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)
11573/1673820 - 2023 -
RADX Gene Variant May Predispose to Familial Asperger Syndrome Azzarà, Alessia; Rumore, Roberto; Brugnoletti, Fulvia; Tabolacci, Elisabetta; Bottillo, Irene; Sangiorgi, Eugenio; Gurrieri, Fiorella - 01a Articolo in rivista
rivista: GENES (Basel : Molecular Diversity Preservation International) pp. 301- - issn: 2073-4425 - wos: WOS:000938539100001 (0) - scopus: 2-s2.0-85148938373 (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)
11573/1664329 - 2023 -
Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome Shi, Xiaomeng; Wang, Hong; Zhang, Ruixiao; Liu, Zhiying; Guo, Wencong; Wang, Sai; Liu, Xuyan; Lang, Yanhua; Bottillo, Irene; Dong, Bingzi; Shao, Leping - 01a Articolo in rivista
rivista: MOLECULAR GENETICS & GENOMIC MEDICINE ([Hoboken, NJ] : John Wiley & Sons, [2013]-) pp. - - issn: 2324-9269 - wos: WOS:000906589900001 (1) - scopus: 2-s2.0-85145553232 (1)
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)
11573/1617018 - 2022 -
Congenital heart defects in the recurrent 2q13 deletion syndrome Digilio, M. C.; Dentici, M. L.; Loddo, S.; Laino, L.; Calcagni, G.; Genovese, S.; Capolino, R.; Bottillo, I.; Calvieri, G.; Dallapiccola, B.; Marino, B.; Novelli, A.; Versacci, P. - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF MEDICAL GENETICS (AMSTERDAM, NETHERLANDS,: ELSEVIER SCIENCE BV) pp. - - issn: 1769-7212 - wos: WOS:000740234500004 (7) - scopus: 2-s2.0-85120864733 (8)
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)
11573/1571961 - 2021 -
The PI3K pathway induced by αMSH exerts a negative feedback on melanogenesis and contributes to the release of pigment Mosca, S.; Cardinali, G.; Flori, E.; Briganti, S.; Bottillo, I.; Mileo, A. M.; Maresca, V. - 01a Articolo in rivista
rivista: PIGMENT CELL & MELANOMA RESEARCH (Oxford : Blackwell Munksgaard, 2008-) pp. 72-88 - issn: 1755-1471 - wos: WOS:000548532100001 (11) - scopus: 2-s2.0-85088107514 (12)
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)
11573/1485739 - 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)
11573/1571975 - 2021 -
Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay Zhang, R.; Chen, Z.; Song, Q.; Wang, S.; Liu, Z.; Zhao, X.; Shi, X.; Guo, W.; Lang, Y.; Bottillo, I.; Shao, 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. 1153-1164 - issn: 1059-7794 - wos: WOS:000668380400001 (13) - scopus: 2-s2.0-85113265680 (12)
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)
11573/1473676 - 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)
11573/1443327 - 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)
11573/1571965 - 2020 -
Six exonic variants in the SLC5A2 gene cause exon skipping in a minigene assay Wang, S.; Wang, Y.; Wang, J.; Liu, Z.; Zhang, R.; Shi, X.; Han, Y.; Guo, W.; Bottillo, I.; Shao, L. - 01a Articolo in rivista
rivista: FRONTIERS IN GENETICS (Lausanne : Frontiers Research Foundation, 2010-) pp. - - issn: 1664-8021 - wos: WOS:000591581800001 (8) - scopus: 2-s2.0-85096380394 (9)
11573/1571969 - 2019 -
Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I Han, Y.; Zhao, X.; Wang, S.; Wang, C.; Tian, D.; Lang, Y.; Bottillo, I.; Wang, X.; Shao, L. - 01a Articolo in rivista
rivista: ENDOCRINE (New York, Berlin: Springer
Totowa, NJ: Humana Press Incorporated
Basingstoke : Macmillan, 1994-) pp. 708-718 - issn: 1355-008X - wos: WOS:000473710000028 (10) - scopus: 2-s2.0-85061965292 (12)
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)
11573/1207370 - 2018 -
