ANTONIO PIZZUTI

Professore ordinario

email: antonio.pizzuti@uniroma1.it

Produzione scientifica

11573/1721154 - 2025 - Re-analysis of next-generation sequencing data in patients with hypertrophic cardiomyopathy: contribution of spliceogenic MYBPC3 variants in an italian cohort

Caroselli, Silvia; Fabiani, Marco; Micolonghi, Caterina; Savio, Camilla; Tini, Giacomo; Musumeci, Beatrice; Pagannone, Erika; Germani, Aldo; Libi, Fabio; Visco, Vincenzo; Pizzuti, Antonio; Autore, Camillo; Petrucci, Simona; Rubattu, Speranza; Piane, Maria - 01a Articolo in rivista

rivista: ANNALS OF LABORATORY MEDICINE (Korean Association of Medical Journal Editors.) pp. 96-100 - issn: 2234-3806 - wos: (0) - scopus: 2-s2.0-85211349410 (0)

11573/1707158 - 2024 - Small RNAs and tooth development: the role of microRNAs in tooth agenesis and impaction

Giovannetti, Agnese; Guarnieri, Rosanna; Petrizzelli, Francesco; Lazzari, Sara; Padalino, Gabriella; Traversa, Alice; Napoli, Alessandro; Di Giorgio, Roberto; Pizzuti, Antonio; Parisi, Chiara; Mazza, Tommaso; Barbato, Ersilia; Caputo, Viviana - 01a Articolo in rivista

rivista: JOURNAL OF DENTAL SCIENCES (Taipei : Council on Publication of the Association for Dental Sciences of the Republic of China) pp. 2150-2156 - issn: 1991-7902 - wos: WOS:001315513700001 (0) - scopus: 2-s2.0-85188426688 (0)

11573/1715761 - 2024 - First-trimester cystic hygroma as the prenatal presenting feature of ASCC1-related spinal muscular atrophy withith congenital bone fractures

Guadagnolo, Daniele; Mastromoro, Gioia; Hashemian, Nader Khaleghi; Orlando, Valeria; Lepri, Francesca Romana; D'alberti, Elena; Zullo, Fabrizio; Giancotti, Antonella; Novelli, Antonio; Pizzuti, Antonio - 01a Articolo in rivista

rivista: EUROPEAN JOURNAL OF HUMAN GENETICS (First or current publisher Basel ; New York : Karger, [1992]- Intervening publisher [Houndmills, Basingstoke, Hampshire, UK] : Stockton Press Intervening publisher [London?] : MacMillan Publishers Ltd. Current or last publisher [London] : Nature Publishing Group) pp. - - issn: 1476-5438 - wos: WOS:001147414902058 (0) - scopus: (0)

11573/1706342 - 2024 - Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis

Marchionni, Enrica; Guadagnolo, Daniele; Mastromoro, Gioia; Pizzuti, Antonio - 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:001183707600002 (1) - scopus: 2-s2.0-85187723440 (1)

11573/1725554 - 2024 - Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules

Mastromoro, Gioia; Santoro, Claudia; Motta, Marialetizia; Sorrentino, Ugo; Daniele, Paola; Peduto, Cristina; Petrizzelli, Francesco; Tripodi, Martina; Pinna, Valentina; Zanobio, Mariateresa; Rotundo, Giovannina; Bellacchio, Emanuele; Lepri, Francesca; Farina, Antonella; D'asdia, Maria Cecilia; Piceci-Sparascio, Francesca; Biagini, Tommaso; Petracca, Antonio; Castori, Marco; Melis, Daniela; Accadia, Maria; Traficante, Giovanna; Tarani, Luigi; Fontana, Paolo; Sirchia, Fabio; Paparella, Roberto; Currò, Aurora; Benedicenti, Francesco; Scala, Iris; Dentici, Maria Lisa; Leoni, Chiara; Trevisan, Valentina; Cecconi, Antonella; Giustini, Sandra; Pizzuti, Antonio; Salviati, Leonardo; Novelli, Antonio; Zampino, Giuseppe; Zenker, Martin; Genuardi, Maurizio; Cristina Digilio, Maria; Papi, Laura; Perrotta, Silverio; Nigro, Vincenzo; Castellanos, Elisabeth; Mazza, Tommaso; Trevisson, Eva; Tartaglia, Marco; Piluso, Giulio; De Luca, Alessandro - 01a Articolo in rivista

rivista: GENETICS IN MEDICINE (New York: Elsevier Inc. Baltimore MD: Lippincott Williams & Wilkins) pp. - - issn: 1530-0366 - wos: WOS:001331416400001 (0) - scopus: 2-s2.0-85205222251 (0)

