/microphtalmia with genital anomalies Pedace, L; Castori, M; Binni, F; Pingi, A; Grammatico, B; Scommegna, S; Majore, S; Grammatico, Paola - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF MEDICAL GENETICS (AMSTERDAM, NETHERLANDS,: ELSEVIER SCIENCE BV) pp. 273-276 - issn: 1769-7212 - wos: WOS:000269070800025 (4) - scopus: 2-s2.0-67650635208 (5)
11573/117579 - 2009 -
BMP15 Mutations Associated With Primary Ovarian Insufficiency Cause a Defective Production of Bioactive Protein Raffaella, Rossetti; Elisa Di, Pasquale; Anna, Marozzi; Silvia, Bione; Grammatico, Paola; Daniela, Toniolo; Lawrence M., Nelson; Paolo Beck, Peccoz; Luca, Persani - 01a Articolo in rivista
rivista: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 804-810 - issn: 1059-7794 - wos: WOS:000265803900012 (94) - scopus: 2-s2.0-66749092996 (107)
11573/117588 - 2009 -
Natural history of TRF2-related hereditary hemochromatosis in a 47-yr-old Italian patient. Ricerca, Bm; Radio, Fc; De Marinis, L; De Bernardo, C; Castori, M; Sacco, E; Grammatico, Paola; Majore, S. - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF HAEMATOLOGY (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. 494-496 - issn: 0902-4441 - wos: WOS:000270650700013 (4) - scopus: 2-s2.0-70349968176 (5)
11573/118320 - 2008 -
Molecular characterization of six unrelated Italian patients with 5&[alpha]-reductase type 2 deficiency. Baldinotti, F; Majore, S; Fogli, A; Marrocco, G; Ghiri, P; Vuerich, M; Tumini, S; Boscherini, B; Vetri, Mg; Scommegna, S; Rinaldi, R; Simi, P; Grammatico, Paola; Epub Ahead Of, Print - 01a Articolo in rivista
rivista: JOURNAL OF ANDROLOGY (Allen Press Incorporated:PO Box 1897:Lawrence, KS 66044:(800)627-0629, (785)843-1221, EMAIL: orders@allenpress.com, INTERNET: http://www.allenpress.com, Fax: (785)843-1274) pp. 20-28 - issn: 0196-3635 - wos: WOS:000252044700005 (39) - scopus: 2-s2.0-38049098261 (40)
11573/117995 - 2008 -
A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser sindrome Castori, M; Covaciu, C; Rinaldi, R; Grammatico, Paola; Paradisi, M. - 01a Articolo in rivista
rivista: JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (Mosby Year Book Incorporated:6277 Sea Harbor Drive:Orlando, FL 32887:(800)654-2452, (407)345-4000, EMAIL: hhspcs@harcourt.com, INTERNET: http://www.mosby.com, Fax: (407)363-9661, (314)432-1380) pp. S92-S98 - issn: 0190-9622 - wos: WOS:000260384300008 (4) - scopus: 2-s2.0-53349108384 (5)
11573/118323 - 2008 -
Phocomatosis cesioflammea with unilateral lipohypoplasia. Castori, M; Rinaldi, R; Angelo, C; Zambruno, G; Grammatico, Paola; Happle, R. - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 492-495 - issn: 1552-4825 - wos: WOS:000252846000015 (11) - scopus: 2-s2.0-38849202548 (12)
11573/117386 - 2008 -
Tibial Developmental Field Defect is the most Common Lower Limb MalformationPattern in VACTERL Association. Castori, M; Rinaldi, R; Cappellacci, S; Grammatico, Paola - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 1259-1266 - issn: 1552-4825 - wos: WOS:000255491200004 (16) - scopus: 2-s2.0-43049121724 (19)
11573/117578 - 2008 -
A single nucleotide variant in the FMR1 CGG repeat results in a “pseudodeletion” and is not associated with the fragile X sindrome phenotype. Cecconi, M; Forzano, F; Rinaldi, R; Cappellacci, S; Grammatico, Paola; Faravelli, F; Dagna Bricarelli, F; Di Maria, E; Grasso, M. - 01a Articolo in rivista
rivista: THE JOURNAL OF MOLECULAR DIAGNOSTICS (Bethesda, MD : American Society for Investigative Pathology and the Association for Molecular Pathology, 1999-) pp. 272-275 - issn: 1525-1578 - wos: WOS:000255442500012 (5) - scopus: 2-s2.0-43749111823 (5)
11573/339594 - 2008 -
Esposizione prenatale a interferenti endocrini e rischio di ipospadia nella prole. Studio caso-controllo in due ospedali pediatrici di Roma Giordano, Felice; A., Abballe; Carbone, Pietro; E., De Felip; A., Di Domenico; F., Ferro; Grammatico, Paola; A., Ingelido; A., Mantovani; V., Marra; G., Marrocco; S., Valentini; Petritsi, Irene - 01a Articolo in rivista
rivista: NOTIZIARIO DELL'ISTITUTO SUPERIORE DI SANITÀ (Roma : Istituto Superiore di Sanità) pp. iii-iv - issn: 0394-9303 - wos: (0) - scopus: (0)
11573/398901 - 2008 -
Oxidative metabolism dysfunction and morphological damage
in breast cancer cell mitochondria. L., Putignani; Raffa, Salvatore; R., Pescosolido; F., Signore; D., Menichella; R., Boldrini; Torrisi, Maria Rosaria; Grammatico, Paola - 04c Atto di convegno in rivista
rivista: JOURNAL OF CLINICAL ONCOLOGY (editori attuale:
-American Society of Clinical Oncology. , 330 JOHN CARLYLE ST, STE 300, ALEXANDRIA, USA, VA, 22314
precedente:
-W B Saunders Company:Fulfillment Department, The Curtis Center, Independence Square West:Philadelphia, PA 19106:(800)654-2452, (215)238-7800, EMAIL: wbspcs@harcourt.com, INTERNET: http://elsevierhealth.com, Fax: (215)238-6445) pp. abstr 22200-abstr 22200 - issn: 0732-183X - wos: WOS:000208457404097 (2) - scopus: (0)
congresso: 2008 American Society of Clinical Oncology Annual Meeting (Chicago, Illinois)
11573/363440 - 2008 -
Identification of a novel duplication in the APC gene using multiple ligation probe amplification in a patient with familial adenomatous polyposis Lucia, Pedace; Silvia, Majore; Megiorni, Francesca; Francesco, Binni; Carmelilia De, Bernardo; Ivana, Antigoni; Nicoletta, Preziosi; Mazzilli, Maria Cristina; Grammatico, Paola - 01a Articolo in rivista
rivista: CANCER GENETICS AND CYTOGENETICS (New York, NY: Elsevier Science Incorporated / NY Journals) pp. 130-135 - issn: 0165-4608 - wos: WOS:000255344700010 (3) - scopus: 2-s2.0-41749122182 (4)
11573/229430 - 2008 -
Association of segmental neurofibromatosis 1 and oculo-auriculo-vertebral spectrum in a 24-year-old female M., Castori; S., Majore; Romanelli, Francesco; B., Didona; Grammatico, Paola; G., Zambruno - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF DERMATOLOGY (Montrouge: John Libbey eurotext) pp. 22-25 - issn: 1167-1122 - wos: WOS:000253203900005 (9) - scopus: 2-s2.0-38549162211 (6)