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome Brancati, Francesco; Camerota, Letizia; Colao, Emma; Vega-Warner, Virginia; Zhao, Xiangzhong; Zhang, Ruixiao; Bottillo, Irene; Castori, Marco; Caglioti, Alfredo; Sangiuolo, Federica; Novelli, Giuseppe; Perrotti, Nicola; Otto, Edgar A.; Taruscio, Domenica; Salvatore, Marco; De Stefano, Maria Chiara; Censi, Federica; Floridia, Giovanna; Brancati, Francesco; Daina, Erica; Iatropoulos, Paraskevas; Ferlini, Alessandra; Roccatello, Dario; Baldovino, Simone; Menegatti, Elisa; Bembi, Bruno - 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. 1266-1271 - issn: 1018-4813 - wos: WOS:000443154200005 (11) - scopus: 2-s2.0-85048351764 (11)
11573/1176648 - 2018 -
Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: A case report Lu, J; Zhao, X; Paiardini, A; Lang, Y; Bottillo, I; Shao, L - 01a Articolo in rivista
rivista: BMC NEPHROLOGY (London: BioMed Central, 2000-) pp. 181- - issn: 1471-2369 - wos: WOS:000438997000005 (3) - scopus: 2-s2.0-85049898689 (3)
11573/1571973 - 2018 -
A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II Shao, L.; Cui, L.; Lu, J.; Lang, Y.; Bottillo, I.; Zhao, X. - 01a Articolo in rivista
rivista: FEBS OPENBIO (Amsterdam : Elsevier) pp. 461-469 - issn: 2211-5463 - wos: WOS:000426502600016 (15) - scopus: 2-s2.0-85041512876 (17)
11573/1207368 - 2018 -
Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report Zhang, R; Wang, J; Wang, Q; Han, Y; Liu, X; Bottillo, I; Lang, Y; Shao, L. - 01i Case report
rivista: BMC MEDICAL GENETICS (London: BioMed Central, 2000-) pp. - - issn: 1471-2350 - wos: WOS:000445197500001 (8) - scopus: 2-s2.0-85055122423 (8)
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)
11573/1155402 - 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)
11573/931868 - 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)
11573/1207372 - 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)
11573/892807 - 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)
11573/1571963 - 2016 -
A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria Zhao, X.; Cui, L.; Lang, Y.; Liu, T.; Lu, J.; Wang, C.; Tuffery-Giraud, S.; Bottillo, I.; Wang, X.; Shao, L. - 01a Articolo in rivista
rivista: SCIENTIFIC REPORTS (London: Springer Nature
London: Nature Publishing Group) pp. - - issn: 2045-2322 - wos: WOS:000384044500001 (17) - scopus: 2-s2.0-84988985776 (16)
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)
11573/878582 - 2015 -
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas Pinna, Valentina; Lanari, Valentina; Daniele, Paola; Consoli, Federica; Agolini, Emanuele; Margiotti, Katia; Bottillo, Irene; Torrente, Isabella; Bruselles, Alessandro; Fusilli, Caterina; Ficcadenti, Anna; Bargiacchi, Sara; Trevisson, Eva; Forzan, Monica; Giustini, Sandra; Leoni, Chiara; Zampino, Giuseppe; Digilio, Maria Cristina; Dallapiccola, Bruno; Clementi, Maurizio; Tartaglia, Marco; De Luca, Alessandro - 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. 1068-1071 - issn: 1018-4813 - wos: WOS:000358006100014 (95) - scopus: 2-s2.0-84937517366 (108)
11573/1571967 - 2015 -
Two novel HOGA1 splicing mutations identified in a Chinese patient with primary hyperoxaluria type 3 Wang, X.; Zhao, X.; Wang, X.; Yao, J.; Zhang, F.; Lang, Y.; Tuffery-Giraud, S.; Bottillo, I.; Shao, L. - 01i Case report
rivista: AMERICAN JOURNAL OF NEPHROLOGY (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. 78-84 - issn: 0250-8095 - wos: WOS:000361498000012 (18) - scopus: 2-s2.0-84941218856 (20)
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)
11573/617465 - 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)
11573/738463 - 2014 -
Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation Nicita, F; Spalice, A; Bottillo, Irene; Pinna, V; Ursitti, F; Ruggieri, M. - 01i Case report
rivista: JOURNAL OF CLINICAL NEUROSCIENCE (Amsterdam: Elsevier Science Ltd.