11573/1721159 - 2024 - Unveiling the spectrum of minor genes in cardiomyopathies: a narrative review

Micolonghi, Caterina; Perrone, Federica; Fabiani, Marco; Caroselli, Silvia; Savio, Camilla; Pizzuti, Antonio; Germani, Aldo; Visco, Vincenzo; Petrucci, Simona; Rubattu, Speranza; Piane, Maria - 01g Articolo di rassegna (Review)

rivista: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel: MDPI Center) pp. - - issn: 1422-0067 - wos: WOS:001322885400001 (1) - scopus: 2-s2.0-85205307138 (1)

11573/1710607 - 2024 - Neurodevelopmental outcome of a child with UPD(16)mat: A case report

Novelli, Maria; Mammarella, Valeria; Calandriello, Francesca; Temofonte, Sara; Goldoni, Marina; Macchiarulo, Ilaria; Versacci, Paolo; Pizzuti, Antonio; Petrilli, Jessica; Brina, Carlo Di; Caravale, Barbara - 01i Case report

rivista: GLOBAL PEDIATRICS (New York: Elsevier Inc.) pp. - - issn: 2667-0097 - wos: (0) - scopus: (0)

11573/1727024 - 2024 - EP18.19: Prenatal diagnosis of Cantú syndrome during the second trimester due to a novel ABCC9 pathogenic variant: a case report

Vasta, A.; D'ambrosio, V.; Di Mascio, D.; Bottillo, I.; Formicola, D.; Bacigalupo, F.; Grammatico, P.; Pizzuti, A.; Rizzo, G.; Giancotti, A. - 01h Abstract 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. - - issn: 0960-7692 - wos: (0) - scopus: (0)

11573/1699023 - 2023 - EP24.35: Ultrasound prenatal diagnosis of congenital cardiac septal defects: genetic association and perinatal outcome

Bartolone, M.; Vena, F.; D'alberti, E.; Vasta, A.; D'ambrosio, V.; Di Mascio, D.; Brunelli, R.; Pizzuti, A.; Giancotti, A. - 01h Abstract in rivista

11573/1678459 - 2023 - Long QTc in hypertrophic cardiomyopathy. A consequence of structural myocardial damage or a distinct genetic disease?

Cava, Francesco; Micolonghi, Caterina; Musumeci, Maria Beatrice; Petrucci, Simona; Savio, Camilla; Fabiani, Marco; Tini, Giacomo; Germani, Aldo; Libi, Fabio; Rossi, Carla; Visco, Vincenzo; Pizzuti, Antonio; Volpe, Massimo; Autore, Camillo; Rubattu, Speranza; Piane, Maria - 01a Articolo in rivista

rivista: FRONTIERS IN CARDIOVASCULAR MEDICINE (Lausanne: Frontiers Media S.A., 2014-) pp. 1-4 - issn: 2297-055X - wos: WOS:000970020400001 (2) - scopus: 2-s2.0-85153526285 (2)

11573/1683316 - 2023 - Fetal First-trimester Cystic Hygroma as the Prenatal Presenting Feature of ASCC1-Related Spinal Muscular Atrophy with Bone Fractures 2

Guadagnolo, Daniele; Mastromoro, Gioia; Hashemian, Nader Khaleghi; Orlando, Valeria; Lepri, Francesca Romana; D'alberti, Elena; Giancotti, Antonella; Novelli, Antonio; Pizzuti, Antonio - 01i Case report

rivista: JOURNAL OF OBSTETRICS AND GYNAECOLOGY CANADA (Toronto: Healthcare & Financial Publishing, Rogers Media for the Society of Obstretricians and Gynaecologists of Canada = Société des obstétriciens et gynécologues du Canada.) pp. - - issn: 1701-2163 - wos: WOS:001052354700001 (1) - scopus: 2-s2.0-85163315263 (1)