11573/117801 - 2008 -
CDKN2a and CDK4 molecular study on 155 Italian subjects with familial and/or primary multiple melanoma. Majore, S; De Simone, P; Crisi, A; Eibenschutz, L; Binni, F; Antigoni, I; De Bernardo, C; Catrical, C; Grammatico, Paola - 01a Articolo in rivista
rivista: PIGMENT CELL RESEARCH (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. 209-211 - issn: 0893-5785 - wos: WOS:000255061700016 (18) - scopus: 2-s2.0-42249098884 (18)
11573/227452 - 2008 -
VACTERL association and maternal diabetes: A possible causal relationship? Marco, Castori; Rosanna, Rinaldi; Capocaccia, Paolo; Roggini, Mario; Grammatico, Paola - 01a Articolo in rivista
rivista: BIRTH DEFECTS RESEARCH. PART A, CLINICAL AND MOLECULAR TERATOLOGY (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 169-172 - issn: 1542-0752 - wos: WOS:000254601400007 (32) - scopus: 2-s2.0-41449108846 (39)
11573/231363 - 2008 -
Alterations of expression levels of the oxidative phosphorylation system (OXPHOS) in breast cancer cell mitochondria Putignani, L; Raffa, Salvatore; Pescosolido, R; Aimati, L; Signore, F; Torrisi, Maria Rosaria; Grammatico, Paola - 01a Articolo in rivista
rivista: BREAST CANCER RESEARCH AND TREATMENT (Dordrecht; Boston: Kluwer Academic Publishers
The Hague; London; Boston: Nijhoff) pp. 439-452 - issn: 0167-6806 - wos: WOS:000257486600005 (56) - scopus: 2-s2.0-46949091693 (61)
11573/117991 - 2008 -
Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation Tomaselli, Sara; Megiorni, Francesca; Carmelilia De, Bernardo; Aldo, Felici; Giacinto, Marrocco; Giorgio, Maggiulli; Barbara, Grammatico; Daniele, Remotti; Pietro, Saccucci; Ferdinando, Valentini; Mazzilli, Maria Cristina; Silvia, Majore; Grammatico, Paola - 01a Articolo in rivista
rivista: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 220-226 - issn: 1059-7794 - wos: WOS:000253033000003 (100) - scopus: 2-s2.0-38949110809 (145)
11573/118316 - 2007 -
A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia A., Borriello; A., Locasciulli; A. M., Bianco; M., Criscuolo; V., Conti; Grammatico, Paola; S., Cappellacci; A., Zatterale; F., Morgese; V., Cucciolla; D., Delia; F., Della Ragione; A., Savoia - 01a Articolo in rivista
rivista: LEUKEMIA (-, LONDON, ENGLAND: NATURE PUBLISHING GROUP,
-London,United Kingdom: Macmillan Magazines Limited
-[Baltimore, Md.] : Williams & Wilkins, [c1987]-) pp. 72-78 - issn: 0887-6924 - wos: WOS:000242934500012 (21) - scopus: 2-s2.0-33845546512 (23)
11573/118317 - 2007 -
Five cases of supernumerary small ring chromosomes 1: heterogeneity and genotype-phenotype correlation. Bernardini, A; Capalbo, A; Davanzo, Mg; Torrente, I; Grammatico, Paola; Delledera, D; Cavalcanti, Dp; Novelli, A; Dalla Piccola, B. - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF HUMAN GENETICS (-NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON, ENGLAND, N1 9XW
-S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 94-102 - issn: 1018-4813 - wos: WOS:000245753100002 (7) - scopus: 2-s2.0-33947181357 (7)
11573/118319 - 2007 -
Pai syndromee: first patient with agenesis of the corpus callosum and literature review. Castori, M; Rinaldi, R; Bianchi, A; Caponetti, A; Assumma, M; Grammatico, Paola - 01a Articolo in rivista
rivista: BIRTH DEFECTS RESEARCH. PART A, CLINICAL AND MOLECULAR TERATOLOGY (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 673-679 - issn: 1542-0752 - wos: WOS:000250222400001 (16) - scopus: 2-s2.0-35348813074 (21)
11573/118318 - 2007 -
A triploid fetus further expands etiological heterogenity in holoprosencephaly-diencephalic hamartoblastoma (HDH). Castori, M; Silvestri, E; Grammatico, Paola; Dallapiccola, B. - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 1391-1393 - issn: 1552-4825 - wos: WOS:000246955500041 (2) - scopus: 2-s2.0-34249904659 (2)
11573/118321 - 2007 -
A deletion 3' to the PAX6 gene in familial aniridia cases. Delia, Av; Pellizzari, L; Fabbro, D; Pianta, A; Dovizia, Mt; Rinaldi, R; Grammatico, B; Grammatico, Paola; Arduino, C; Damante, G. - 01a Articolo in rivista
rivista: MOLECULAR VISION (MOLECULAR VISION, C/O JEFF BOATRIGHT, LAB B, 5500 EMORY EYE CENTER, 1327 CLIFTON RD, N E, ATLANTA, USA, GA, 30322) pp. 1245-1250 - issn: 1090-0535 - wos: WOS:000248646700001 (25) - scopus: 2-s2.0-34547226005 (27)
11573/117994 - 2007 -
Do patients with hypospadias and cryptorchidism share a common phenotype? Case-control study of an Italian paediatric population Marrocco, G; Bruner, E; Vallasciani, S; Majore, S; Grammatico, Paola - 01a Articolo in rivista
rivista: JOURNAL OF PEDIATRIC UROLOGY (ELSEVIER
The Journal of Pediatric Urology Editorial Office, Elsevier Ltd,
The Boulevard, Langford Lane,
Kidlington, Oxon OX5 1GB, UK) pp. 477-479 - issn: 1477-5131 - wos: (0) - scopus: 2-s2.0-35948958131 (0)
B., Dallapiccola; Grammatico, Paola - 02a Capitolo o Articolo
libro: Trattato Italiano di Medicina di Laboratorio - (9788829917877)
11573/117796 - 2006 -
CDNA-array profiling of melanomas and paired melanocyte cultures Carlo, Mischiati; Pier Giorgio, Natali; Alessia, Sereni; Leonardo, Sibilio; Ezio, Giorda; Sandra, Cappellacci; S., Nicotra; Giustino, Mariani; Franco Di, Filippo; C., Catrical; Roberto, Gambari; Grammatico, Paola; Patrizio, Giacomini - 01a Articolo in rivista
rivista: JOURNAL OF CELLULAR PHYSIOLOGY (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 697-705 - issn: 0021-9541 - wos: WOS:000237370200015 (19) - scopus: 2-s2.0-33646343454 (18)
11573/365062 - 2006 -
Antenatal presentation of the Oculo-Auricolo-Vertebral Spectrum (OAVS). Castori, M; F., Brancati; Rinaldi, R; Adami, L; Mingarelli, R; Grammatico, Paola; Dallapiccola, B. - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 1573-1579 - issn: 1552-4825 - wos: WOS:000238799900012 (30) - scopus: 2-s2.0-33745601147 (45)
11573/446072 - 2006 -
Germline Missense Mutations Affecting KRAS Isoform B Are