South Melbourne Vic.: Churchill Livingstone
Harcourt Publishers Limited) pp. 328-330 - issn: 0967-5868 - wos: WOS:000332192700030 (2) - scopus: 2-s2.0-84892594247 (2)
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)
11573/380163 - 2011 -
Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion Pizzuti, Antonio; Bottillo, Irene; Inzana, Francesca; Valentina, Lanari; Buttarelli, Francesca Romana; Isabella, Torrente; Giallonardo, Anna Teresa; Alessandro, Luca; De Luca, A.; 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. 233-240 - issn: 1364-6745 - wos: WOS:000294059600008 (8) - scopus: 2-s2.0-80052730873 (9)
11573/542299 - 2011 -
Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1 Ruggieri, Martino; Mastrangelo, Mario; Spalice, Albert; Mariani, Rosanna; Torrente, Isabella; Polizzi, Agata; Bottillo, Irene; Di Biase, Claudio; Iannetti, 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. 582-585 - issn: 1552-4825 - wos: WOS:000288033300020 (17) - scopus: 2-s2.0-79951968333 (20)
11573/69603 - 2010 -
Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion Bottillo, Irene; Isabella, Torrente; Valentina, Lanari; Valentina, Pinna; Giustini, Sandra; Luigina, Divona; Alessandro De, Luca; Bruno, Dallapiccola - 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. 1467-1473 - issn: 1552-4825 - wos: WOS:000278752000018 (20) - scopus: 2-s2.0-77952772805 (28)
11573/738469 - 2010 -
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome Francesco, Brancati; Paola, Fortugno; Bottillo, Irene; Marc, Lopez; Emmanuelle, Josselin; Omar Boudghene Stambouli, ; Emanuele, Agolini; Laura, Bernardini; Emanuele, Bellacchio; Miriam, Iannicelli; Rossi, Alfredo; Amina Dib Lachachi, ; Liborio, Stuppia; Giandomenico, Palka; Stefan, Mundlos; Sigmar, Stricker; Uwe, Kornak; Giovanna, Zambruno; Bruno, Dallapiccola - 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. 265-273 - issn: 0002-9297 - wos: WOS:000281107000011 (87) - scopus: 2-s2.0-77955579487 (92)
11573/143604 - 2010 -
High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? Laura, Bernardini; Viola, Alesi; Sara, Loddo; Antonio, Novelli; Bottillo, Irene; Agatino, Battaglia; Maria Cristina Digilio, ; Giuseppe, Zampino; Adam, Ertel; Fortina, Paolo; Saul, Surrey; 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. 178-185 - issn: 1018-4813 - wos: WOS:000273676600009 (40) - scopus: 2-s2.0-74449092827 (47)
11573/229382 - 2010 -
Triple A syndrome: A novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency Luigetti, M.; Pizzuti, Antonio; Bartoletti, S.; Houlden, H.; Pirro, Cristina; Bottillo, I.; Madia, F.; Conte, A.; Tonali, P. A.; Sabatelli, M.; Bottillo, Irene - 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. 150-152 - issn: 0022-510X - wos: WOS:000274987200032 (12) - scopus: 2-s2.0-74849111707 (12)
11573/738663 - 2010 -
TBX2 gene duplication associated with complex heart defect and skeletal malformations Radio, Fc; Bernardini, L; Loddo, S; Bottillo, Irene; Novelli, A; Mingarelli, R; 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. 2061-2066 - issn: 1552-4825 - wos: WOS:000280925800028 (20) - scopus: 2-s2.0-77955299512 (21)
11573/738665 - 2010 -
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy Sinibaldi, L; Harifi, G; Bottillo, Irene; Iannicelli, M; El Hassani, S; Brancati, F; Dallapiccola, B. - 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. - - issn: 0392-856X - wos: WOS:000278303900002 (29) - scopus: 2-s2.0-77952782216 (39)
11573/738671 - 2009 -
HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication Bernardini, L; Sinibaldi, L; Capalbo, A; Bottillo, Irene; Mancuso, B; Torres, B; Novelli, A; Digilio, Mc; Dallapiccola, B. - 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. 117-119 - issn: 0009-9163 - wos: WOS:000268051600017 (16) - scopus: 2-s2.0-67650881987 (21)