11573/1687956 - 2023 - Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility

Guadagnolo, Daniele; Mastromoro, Gioia; Marchionni, Enrica; Germani, Aldo; Libi, Fabio; Sadeghi, Soha; Savio, Camilla; Petrucci, Simona; De Marchis, Laura; Piane, Maria; Pizzuti, Antonio - 01i Case report

rivista: BIOMEDICINES (Basel: MDPI) pp. 1-6 - issn: 2227-9059 - wos: WOS:001038003500001 (3) - scopus: 2-s2.0-85175109427 (2)

11573/1697502 - 2023 - Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region

Guadagnolo, Daniele; Mastromoro, Gioia; Torres, Barbara; Marchionni, Enrica; Di Palma, Francesca; Goldoni, Marina; Cocciadiferro, Dario; Novelli, Antonio; Bernardini, Laura; Pizzuti, Antonio - 01a Articolo in rivista

rivista: GENES (Basel : Molecular Diversity Preservation International) pp. - - issn: 2073-4425 - wos: WOS:001132057700001 (0) - scopus: 2-s2.0-85180673237 (0)

11573/1706347 - 2023 - Array-comparative genomic hybridization analysis in a cohort of 130 children with Autism Spectrum Disorders: A single Center Italian Study

Martucci, M; Novelli, M; Scarselli, V; Di Palma, F; Fioriello, F; Bernardini, L; Aceti, F; Giacchetti, N; Sogos, C; Pizzuti, A - 01a Articolo in rivista

rivista: LA CLINICA TERAPEUTICA (Roma : Società editrice Universo) pp. - - issn: 1972-6007 - wos: (0) - scopus: (0)

11573/1669255 - 2023 - A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma—Systematic Review of the Literature, Meta-Analysis and Case Series

Mastromoro, Gioia; Guadagnolo, Daniele; Khaleghi Hashemian, Nader; Bernardini, Laura; Giancotti, Antonella; Piacentini, Gerardo; De Luca, Alessandro; Pizzuti, Antonio - 01a Articolo in rivista

rivista: DIAGNOSTICS (Basel: MDPI) pp. - - issn: 2075-4418 - wos: WOS:000909061800001 (7) - scopus: 2-s2.0-85145834414 (7)

11573/1669248 - 2023 - Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells

Mastromoro, Gioia; Guadagnolo, Daniele; Marchionni, Enrica; Torres, Barbara; Goldoni, Marina; Onori, Annamaria; Bernardini, Laura; De Luca, Alessandro; Torrente, Isabella; Pizzuti, Antonio - 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:000907167600001 (2) - scopus: 2-s2.0-85145589376 (2)

11573/1682972 - 2023 - Prenatal CFAP53-related laterality defect: case report and review of the literature

Mastromoro, Gioia; Guadagnolo, Daniele; Novelli, Antonio; Torres, Barbara; Piane, Maria; Magliozzi, Monia; Bernardini, Laura; Ventriglia, Flavia; Pizzuti, Antonio; Petrucci, Simona - 01g Articolo di rassegna (Review)

rivista: THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE (London : Taylor & Francis, 2002- London : Parthenon Pub. Group.) pp. - - issn: 1476-4954 - wos: WOS:000969108400001 (0) - scopus: 2-s2.0-85152272340 (0)

11573/1675554 - 2023 - A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy

Micolonghi, Caterina; Fabiani, Marco; Pagannone, Erika; Savio, Camilla; Ricci, Marta; Caroselli, Silvia; Gambioli, Vittoria; Musumeci, Maria Beatrice; Germani, Aldo; Tini Melato, Giacomo; Autore, Camillo; Pizzuti, Antonio; Visco, Vincenzo; Rubattu, Speranza Donatella; Petrucci, Simona; Piane, Maria - 01i Case report

rivista: CURRENT ISSUES IN MOLECULAR BIOLOGY (-HORIZON SCIENTIFIC PRESS, PO BOX 1, NORFOLK, WYMONDHAM, ENGLAND, NR18 0JA -Wymondham: Caister Academic.) pp. 2422-2430 - issn: 1467-3045 - wos: WOS:000955690300001 (2) - scopus: 2-s2.0-85151117528 (2)

11573/1686369 - 2023 - The role of genetic testing in suspected fulminant myocarditis: a case report