Associated with a Severe Noonan Syndrome Phenotype Claudio, Carta; Francesca, Pantaleoni; Gianfranco, Bocchinfuso; Lorenzo, Stella; Isabella, Vasta; Anna, Sarkozy; Cristina, Digilio; Antonio, Palleschi; Pizzuti, Antonio; Grammatico, Paola; Giuseppe, Zampino; Bruno, Dallapiccola; Bruce D., Gelb; *, ; Marco, Tartaglia* - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF HUMAN GENETICS (University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811) pp. 129-135 - issn: 0002-9297 - wos: WOS:000238341200013 (171) - scopus: 2-s2.0-33745265268 (196)
11573/118312 - 2006 -
6q terminal deletion syndrome is associated with a distinctive EEG and clinical pattern. A report of five cases. Elia, M; Striano, P; Fichera, M; Gaggero, R; Castiglia, L; Galesi, O; Pierluigi, M; Amato, C; Musumeci, Sa; Romano, C; Majore, S; Grammatico, Paola; Striano, S; Zara, F; Faravelli, F. - 01a Articolo in rivista
rivista: EPILEPSIA (Hoboken: John Wiley & Sons
Copenhagen: E. Munksgaard) pp. 830-838 - issn: 0013-9580 - wos: WOS:000237350800004 (42) - scopus: 2-s2.0-33745229227 (42)
11573/495626 - 2006 -
HGF/HGFR System during mammalian testis morphogenesis: Expression, funcional role and preliminary clinical observation G., Ricci; Catizone, Angiolina; M., Galdieri; J., Del Bravo; R., Esposito; M., Stefanini; G., Marrocco; S., Maiore; Grammatico, Paola - 04d Abstract in atti di convegno
congresso: International meeting on anomalies of sex differentiation (ROMA)
11573/117799 - 2006 -
Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification Oronzo, Scarciolla; Liborio, Stuppia; M. V., De Angelis; Stefania, Murru; Chiara, Palka; Rossella, Giuliani; Marta, Pace; A., Di Muzio; Isabella, Torrente; Annunziata, Morella; Grammatico, Paola; Manlio, Giacanelli; Maria Cristina, Rosatelli; Antonino, Uncini; Bruno, Dallapiccola - 01a Articolo in rivista
rivista: NEUROGENETICS (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 269-276 - issn: 1364-6745 - wos: WOS:000241380100008 (50) - scopus: 2-s2.0-33750069739 (56)
11573/118314 - 2006 -
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases Pasquale, Striano; Michela, Malacarne; Simona, Cavani; Mauro, Pierluigi; Rosanna, Rinaldi; Maria Luigia, Cavaliere; Maria Michela, Rinaldi; Carmelilia De, Bernardo; Antonietta, Coppola; Maria, Pintaudi; Roberto, Gaggero; Grammatico, Paola; Salvatore, Striano; Bruno, Dallapiccola; Federico, Zara; Francesca, Faravelli - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 1944-1949 - issn: 1552-4825 - wos: WOS:000240391800009 (41) - scopus: 2-s2.0-33748621492 (41)
11573/145885 - 2006 -
De novo pure 12q22q24.33 duplication: first report of a case with mental retardation, ADHD, and Dandy-Walker malformation S., Cappellacci; S., Martinelli; R., Rinaldi; E., Martinelli; Parisi, Pasquale; P., Mancini; B., Pescosolido; Grammatico, Paola - 01i Case report
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 1203-1207 - issn: 1552-4825 - wos: WOS:000237990300012 (16) - scopus: 2-s2.0-33744790041 (17)
11573/232932 - 2006 -
Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload. S., Majore; F., Milano; F., Binni; L., Stuppia; A., Cerrone; Tafuri, Agostino; C., De Bernardo; G., Palka; Grammatico, Paola - 01a Articolo in rivista
rivista: HAEMATOLOGICA (Pavia : Fondazione Ferrata Storti) pp. 91-93 - issn: 1592-8721 - wos: (0) - scopus: 2-s2.0-33749075204 (25)
11573/237856 - 2006 -
Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors Simone, Martinelli; Claudio, Carta; Elisabetta, Flex; Francesco, Binni; E., Lucci Cordisco; Sonia, Moretti; Efisio, Puxeddu; Massimo, Tonacchera; Aldo, Pinchera; Heather P., Mcdowell; Dominici, Carlo; Angelo, Rosolen; Concezio Di, Rocco; Riccardo, Riccardi; Celli, Paolo; Mauro, Picardo; Maurizio, Genuardi; Grammatico, Paola; Mariella, Sorcini; Marco, Tartaglia - 01a Articolo in rivista
rivista: CANCER GENETICS AND CYTOGENETICS (New York, NY: Elsevier Science Incorporated / NY Journals) pp. 124-129 - issn: 0165-4608 - wos: WOS:000237174400005 (40) - scopus: 2-s2.0-33646022879 (42)
11573/118072 - 2005 -
Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs Liborio, Stuppia; R., Rinaldi; S., Majorre; Francesco, Binni; Isabella, Torrente; E., Calzolari; Grammatico, Paola; Bruno, Dallapiccola - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF HUMAN GENETICS (-NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON, ENGLAND, N1 9XW
-S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 959-964 - issn: 1018-4813 - wos: WOS:000230760400011 (37) - scopus: 2-s2.0-23644445832 (42)
11573/117795 - 2005 -
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. M., Cecconi; F., Forzano; D., Milani; S., Cavani; C., Baldo; A., Selicorni; C., Pantaleoni; M., Silengo; Gb, Ferrero; G., Scarano; M., Della Monica; R., Fischetto; Grammatico, Paola; S., Majore; G., Zampino; L., Memo; E., Lucci Cordisco; G., Neri; M., Pierluigi; F., Dagna Bricarelli; M., Grasso; F., Faravelli - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 247-253 - issn: 1552-4825 - wos: WOS:000228083600005 (51) - scopus: 2-s2.0-20144387331 (63)
11573/118073 - 2005 -
ATP2C1 gene mutation analysis in Italian patients with Hailey-Hailey disease Majore, S; Biolcati, G; Barboni, L; Cannistraci, C; Binni, F; Crisi, A; Picardo, M; Grammatico, Paola - 01a Articolo in rivista
rivista: JOURNAL OF INVESTIGATIVE DERMATOLOGY (Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680) pp. 933-935 - issn: 0022-202X - wos: WOS:000233194300017 (16) - scopus: 2-s2.0-33644810566 (19)
11573/419644 - 2004 -
Gaucher’s disease and hyperferritinemia: a single Center experience. Amendola, Angela; Palumbo, Giovanna; Barberi, Walter; Grammatico, Paola; Foa, Roberto; Giona, Fiorina - 04a Atto di comunicazione a congresso
congresso: Sixth European Working Group on Gaucher disease (EWGGD) Workshop (Barcelona, Spain)
11573/118070 - 2004 -
Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis C., Lanzara; A., Roetto; F., Daraio; S., Rivard; R., Ficarella; H., Simard; T. M., Cox; M., Cazzola; A., Piperno; A. P., Gimenezroqueplo; Grammatico, Paola; S., Volinia; P., Gasparini; C., Camaschella - 01a Articolo in rivista
rivista: BLOOD (New York: Elsevier Inc.