11573/738673 - 2009 -
Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours Bottillo, Irene; Ahlquist, T; Brekke, H; Danielsen, Sa; Van Den Berg, E; Mertens, F; Lothe, Ra; Dallapiccola, B. - 01a Articolo in rivista
rivista: JOURNAL OF PATHOLOGY (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: 0022-3417 - wos: WOS:000264674900009 (92) - scopus: 2-s2.0-64549151639 (105)
11573/738676 - 2008 -
RAS signaling in colorectal carcinomas through alteration of RAS, RAF, NF1, and/or RASSF1A Ahlquist, T; Bottillo, Irene; Danielsen, Sa; Meling, Gi; Rognum, To; Lind, Ge; Dallapiccola, B; Lothe, Ra - 01a Articolo in rivista
rivista: NEOPLASIA (Nature Publishing Group:Brunel Road Houndmills, Basingstoke RG21 6XS United Kingdom:011 44 20 78334000, EMAIL: institutions@natureny.com, INTERNET: http://www.nature.com, Fax: 011 44 20 78434640) pp. 680-686 - issn: 1522-8002 - wos: WOS:000256768800006 (47) - scopus: 2-s2.0-45849120146 (54)
11573/738788 - 2008 -
Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes Bernardini, L; Palka, C; Ceccarini, C; Capalbo, A; Bottillo, Irene; Mingarelli, R; Novelli, A; 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. 238-244 - issn: 1552-4825 - wos: WOS:000252134400015 (28) - scopus: 2-s2.0-37849042808 (29)
11573/738675 - 2008 -
Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF Carbone, A; Bernardini, L; Valenzano, F; Bottillo, Irene; De Simone, C; Capizzi, R; Capalbo, A; Romano, F; Novelli, A; Dallapiccola, B; Amerio, P. - 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. - - issn: 1045-2257 - wos: WOS:000260397800004 (39) - scopus: 2-s2.0-57149107372 (48)
11573/48452 - 2007 -
Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification A., De Luca; M. C., Dasdia; A., Morella; V., Lanari; L., Bernardini; Divona, Luigina; Giustini, Sandra; L., Sinibaldi; A., Novelli; I., Torrente; A., Schirinzi; Dalla Piccola, Bruno; Bottillo, Irene - 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. 800-808 - issn: 0022-2593 - wos: WOS:000251317700010 (62) - scopus: 2-s2.0-37249043142 (68)
11573/362642 - 2007 -
Functional analysis of splicing mutations in exon 7 of NFI gene Bottillo, I.; De Luca, A.; Schirinzi, A.; Guida, V.; Torrente, I.; Calvieri, Stefano; Gervasini, C.; Larizza, L.; Pizzuti, Antonio; Dalla Piccola, Bruno - 01a Articolo in rivista
rivista: BMC MEDICAL GENETICS (London: BioMed Central, 2000-) pp. 12;8:4-12;8:4 - issn: 1471-2350 - wos: WOS:000244329300001 (26) - scopus: 2-s2.0-33847314717 (31)
11573/359585 - 2007 -
Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes Sarkozy, A; Schirinzi, A; Lepri, F; Bottillo, I; De Luca, A; Pizzuti, Antonio; Tartaglia, M; Digilio, Mc; Dalla Piccola, Bruno - 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. 1009-1011 - issn: 1552-4825 - wos: WOS:000246168100016 (9) - scopus: 2-s2.0-34247866378 (12)
11573/362378 - 2005 -
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome De Luca, A.; Bottillo, I.; Sarkozy, C.; Carta, C.; Neri, C.; Bellacchio, E.; Schirinzi, A.; Conti, E.; Zampino, G.; Battaglia, A.; Majore, S.; Rinaldi, M. M.; Carella, M.; Marino Taussig De Bodonia, Bruno; Pizzuti, Antonio; Digilio, M. C.; Tartaglia, M.; Dalla Piccola, Bruno - 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. 1092-1101 - issn: 0002-9297 - wos: WOS:000233241200017 (111) - scopus: 2-s2.0-28144437387 (124)
11573/357804 - 2004 -
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. De Luca, A.; Annalisa, Schirinzi; Anna, Buccino; Bottillo, Irene; Lorenzo, Sinibaldi; Isabella, Torrente; Angela, Ciavarella; Tania, Dottorini; Roberto, Porciello; Giustini, Sandra; Calvieri, Stefano; Dalla Piccola, Bruno - 01a Articolo in rivista
rivista: HUMAN MUTATION ([New York, N.Y.] : Wiley-Liss, Inc., c1992-) pp. 629-629 - issn: 1098-1004 - wos: WOS:000208804100002 (47) - scopus: 2-s2.0-4544293896 (48)