Mistrulli, Raffaella; Micolonghi, Caterina; Follesa, Federico; Fabiani, Marco; Pagannone, Erika; D'amati, Giulia; Giordano, Carla; Caroselli, Silvia; Savio, Camilla; Germani, Aldo; Pizzuti, Antonio; Visco, Vincenzo; Petrucci, Simona; Rubattu, Speranza; Piane, Maria; Autore, Camillo - 01i Case report

rivista: MOLECULAR GENETICS AND METABOLISM REPORTS (Amsterdam : Elsevier) pp. - - issn: 2214-4269 - wos: WOS:001065774500001 (0) - scopus: 2-s2.0-85168439248 (0)

11573/1682069 - 2023 - Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome

Piceci-Sparascio, Francesca; Micale, Lucia; Torres, Barbara; Guida, Valentina; Consoli, Federica; Torrente, Isabella; Onori, Annamaria; Frustaci, Emanuela; D'asdia, Maria Cecilia; Petrizzelli, Francesco; Bernardini, Laura; Mancini, Cecilia; Soli, Fiorenza; Cocciadiferro, Dario; Guadagnolo, Daniele; Mastromoro, Gioia; Putotto, Carolina; Fontana, Franco; Brunetti-Pierri, Nicola; Novelli, Antonio; Pizzuti, Antonio; Marino, Bruno; Digilio, Maria Cristina; Mazza, Tommaso; Dallapiccola, Bruno; Ruiz-Perez, Victor Luis; Tartaglia, Marco; Castori, 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. 479-484 - issn: 1018-4813 - wos: WOS:000907881800003 (3) - scopus: 2-s2.0-85145605532 (4)

11573/1685519 - 2023 - Additional lesions identified by genomic microarrays are associated with an inferior outcome in low-risk chronic lymphocytic leukaemia patients

Rigolin, Gian Matteo; Traversa, Alice; Caputo, Viviana; Del Giudice, Ilaria; Bardi, Antonella; Saccenti, Elena; Raponi, Sara; Ilari, Caterina; Cafforio, Luciana; Giovannetti, Agnese; Pizzuti, Antonio; Guarini, Anna; Foà, Robin; Cuneo, Antonio - 01a Articolo in rivista

rivista: BRITISH JOURNAL OF HAEMATOLOGY (Oxford]: [Blackwell Science].) pp. - - issn: 1365-2141 - wos: WOS:001019742800001 (2) - scopus: 2-s2.0-85163011556 (2)

11573/1699028 - 2023 - EP01.16: Congenital heart diseases and genetics: a prospective cohort study

Vena, F.; D'aberti, E.; Bartolone, M.; Vasta, A.; Mazza, A.; D'ambrosio, V.; Di Mascio, D.; Pizzuti, A.; Giancotti, A. - 01h Abstract in rivista

11573/1699026 - 2023 - EP10.11: Pitfalls in growth assessment and prenatal surveillance in fetuses with abdominal wall defects

Vena, F.; D'aberti, E.; Vasta, A.; Bartolone, M.; Mazza, A.; D'ambrosio, V.; Di Mascio, D.; Pizzuti, A.; Giancotti, A. - 01h Abstract in rivista

11573/1673271 - 2023 - Echocardiographic features and outcome of restrictive foramen ovale in fetuses with and without cardiac malformations. literature review

Vena, Flaminia; Bartolone, Martina; D'alberti, Elena; Vasta, Adele; Mazza, Alessandra; D'ambrosio, Valentina; Mascio, Daniele Di; Sulce, Blerta; Pajno, Cristina; Brunelli, Roberto; Pizzuti, Antonio; Giancotti, Antonella - 01g Articolo di rassegna (Review)

rivista: JOURNAL OF CLINICAL ULTRASOUND (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. 240-248 - issn: 0091-2751 - wos: WOS:000897550300001 (1) - scopus: 2-s2.0-85143885293 (2)

11573/1690326 - 2023 - Hyperechogenic fetal bowel: Current evidence-based prenatal diagnosis and management

Vena, Flaminia; Mazza, Alessandra; Bartolone, Martina; Vasta, Adele; D'alberti, Elena; Di Mascio, Daniele; D'ambrosio, Valentina; Volpe, Gregorio; Signore, Fabrizio; Pizzuti, Antonio; Giancotti, Antonella - 01g Articolo di rassegna (Review)

rivista: JOURNAL OF CLINICAL ULTRASOUND ([Denver, Colo.] : [Norman House] : Wiley Periodicals, Inc., ©1973-) pp. 1172-1178 - issn: 1097-0096 - wos: WOS:001044201000001 (2) - scopus: 2-s2.0-85166935729 (3)