[Washington DC etc.]: American Society of Hematology) pp. 4317-4321 - issn: 0006-4971 - wos: WOS:000221657600054 (135) - scopus: 2-s2.0-2542468736 (171)
11573/117748 - 2004 -
Fetal cells in maternal blood: a fold increase in women who have undergone amniocentesis and carry a fetus with down syndrome: a multicentre study Falcidia, E; Parano, E; Grillo, A; Pavone, P; Takabayashi, H; Trafiletti, Rr; Scollo, P; Dallapiccola, B; Grammatico, Paola; Novelli, A; Paladini, D; Monni, G; Gulisano, ; Scassellati, G. - 01a Articolo in rivista
rivista: NEUROPEDIATRICS (Hippokrates Verlag GmbH:Postfach 300504, D-70445 Stuttgart Germany:011 49 711 89310, Fax: 011 49 711 8931706) pp. 321-324 - issn: 0174-304X - wos: WOS:000226076300002 (9) - scopus: 2-s2.0-19944367566 (10)
11573/161206 - 2004 -
Uveal melanoma: a model for exploring fundamental cancer biology. M. A., Blasi; Grammatico, Paola - 02a Capitolo o Articolo
libro: Uveal melanoma: a model for exploring fundamental cancer biology. - ()
11573/114971 - 2004 -
HAMP GENE MUTATION C.208T>C (P.C70R) IDENTIFIED IN AN ITALIAN PATIENT WITH SEVERE HEREDITARY HEMOCHROMATOSIS. Majore, S; Binni, Francesco; Pennese, Antonio; De Santis, Adriano; Crisi, A; Grammatico, Paola - 01a Articolo in rivista
rivista: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 400-408 - issn: 1059-7794 - wos: WOS:000208804000011 (26) - scopus: 2-s2.0-2342656510 (34)
11573/236070 - 2004 -
Attention-deficit/hyperactivity disorder, speech delay and neuronal migration disorder associated with trisomy 18 mosaicism Rinaldi, R.; Parisi, Pasquale; Poscente, M.; Calvani, M.; Grammatico, Paola - 01a Articolo in rivista
rivista: GENETIC COUNSELING (Medecine et Hygiene:Case Postale 456, CH-1211 Geneva 4 Switzerland:011 41 22 7029311, EMAIL: abonnements@medhyg.ch, INTERNET: http://www.medhyg.ch, Fax: 011 41 22 7029355) pp. 379-382 - issn: 1015-8146 - wos: WOS:000224342700014 (2) - scopus: 2-s2.0-4844220498 (2)
11573/118071 - 2004 -
CDKN2A: the IVS2-105 A/G intronic mutation found in an Italian patient affected by eight multiple primary melanoma. Silvia, Majore; Caterina, Catrical; Francesco, Binni; Paola De, Simone; Laura, Eibenschutz; Grammatico, Paola - 01a Articolo in rivista
rivista: JOURNAL OF INVESTIGATIVE DERMATOLOGY (Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680) pp. 450-451 - issn: 0022-202X - wos: WOS:000188991100045 (7) - scopus: 2-s2.0-1442348076 (9)
11573/147336 - 2003 -
Consulenza di genetica e medicina preventiva Del Porto, G; Grammatico, Paola - 02a Capitolo o Articolo
libro: Enciclopedia Pratica di Medicina - ()
11573/117746 - 2003 -
The antigen processing machinery of class I human leukocyte antigens: Linked patterns of gene expression in neoplastic cells E., Giorda; L., Sibilio; R., Fraioli; S., Martayan Amoretti; L., Venturo; M., Mottolese; G. B., Ferrara; S., Cappellacci; L., Eibenschutz; C., Catricala'; Grammatico, Paola - 01a Articolo in rivista
rivista: CANCER RESEARCH (American Association of Cancer Research:150 South Independence Mall West, #826:Philadelphia, PA 19106:(215)440-9300, EMAIL: pubs@aacr.org, INTERNET: http://www.aacr.org, Fax: (215)440-7228) pp. 4119-4127 - issn: 0008-5472 - wos: WOS:000184379800046 (34) - scopus: 2-s2.0-0041672389 (36)
11573/120886 - 2003 -
The effects of 99mTc-HMPAO-labelled leucocyte scan on human karyotype Liberatore, Mauro; M., Poscente; D., Prosperi; B., Mancini; A. P., Iurilli; M., Donnetti; Grammatico, Paola - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING (Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229) pp. 1365-1370 - issn: 1619-7070 - wos: WOS:000185896900008 (5) - scopus: 2-s2.0-0141996522 (6)
11573/118069 - 2003 -
Clinical management and molecular cytogenetic characterization in a 45,X/46,X,dic(Y)(q11) patient with severe hypospadia Marrocco, G; Poscente, M; Majore, S; De Bernardo, C; Rinaldi, R; Del Porto, G; Storniello, G; Grammatico, Paola - 01a Articolo in rivista
rivista: JOURNAL OF PEDIATRIC SURGERY (W B Saunders Company:Fulfillment Department, The Curtis Center, Independence Square West:Philadelphia, PA 19106:(800)654-2452, (215)238-7800, EMAIL: wbspcs@harcourt.com, INTERNET: http://elsevierhealth.com, Fax: (215)238-6445) pp. 1258-1262 - issn: 0022-3468 - wos: WOS:000184649400030 (10) - scopus: 2-s2.0-0041358833 (12)
11573/117743 - 2003 -
Cytogenetic and molecular characterization of a de novo 4q24qter duplication: contribution to the associated phenotype. Rinaldi, R; De Bernardo, C; Assumma, M; Grammatico, B; Buffone, E; Poscente, M; Grammatico, Paola - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 122-126 - issn: 1552-4825 - wos: WOS:000182401400003 (26) - scopus: 2-s2.0-0037487191 (30)
11573/117745 - 2003 -
DNA microarrays and likelihood ratio bioinformatic methods: Discovery of human melanocyte biomarkers Thomas P., Dooley; Ernest V., Curto; Richard L., Davis; Grammatico, Paola; Edward S., Robinson; Teresa W., Wilborn - 01a Articolo in rivista
rivista: PIGMENT CELL RESEARCH (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. 245-253 - issn: 0893-5785 - wos: WOS:000182856000013 (23) - scopus: 2-s2.0-0038240074 (25)
congresso: 18th International Pigment Cell Conference (LEIDEN, NETHERLANDS)
11573/117539 - 2002 -
High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families. M., Mantelli; M., Barile; P., Ciotti; P., Ghiorzo; F., Lantieri; L., Pastorino; C., Catricala; G. D., Torre; U., Folco; Grammatico, Paola; L., Padovani; G., Bianchi Scarra - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 214-221 - issn: 0148-7299 - wos: WOS:000173116600006 (67) - scopus: 2-s2.0-18244408287 (70)
11573/117744 - 2002 -
TWO NOVEL MUTATIONS AND A NEW STK11/LKB GENE ISOFORM IN PEUTZ-JEGHERS PATIENTS. Resta, N.; Stella, A; Susca, Fc; Di Giacomo, M; Forleo, G; Miccolis, I; Rossini, Fp; Genuardi, M; Piepoli, A; Grammatico, Paola; Guanti, G. - 01a Articolo in rivista
rivista: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 78-79 - issn: 1059-7794 - wos: (0) - scopus: 2-s2.0-17144437139 (25)
11573/144774 - 2002 -
12q22q24.33 duplication: case report and review of the literature. S., Cappellacci; S., Martinelli; R., Rinaldi; E., Martinelli; Parisi, Pasquale; B., Mancini; Grammatico, Paola - 04c Atto di convegno in rivista
rivista: EUROPEAN JOURNAL OF HUMAN GENETICS (-NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON, ENGLAND, N1 9XW
-S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. 158-159 - issn: 1018-4813 - wos: WOS:000187166100490 (0) - scopus: (0)
11573/117540 - 2002 -
Absence of hepcidin gene mutations in 10 Italian patients with primary iron overload S., Majore; Ricerca, ; F., Binni; G., Brioli; Grammatico, Paola - 01a Articolo in rivista
rivista: HAEMATOLOGICA (Fondaz Ferrata Storti:Strada Nuova 134, 27100 Pavia Italy:011 39 0382 531182, EMAIL: office@haematologica.it, Fax: 011 39 0382 27721) pp. 221-222 - issn: 0390-6078 - wos: WOS:000173885500018 (8) - scopus: 2-s2.0-0036179898 (8)
11573/117475 - 2001 -
CDKN2A novel mutation in a patient from a melanoma-prone family Grammatico, Paola; F., Binni; L., Eibenschutz; C., De Bernardo; B., Grammatico; R., Rinaldi; C., Catricala - 01a Articolo in rivista
rivista: MELANOMA RESEARCH (Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 447-449 - issn: 0960-8931 - wos: WOS:000171903100002 (4) - scopus: 2-s2.0-0034777020 (3)
11573/117477 - 2001 -
Defining the breakpoints of proximal chromosome 14q rearrangements from a panel of patients with the use of flow sorted
chromosome. Kamnasaran, D; O’Brien, Pcm; Schuffenhauer, S; Lupski, Jr; Grammatico, Paola; Ferguson Smith, Ma; Cox, Dw - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF MEDICAL GENETICS (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 173-182 - issn: 0148-7299 - wos: WOS:000170001400011 (33) - scopus: 2-s2.0-0035425831 (34)
11573/117478 - 2000 -
Dot-fleck retinopathy in the Alport sindrome. Blasi, Ma; Rinaldi, R; Renieri, A; Petrucci, R; De Bernardo, C; Bruttini, M; Grammatico, Paola - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF OPHTHALMOLOGY (Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680) pp. 130-131 - issn: 0002-9394 - wos: WOS:000089407100027 (3) - scopus: 2-s2.0-0033833736 (6)
Del Porto, G; Grammatico, Paola - 02a Capitolo o Articolo
libro: TRATTATO DI MEDICINA INTERNA - ()
11573/118067 - 1999 -
Antioxidant pattern in uveal melanocytes and uveal melanoma cell cultures. Blasi, Ma; Maresca, V; Roccella, M; Roccella, F; Grammatico, Paola; Balestrazzi, E; Picardo, M. - 01a Articolo in rivista
rivista: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (Association for Research in Vision and Ophthalmology (ARVO):12300 Twinbrook Parkway, Suite 250:Rockville, MD 20852:(240)221-2900, EMAIL: arvo@arvo.org, INTERNET: http://www.arvo.org, Fax: (240)221-0370) pp. 3012-3016 - issn: 0146-0404 - wos: WOS:000083406700035 (15) - scopus: 2-s2.0-0032736935 (16)
11573/117537 - 1999 -
46,XX,der(2)(2pter->2q37::10p13->10pter)[127]/45,X,der(2)t(2;10)(2pter->2q37: :10p13->10pter)[23]. Karyotype-phenotype correlation and genetic counselling in complex karyotype. Grammatico, Paola; Majore, S; Marrocco, G; Poscente, M; Mordenti, C; Grammatico, B; Del Porto, Giuseppe - 01a Articolo in rivista
rivista: GENETIC COUNSELING (Medecine et Hygiene:Case Postale 456, CH-1211 Geneva 4 Switzerland:011 41 22 7029311, EMAIL: abonnements@medhyg.ch, INTERNET: http://www.medhyg.ch, Fax: 011 41 22 7029355) pp. 351-358 - issn: 1015-8146 - wos: WOS:000084473400003 (5) - scopus: 2-s2.0-0033428720 (5)
11573/242442 - 1999 -
3p13 region: A possible location of a tumor suppressor gene involved in uveal melanoma M. A., Blasi; F., Roccella; E., Balestrazzi; Del Porto, Giuseppe; N., De Felice; M., Roccella; R., Rota; Grammatico, Paola - 01a Articolo in rivista
rivista: CANCER GENETICS AND CYTOGENETICS (New York, NY: Elsevier Science Incorporated / NY Journals) pp. 81-83 - issn: 0165-4608 - wos: WOS:000077741700015 (20) - scopus: 2-s2.0-0032964616 (22)
11573/118068 - 1999 -
Correlation between antioxidants and phototypes in melanocytes cultures. A possible link of physiologic and pathologic relevance. Picardo, M; Maresca, V; Eibenschutz, L; De Bernardo, C; Rinaldi, R; Grammatico, Paola - 01a Articolo in rivista