11573/1649089 - 2022 - Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer

Germani, Aldo; Guadagnolo, Daniele; Salvati, Valentina; Micolonghi, Caterina; Mancini, Rita; Mastromoro, Gioia; Sadeghi, Soha; Petrucci, Simona; Pizzuti, Antonio; Piane, Maria - 01i Case report

rivista: DIAGNOSTICS (Basel: MDPI) pp. 1-13 - issn: 2075-4418 - wos: WOS:000832165800001 (0) - scopus: 2-s2.0-85133166200 (0)

11573/1640953 - 2022 - MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants

Giovannetti, Agnese; Bianco, Salvatore Daniele; Traversa, Alice; Panzironi, Noemi; Bruselles, Alessandro; Lazzari, Sara; Liorni, Niccolò; Tartaglia, Marco; Carella, Massimo; Pizzuti, Antonio; Mazza, Tommaso; Caputo, Viviana - 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. - - issn: 1059-7794 - wos: WOS:000802100300001 (0) - scopus: 2-s2.0-85131158121 (0)

11573/1622047 - 2022 - Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis

Mastromoro, Gioia; Guadagnolo, Daniele; Khaleghi Hashemian, Nader; Marchionni, Enrica; Traversa, Alice; Pizzuti, Antonio - 01a Articolo in rivista

rivista: DIAGNOSTICS (Basel: MDPI) pp. - - issn: 2075-4418 - wos: WOS:000775533800001 (13) - scopus: 2-s2.0-85125635763 (17)

11573/1669968 - 2022 - Critical prenatal diagnosis and management of incidental exon 43-44 deletion in the dystrophin gene

Mastromoro, Gioia; Guadagnolo, Daniele; Marchionni, Enrica; Giancotti, Antonella; Grazia Giuffrida, Maria; Bernardini, Laura; Pizzuti, Antonio - 01a Articolo in rivista

rivista: EUROPEAN JOURNAL OF OBSTETRICS, GYNECOLOGY, AND REPRODUCTIVE BIOLOGY (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 Precedente: Excerpta Medica,Shannon.) pp. - - issn: 0301-2115 - wos: WOS:000831641300001 (0) - scopus: 2-s2.0-85129650683 (0)

11573/1673015 - 2022 - Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis

Mastromoro, Gioia; Khaleghi Hashemian, Nader; Guadagnolo, Daniele; Grazia Giuffrida, Maria; Torres, Barbara; Bernardini, Laura; Ventriglia, Flavia; Piacentini, Gerardo; Pizzuti, Antonio - 01a Articolo in rivista

rivista: DIAGNOSTICS (Basel: MDPI) pp. - - issn: 2075-4418 - wos: WOS:000818247100001 (3) - scopus: 2-s2.0-85131365204 (4)

11573/1669247 - 2022 - Role of ductus venosus agenesis in right ventricle development

Mastromoro, Gioia; Pizzuti, Antonio; Ventriglia, Flavia - 01a Articolo in rivista

rivista: THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE (London: Informa UK Limited trading as Taylor & Francis Group London: Taylor & Francis, 2002- United Kingdom: Parthenon Publishing) pp. - - issn: 1476-7058 - wos: WOS:000562603300001 (1) - scopus: 2-s2.0-85089870530 (1)

11573/1659060 - 2022 - A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome

Micolonghi, Caterina; Piane, Maria; Germani, Aldo; Sadeghi, Soha; Libi, Fabio; Savio, Camilla; Fabiani, Marco; Mancini, Rita; Ranieri, Danilo; Pizzuti, Antonio; Corleto, Vito Domenico; Parisi, Pasquale; Visco, Vincenzo; Di Nardo, Giovanni; Petrucci, Simona - 01i Case report

rivista: DIAGNOSTICS (Basel: MDPI) pp. 1-8 - issn: 2075-4418 - wos: WOS:000880902600001 (4) - scopus: 2-s2.0-85141701474 (4)

11573/1648078 - 2022 - Potassium Channel {KCNH}1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis

Napoli, Giulia; Panzironi, Noemi; Traversa, Alice; Catalanotto, Caterina; Pace, Valentina; Petrizzelli, Francesco; Giovannetti, Agnese; Lazzari, Sara; Cogoni, Carlo; Tartaglia, Marco; Carella, Massimo; Mazza, Tommaso; Pizzuti, Antonio; Parisi, Chiara; Caputo, Viviana - 01a Articolo in rivista

rivista: MOLECULAR NEUROBIOLOGY (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. - - issn: 0893-7648 - wos: WOS:000803858300001 (3) - scopus: 2-s2.0-85131184441 (3)

11573/1617409 - 2022 - Myoclonic epilepsy. case report of a mild phenotype in a pediatric patient expanding clinical spectrum of kcna2 pathogenic variants

Perilli, L.; Mastromoro, G.; Murciano, M.; Amedeo, I.; Avenoso, F.; Pizzuti, A.; Guido, C. A.; Spalice, A. - 01i Case report

rivista: FRONTIERS IN NEUROLOGY (Lausanne: Frontiers Research Foundation, 2010-) pp. 1-7 - issn: 1664-2295 - wos: WOS:000756059400001 (1) - scopus: 2-s2.0-85124744089 (1)

11573/1631638 - 2022 - A novel c.952T>C mutation in Notch3 gene in a patient with chronic non-migraine-like headache. Expanding the genotypic spectrum of CADASIL?

Scala, Irene; Piane, Maria; Frisullo, Giovanni; Marotta, Jessica; Bellavia, Simone; Andrea Rizzo, Pier; Rollo, Eleonora; Vollono, Catello; Pizzuti, Antonio; Brunetti, Valerio; Della Marca, Giacomo - 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. 1-2 - issn: 0009-9163 - wos: WOS:000780379300001 (0) - scopus: 2-s2.0-85127942158 (0)

11573/1673269 - 2022 - OC01.09: Prenatal diagnosis of restrictive fetal foramen ovale: a systematic review

Vena, F.; Bartolone, M.; D'aberti, E.; Vasta, A.; Mazza, A.; Di Mascio, D.; Pizzuti, A.; D'ambrosio, V.; Giancotti, A. - 01h Abstract in rivista

11573/1560524 - 2022 - Risk of neural tube defects according to maternal body mass index: a systematic review and meta-analysis

Vena, Flaminia; D'ambrosio, Valentina; Paladini, Vanessa; Saluzzi, Enrica; Di Mascio, Daniele; Boccherini, Chiara; Spiniello, Lorenzo; Mondo, Alessandro; Pizzuti, Antonio; Giancotti, Antonella - 01g Articolo di rassegna (Review)

rivista: THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE (London : Taylor & Francis, 2002- London : Parthenon Pub. Group.) pp. - - issn: 1476-4954 - wos: WOS:000669824500001 (12) - scopus: 2-s2.0-85109699716 (14)

11573/1662051 - 2022 - Neuroimaging and cerebrovascular changes in fetuses with complex congenital heart disease

Vena, Flaminia; Manganaro, Lucia; D'ambrosio, Valentina; Masciullo, Luisa; Ventriglia, Flavia; Ercolani, Giada; Bertolini, Camilla; Catalano, Carlo; Di Mascio, Daniele; D'alberti, Elena; Signore, Fabrizio; Pizzuti, Antonio; Giancotti, Antonella - 01a Articolo in rivista

rivista: JOURNAL OF CLINICAL MEDICINE (MDPI Publishing, Basel, Switzerland) pp. 6740- - issn: 2077-0383 - wos: WOS:000887366000001 (6) - scopus: 2-s2.0-85142659251 (5)

11573/1572843 - 2021 - An observational study to assess Italian obstetrics providers' knowledge about preventive practices and diagnosis of congenital cytomegalovirus

Boccherini, C.; D'ambrosio, V.; Corno, S.; Vena, F.; Pajno, C.; Piccioni, M. G.; Rech, F.; Ciolli, P.; Brunelli, R.; Benedetti Panici, P.; Pizzuti, A.; Muzii, L.; Giancotti, A. - 01a Articolo in rivista

rivista: JOURNAL OF PERINATAL MEDICINE (Walter de Gruyter and Company:Genthinerstrasse 13, D 10785 Berlin Germany:011 49 30 260050, EMAIL: customerservice@deguyter.de, INTERNET: http://www.degruyter.de/, Fax: 011 49 30 26005338) pp. 67-72 - issn: 0300-5577 - wos: WOS:000597289500011 (2) - scopus: 2-s2.0-85091151507 (2)