rivista: JOURNAL OF INVESTIGATIVE DERMATOLOGY (Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680) pp. 424-425 - issn: 0022-202X - wos: WOS:000082406000023 (34) - scopus: 2-s2.0-0032881361 (38)
11573/118066 - 1998 -
Chain-terminating mutations in the APC gene lead to alterations in APC RNA and protein concentration. Gismondi, V; Stagnaro, P; Pedemonte, S; Biticchi, R; Presciuttini, S; Grammatico, Paola; Sala, P; Bertario, L; Groden, J; Varesco, L. - 01a Articolo in rivista
rivista: GENES, CHROMOSOMES & CANCER (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 278-286 - issn: 1045-2257 - wos: WOS:000074537100003 (17) - scopus: 2-s2.0-0031799627 (17)
11573/247423 - 1998 -
Cytogenetic follow-up in a case with a rimary cutaneous melanoma and five metastatic lesions. Grammatico, Paola; Eibenschutz, L; Roccella, F; Amantea, A; Roccella, M; Catricala', C; Micci, F; Del Porto, Giuseppe - 01a Articolo in rivista
rivista: PIGMENT CELL RESEARCH (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. 314-319 - issn: 0893-5785 - wos: WOS:000077514600007 (3) - scopus: 2-s2.0-0032176182 (4)
11573/117479 - 1998 -
Incresed sensitivity to peroxiding agents is correlated with an imbalance of antioxidants in normal melanocytes from melanoma patients. Grammatico, Paola; Maresca, V; Roccella, F; Roccella, M; Biondo, L; Catricala', C; Picardo, M. - 01a Articolo in rivista
rivista: EXPERIMENTAL DERMATOLOGY (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. 205-212 - issn: 0906-6705 - wos: WOS:000075925900014 (28) - scopus: 2-s2.0-0031656507 (32)
11573/245894 - 1998 -
Detection of a 46,XX,del(3)(p25pter),dup(4)(p16.1pter) by using chromosome microdissection Grammatico, Paola; Roccella, M; De Bernardo, C; Roccella, F; Grammatico, B; Rinaldi, R; Del Porto, Giuseppe - 01a Articolo in rivista
rivista: GENETIC COUNSELING (Medecine et Hygiene:Case Postale 456, CH-1211 Geneva 4 Switzerland:011 41 22 7029311, EMAIL: abonnements@medhyg.ch, INTERNET: http://www.medhyg.ch, Fax: 011 41 22 7029355) pp. 259-264 - issn: 1015-8146 - wos: WOS:000077654600003 (1) - scopus: 2-s2.0-0032414614 (1)
11573/365320 - 1998 -
HLA DR and DQ alleles in Italian patients with melanoma. Lulli, Patrizia; Grammatico, Paola; Brioli, G; Catricalà, C; Morellini, Marina; Roccella, M; Mariani, B; Pennesi, G; Roccella, F; Cappellacci, S; Trabace, Simonetta - 01a Articolo in rivista
rivista: TISSUE ANTIGENS (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. 276-280 - issn: 0001-2815 - wos: WOS:000072386600008 (21) - scopus: 2-s2.0-6844265573 (20)
11573/117535 - 1997 -
2q35qter duplication syndrome: Phenotypic definition Grammatico, Paola; C., Di Rosa; R., Rinaldi; M., Roccella; F., Cupilari; T., Sbezzi; G., Del Porto - 01a Articolo in rivista
rivista: GENETIC COUNSELING (Medecine et Hygiene:Case Postale 456, CH-1211 Geneva 4 Switzerland:011 41 22 7029311, EMAIL: abonnements@medhyg.ch, INTERNET: http://www.medhyg.ch, Fax: 011 41 22 7029355) pp. 327-334 - issn: 1015-8146 - wos: WOS:000071090500008 (2) - scopus: 2-s2.0-0031440712 (4)
11573/117534 - 1997 -
Del(4)(pter->q33:) case report and review of the literature. Grammatico, Paola; Spaccini, L; Di Rosa, C; Cupilari, F; Del Porto, G. - 01a Articolo in rivista
rivista: GENETIC COUNSELING (Medecine et Hygiene:Case Postale 456, CH-1211 Geneva 4 Switzerland:011 41 22 7029311, EMAIL: abonnements@medhyg.ch, INTERNET: http://www.medhyg.ch, Fax: 011 41 22 7029355) pp. 39-42 - issn: 1015-8146 - wos: WOS:A1997WR55300007 (12) - scopus: 2-s2.0-0030961943 (13)
11573/118064 - 1997 -
Increased sensitivity to peroxidative agents as a possible pathogenic factor of melanocyte damage in vitiligo Vittoria, Maresca; Maria, Roccella; Francesca, Roccella; Emanuela, Camera; Giuseppe Del, Porto; Siro, Passi; Grammatico, Paola; Mauro, Picardo - 01a Articolo in rivista
rivista: JOURNAL OF INVESTIGATIVE DERMATOLOGY (Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680) pp. 310-313 - issn: 0022-202X - wos: WOS:A1997XT10300008 (218) - scopus: 2-s2.0-0030799094 (261)
11573/242443 - 1996 -
Granulomatous slack skin. Report of a case and review of the literature. Balus, L; Manente, L; Remotti, D; Grammatico, Paola; Bellocci, M. - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF DERMATOPATHOLOGY (Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 199-206 - issn: 0193-1091 - wos: WOS:A1996UH67200015 (32) - scopus: 2-s2.0-0029926389 (36)
11573/242555 - 1996 -
Analysis of the neurofibromatosis type 2 gene in different human tumors of neuroectodermic origin. De Vitis, Lr; Tedde, A; Vitelli, F; Ammannati, F; Mennonna, P; Bono, P; Grammatico, B; Grammatico, Paola; Radice, P; Bigozzi, U; Montali, E; Papi, L. - 01a Articolo in rivista
rivista: HUMAN GENETICS (Germany: Springer Verlag Germany) pp. 638-641 - issn: 0340-6717 - wos: WOS:A1996UE04900018 (23) - scopus: 2-s2.0-13344269669 (29)
11573/118062 - 1996 -
The same molecular mechanism at the maternal meiosis I procedures mono- and dicentric 8p duplications. Floridia, G; Piantanida, M; Minelli, A; Dellavecchia, C; Bonaglia, C; Rossi, E; Gimelli, G; Croci, G; Franchi, F; Gilgenkrantz, S; Grammatico, Paola; Dalprà, L. - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF HUMAN GENETICS (University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811) pp. 785-796 - issn: 0002-9297 - wos: WOS:A1996UA38000017 (105) - scopus: 2-s2.0-19144369894 (110)
11573/117531 - 1996 -
Trisomy 20 in a papillar urothelial carcinoma of ureter. Grammatico, Paola; Lombardo, A; Governatori, M; Mordenti, C; Poscente, M; Del Porto, G. - 01a Articolo in rivista
rivista: CANCER GENETICS AND CYTOGENETICS (New York, NY: Elsevier Science Incorporated / NY Journals) pp. 132-134 - issn: 0165-4608 - wos: WOS:A1996VJ10800008 (4) - scopus: 2-s2.0-0029813880 (3)
11573/247096 - 1996 -
Imbalance of the antioxidant pool in malignant melanocytes and in normal melanocytes from melanoma patients. Picardo, M; Grammatico, Paola; Roccella, F; Roccella, M; Grandinetti, M; Del Porto, Giuseppe; Passi, S. - 01a Articolo in rivista
rivista: JOURNAL OF INVESTIGATIVE DERMATOLOGY (Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680) pp. 322-326 - issn: 0022-202X - wos: WOS:A1996VD79000007 (95) - scopus: 2-s2.0-0029833069 (103)
11573/151858 - 1995 -
L’importanza della genetica medica nella prevenzione Del Porto, G; Grammatico, Paola - 02a Capitolo o Articolo
libro: Bioetica - ()
11573/256860 - 1995 -
Involvement of the 4q21 region in human malignant melanomas. Cytogenetics and immunocytochemical characterization of three primary cell cultures. Grammatico, Paola; Roccella, M; Catricalà, C; Roccella, F; Bucher, S; Mordenti, C; Amantea, A; Di Rosa, C; Del Porto, Giuseppe - 01a Articolo in rivista
rivista: WORLD JOURNAL OF SURGERY (Springer-Verlag New York Incorporated:175 Fifth Avenue:New York, NY 10010:(212)460-1500, EMAIL: orders@springer-ny.com, INTERNET: http://www.springer-ny.com, Fax: (212)533-3503) pp. 350-351 - issn: 0364-2313 - wos: WOS:A1995RD00400007 (6) - scopus: 2-s2.0-0029006778 (6)
11573/47383 - 1995 -
Gardner syndrome: diagnostic, clinical and genetic questions in the light of 2 case reports. Messinetti, Silvio; Del Porto, Giuseppe; Giacomelli, Laura; Gagliarducci, E; Grammatico, Paola; Manno, A; Fabrizio, G; Finizio, R; Pulcini, Angelo; Granai, Av - 01a Articolo in rivista
rivista: ANNALI ITALIANI DI CHIRURGIA (Roma : Luigi Pozzi, 2005-
Bologna : Cappelli Licinio 1922-2005) pp. 497-512 - issn: 0003-469X - wos: (0) - scopus: 2-s2.0-0029332021 (0)
11573/117818 - 1994 -
A low NM23.H1 gene expression identifies human melanomas of higher malignancy. Caligo, Ma; Grammatico, Paola; Cipollini, G; Varesco, L; Del Porto, Giuseppe; Bevilacqua, G. - 01a Articolo in rivista
rivista: MELANOMA RESEARCH (Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 179-184, - issn: 0960-8931 - wos: WOS:A1994NV78000006 (25) - scopus: 2-s2.0-0028361113 (25)
11573/422702 - 1994 -
" Pale discs, nystagmus and signs of cone dysfunction on ERG Testing; a puzzling case. Forte, R.; Iannaccone, A.; Vingolo, E. M.; Grammatico, Paola; Arrico, Loredana; Pannarale, M. R. - 04a Atto di comunicazione a congresso
rivista: OPHTHALMIC GENETICS (-TAYLOR & FRANCIS INC, 325 CHESTNUT ST, SUITE 800, PHILADELPHIA, USA, PA, 19106
-Aeolus Press:PO Box 740, 4116 ZJ Buren Netherlands:011 31 344 6572055, Fax: 011 31 344 6572562) pp. 17-17 - issn: 1381-6810 - wos: (0) - scopus: (0)
congresso: Inherited Paediatric Retinal Disorders' (Monaco)
libro: Abstract BooK - ()
11573/181283 - 1994 -
Genetica e Medicina. Contributi allo studio della patologia umana. ETAS Ed. 1994. G., Del Porto; Grammatico, Paola - 03a Saggio, Trattato Scientifico
libro: Genetica e Medicina. Contributo allo studio della patologia umana - (8845306720)
11573/117816 - 1994 -
Granulomatous slack skin: cytogenetic and molecular analyses. Grammatico, Paola; Balus, L; Scarpa, Susanna; Varesco, L; Di Rosa, C; Grammatico, B; Del Porto, Giuseppe - 01a Articolo in rivista
rivista: CANCER GENETICS AND CYTOGENETICS (New York, NY: Elsevier Science Incorporated / NY Journals) pp. 96-100 - issn: 0165-4608 - wos: WOS:A1994NN05800004 (21) - scopus: 2-s2.0-0028222544 (20)
11573/117817 - 1994 -
Mutation in a splice-donor site of the APC gene in a family with polyposis and late age of colon cancer death. Varesco, L; Gismondi, V; Presciuttini, S; Groden, J; Spirio, L; Sala, P; Rossetti, C; De Benedetti, L; Bafico, A; Heouaine, A; Grammatico, Paola; Del Porto, Giuseppe - 01a Articolo in rivista
rivista: HUMAN GENETICS (Germany: Springer Verlag Germany) pp. 281-286 - issn: 0340-6717 - wos: WOS:A1994MY44700010 (59) - scopus: 2-s2.0-0028014412 (57)
11573/120013 - 1993 -
DIAGNOSTIC AND PROGNOSTIC VALUE OF CYTOGENETIC STUDY IN LYMPHOMATOID CONTACT-DERMATITIS VERSUS CUTANEOUS T-CELL LYMPHOMA Grammatico, Paola; Bottoni, Ugo; K., Steindl; A., Heouaine; Carlesimo, Marta; C., Dirosa; C., Debernardo; G., Delporto - 01a Articolo in rivista
rivista: JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH (Attuale:APSIT ASSOC PROM STUD IMMUNOL TUMOR, VIALE REGINA ELENA 291, ROME, ITALY, 00161
Centro Ricerca Sperimentale:Via Delle Messi d Oro 156, 00158 Rome Italy:011 39 06 52662536, EMAIL: journal@ifo.it, INTERNET: http://crs.ifo.it, Fax: 011 39 06 52662505) pp. 179-184 - issn: 0392-9078 - wos: WOS:A1993MC62300009 (0) - scopus: 2-s2.0-0027451302 (0)