11573/1493515 - 2021 - GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations

Genovesi, M. L.; Guadagnolo, D.; Marchionni, E.; Giovannetti, A.; Traversa, A.; Panzironi, N.; Bernardo, S.; Palumbo, P.; Petrizzelli, F.; Carella, M.; Mazza, T.; Pizzuti, A.; Caputo, V. - 01a Articolo in rivista

rivista: BONE (New York: Pergamon Press, c1985-) pp. - - issn: 8756-3282 - wos: WOS:000615746400001 (8) - scopus: 2-s2.0-85099259643 (9)

11573/1496141 - 2021 - Prenatal exome sequencing: background, current practice and future perspectives - A systematic review

Guadagnolo, Daniele; Mastromoro, Gioia; Di Palma, Francesca; Pizzuti, Antonio; Marchionni, Enrica - 01g Articolo di rassegna (Review)

rivista: DIAGNOSTICS (Basel: MDPI) pp. - - issn: 2075-4418 - wos: WOS:000622430100001 (20) - scopus: 2-s2.0-85114358764 (22)

11573/1571044 - 2021 - Genotype-Phenotype Correlations in Monogenic Parkinson Disease. A Review on Clinical and Molecular Findings

Guadagnolo, Daniele; Piane, Maria; Torrisi, Maria Rosaria; Pizzuti, Antonio; Petrucci, Simona - 01g Articolo di rassegna (Review)

rivista: FRONTIERS IN NEUROLOGY (Lausanne: Frontiers Research Foundation, 2010-) pp. 1-17 - issn: 1664-2295 - wos: WOS:000703993000001 (39) - scopus: 2-s2.0-85116448186 (35)

11573/1496110 - 2021 - Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy

Marchionni, Enrica; Agolini, Emanuele; Mastromoro, Gioia; Guadagnolo, Daniele; Coppola, Giulia; Roggini, Mario; Riminucci, Mara; Novelli, Antonio; Giancotti, Antonella; Corsi, Alessandro; Pizzuti, Antonio - 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. 1509-1514 - issn: 1552-4825 - wos: WOS:000615102100001 (2) - scopus: 2-s2.0-85100536934 (2)

11573/1704480 - 2021 - Una bambina con encefalopatia epilettica e dello sviluppo: un ruolo patogenetico per il gene PRMT8?

Mastrangelo, Mario; Greco, Carlo; Boiani, Arianna; Pizzuti, Antonio; Leuzzi, Vincenzo - 04d Abstract in atti di convegno

congresso: Lega Italiana Contro l’Epilessia – Riunione Policentrica in Epilettologia 2021 (Roma)

libro: Lega Italiana Contro l’Epilessia – Riunione Policentrica in Epilettologia 2021 - ()

11573/1619691 - 2021 - External hydrocephalus as a prenatal feature of Noonan Syndrome

Mastromoro, G.; De Luca, A.; Marchionni, E.; Spagnuolo, A.; Ventriglia, F.; Manganaro, L.; Pizzuti, A. - 01i Case report

rivista: ANNALS OF HUMAN GENETICS (-MALDEN, USA: WILEY-BLACKWELL PUBLISHING, INC -Cambridge, United Kingdom: Cambridge University Press) pp. 249-252 - issn: 0003-4800 - wos: WOS:000656807500001 (6) - scopus: 2-s2.0-85107371105 (6)

11573/1496224 - 2021 - Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings

Mastromoro, Gioia; Guadagnolo, Daniele; Giancotti, Antonella; Grazia Di Gregorio, Maria; Marchionni, Enrica; Vena, Flaminia; Romana Lepri, Francesca; Bargiacchi, Lavinia; Ventriglia, Flavia; Di Gioia, Cira Rosaria Tiziana; Novelli, Antonio; Pizzuti, Antonio - 01a Articolo in rivista

rivista: EUROPEAN JOURNAL OF MEDICAL GENETICS (AMSTERDAM, NETHERLANDS,: ELSEVIER SCIENCE BV) pp. - - issn: 1769-7212 - wos: WOS:000612309700015 (6) - scopus: 2-s2.0-85096969585 (8)

11573/1669246 - 2021 - Incidental SOS1 variant identified by non-invasive prenatal screening. Prenatal diagnosis and family clinical reassessment