Grammatico, Paola; Catricala, C.; Potenza, C.; Amantea, A.; Roccella, M.; Roccella, F.; Eibenschutz, ; Del Porto, Giuseppe - 01a Articolo in rivista
rivista: MELANOMA RESEARCH (Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 169-172 - issn: 0960-8931 - wos: WOS:A1993LR54600004 (12) - scopus: 2-s2.0-0027170785 (17)
11573/117474 - 1993 -
Karyotype modifications in human malignant melanoma cell cultures after treatment with azelaic acid. Grammatico, Paola; Scarpa, Susanna; Picardo, M; Steindl, K; Nazzaro Porro, M; Del Porto, G. - 01a Articolo in rivista
rivista: MUTATION RESEARCH (Amsterdam: Elsevier) pp. 119-123 - issn: 0027-5107 - wos: WOS:A1993LJ66000007 (3) - scopus: 2-s2.0-0027217409 (7)
11573/117814 - 1993 -
Identification of APC gene mutations in italian adenomatous polyposis coli patients by PCR-SSCP analysis. Varesco, L; Gismondi, V; James, R; Robertson, M; Grammatico, Paola; Groden, J; Casarino, L; De Benedetti, L; Bafico, A; Bertario, L; Sala, P; Sassatelli, R. - 01a Articolo in rivista
rivista: AMERICAN JOURNAL OF HUMAN GENETICS (University of Chicago Press:PO Box 37005, Journals Division:Chicago, IL 60637:(877)705-1878, (877)705-1878, (773)753-2247, EMAIL: subscriptions@press.uchicago.edu, INTERNET: http://www.press.uchicago.edu, Fax: (877)705-1879, (773)753-0811) pp. 280-285 - issn: 0002-9297 - wos: WOS:A1993KN27500005 (114) - scopus: 2-s2.0-0027535407 (112)
11573/93539 - 1992 -
Congenital heart disease, infertility, malformations: case report Del Porto, G; Gueli, Nicolo'; Sciarra, A; Grammatico, Paola; Uccini, S; Carmenini, G. - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF INTERNAL MEDICINE (Elsevier BV:PO Box 211, 1000 AE Amsterdam Netherlands:011 31 20 4853757, 011 31 20 4853642, 011 31 20 4853641, EMAIL: nlinfo-f@elsevier.nl, INTERNET: http://www.elsevier.nl, Fax: 011 31 20 4853598) pp. 167-170 - issn: 0953-6205 - wos: (0) - scopus: 2-s2.0-0026564892 (0)
11573/397415 - 1992 -
Lentigo maligna. Cytogenetic, ultrastructural, and phenotypic characterization of a primary cell culture. Grammatico, Paola; Modesti, Andrea; Steindl, K; Scarpa, Susanna; Heouaine, A; Picardo, M; Del Porto, G. - 01a Articolo in rivista
rivista: CANCER GENETICS AND CYTOGENETICS (New York, NY: Elsevier Science Incorporated / NY Journals) pp. - - issn: 0165-4608 - wos: WOS:A1992JB57500006 (12) - scopus: 2-s2.0-0026633924 (11)
11573/416749 - 1991 -
studio del capello in un caso di displasia ectodermica ipoidrotica G. L., Costanzo; P., Moscatelli; Giustini, Sandra; P., Grava; Grammatico, Paola; Calvieri, Stefano - 01a Articolo in rivista
rivista: GIORNALE INTERNAZIONALE DI DERMATOLOGIA PEDIATRICA (CIC Edizioni Internazionali:Corso Trieste N 42, I 00198 Rome Italy:011 39 06 8412673, EMAIL: abbonamenti@gruppocic.it, INTERNET: http://www.gruppocic.it, Fax: 011 39 06 8412688) pp. - - issn: 1120-0499 - wos: (0) - scopus: (0)
11573/601604 - 1990 -
A male patient with 48,XXYY syndrome: importance of distinction from Klinefelter's syndrome. Grammatico, Paola; Bottoni, Ugo; De Sanctis, S; Sulli, Nicoletta; Tonanzi, T; Onorio, Ac; Del Porto, G. - 01a Articolo in rivista
rivista: CLINICAL GENETICS (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. - - issn: 0009-9163 - wos: (0) - scopus: (0)
11573/397421 - 1990 -
Human malignant melanoma. Significance of chromosomal abnormalities. Grammatico, Paola; Lo Re, Ml; Scarpa, Susanna; Modesti, Andrea; Del Porto, G. - 01a Articolo in rivista
rivista: CANCER GENETICS AND CYTOGENETICS (New York, NY: Elsevier Science Incorporated / NY Journals) pp. - - issn: 0165-4608 - wos: WOS:A1990DZ25100012 (15) - scopus: 2-s2.0-0025127863 (13)
11573/412430 - 1989 -
SU UN CASO DI NEVO CONGENITO GIGANTE: PROGNOSI E CONDOTTA TERAPEUTICA, Calvieri, Stefano; Giustini, Sandra; Zampetti, M; Cervone, F; Giannell, V; Rossi, A; Grammatico, Paola; Lo Re, M. L. - 01a Articolo in rivista
rivista: GIORNALE DI CHIRURGIA PLASTICA RICOSTRUTTIVA ED ESTETICA (Casa Editrice Libraria Idelson Gnocchi:Via Michele Pietravalle 85, 80131 Napoli Italy:011 39 081 5524733, EMAIL: idelgno@tin.it, INTERNET: http://www.idelson-gnocchi.com, Fax: 011 39 081 5464991) pp. 163-172 - issn: 1120-0405 - wos: (0) - scopus: 2-s2.0-0024953451 (0)
11573/215654 - 1989 -
Cardiopatia congenita complessa, ipoplasia ovarica, sterilità. Studio genetico e considerazioni cliniche Gueli, Nicolo'; Zia, N; Martusciello, S; Sciarra, A; Grammatico, Paola; Carmenini, G. - 04a Atto di comunicazione a congresso
congresso: 90^ Congresso Nazionale della Società Italiana di Medicina Interna (Roma)
libro: Atti 90^ Congresso Nazionale della Società Italiana di Medicina Interna - ()
11573/397427 - 1989 -
Establishment and characterization of a human neuroblastoma cell line. Scarpa, Susanna; Dominici, Carlo; Grammatico, Paola; Del Porto, G; Raschellà, G; Castello, M; Forni, G; Modesti, Andrea - 01a Articolo in rivista
rivista: INTERNATIONAL JOURNAL OF CANCER (Hoboken N.J.: Wiley
New York NY: Wiley-Liss) pp. - - issn: 0020-7136 - wos: WOS:A1989U113900017 (9) - scopus: 2-s2.0-0024510218 (7)