Mastromoro, Gioia; Guadagnolo, Daniele; Marchionni, Enrica; Di Palma, Francesca; Gigante, Laura; Versacci, Paolo; Ventriglia, Flavia; Baldi, Marina; Pizzuti, Antonio - 01a Articolo in rivista

rivista: EUROPEAN JOURNAL OF OBSTETRICS, GYNECOLOGY, AND REPRODUCTIVE BIOLOGY (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 Precedente: Excerpta Medica,Shannon.) pp. 518-520 - issn: 0301-2115 - wos: WOS:000604431000086 (1) - scopus: 2-s2.0-85097446682 (1)

11573/1420262 - 2021 - Neonatal Marfan Syndrome by Inherited Mutation

Mastromoro, Gioia; Guida, Valentina; Cellitti, Raffaella; Cardilli, Viviana; De Luca, Alessandro; Pizzuti, Antonio; Versacci, Paolo - 01a Articolo in rivista

rivista: INDIAN JOURNAL OF PEDIATRICS (New Delhi,India: Serials Subscription Service India New Delhi: All India Institute of Medical Sciences, Department of Pediatrics.) pp. - - issn: 0019-5456 - wos: WOS:000541085000004 (1) - scopus: 2-s2.0-85086740231 (1)

11573/1540377 - 2021 - OTX015 epi‐drug exerts antitumor effects in ovarian cancer cells by blocking GNL3‐mediated radioresistance mechanisms: cellular, molecular and computational evidence

Megiorni, F.; Camero, S.; Pontecorvi, P.; Camicia, L.; Marampon, F.; Ceccarelli, S.; Anastasiadou, E.; Bernabo, N.; Perniola, G.; Pizzuti, A.; Panici, P. B.; Tombolini, V.; Marchese, C. - 01a Articolo in rivista

rivista: CANCERS (Basel: MDPI) pp. - - issn: 2072-6694 - wos: WOS:000638336900001 (9) - scopus: 2-s2.0-85102932207 (10)

11573/1496135 - 2021 - X-linked dominant RPGR gene mutation in a familial Coats angiomatosis

Nebbioso, M.; Franzone, F.; Lambiase, A.; La Cava, M.; Mallone, F.; Pizzuti, A.; Marchionni, E. - 01i Case report

rivista: BMC OPHTHALMOLOGY (BIOMED CENTRAL LTD, MIDDLESEX HOUSE, 34-42 CLEVELAND ST, LONDON, ENGLAND, W1T 4LB) pp. - - issn: 1471-2415 - wos: WOS:000609520400001 (2) - scopus: 2-s2.0-85099346156 (2)

11573/1530502 - 2021 - miR‑125b/NRF2/HO‑1 axis is involved in protection against oxidative stress of cystic fibrosis: a pilot study

Pelullo, Maria; Savi, Daniela; Quattrucci, Serena; Cimino, Giuseppe; Pizzuti, Antonio; Screpanti, Isabella; Talora, Claudio; Cialfi, Samantha - 01a Articolo in rivista

rivista: EXPERIMENTAL AND THERAPEUTIC MEDICINE (Athens: Spandidos Publications) pp. 1-6 - issn: 1792-0981 - wos: WOS:000638205900001 (7) - scopus: (0)

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 (13) - scopus: 2-s2.0-85099215590 (12)

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 (5) - scopus: 2-s2.0-85107183887 (5)

11573/1645427 - 2021 - When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort

Scott, A.; Di Giosaffatte, N.; Pinna, V.; Daniele, P.; Corno, S.; D'ambrosio, V.; Andreucci, E.; Marozza, A.; Sirchia, F.; Tortora, G.; Mangiameli, D.; Di Marco, C.; Romagnoli, M.; Donati, I.; Zonta, A.; Grosso, E.; Naretto, V. G.; Mastromoro, G.; Versacci, P.; Pantaleoni, F.; Radio, F. C.; Mazza, T.; Damante, G.; Papi, L.; Mattina, T.; Giancotti, A.; Pizzuti, A.; Laberge, A. -M.; Tartaglia, M.; Delrue, M. -A.; De Luca, A. - 01a Articolo in rivista

rivista: GENETICS IN MEDICINE (New York: Elsevier Baltimore MD: Williams & Wilkins) pp. 1116-1124 - issn: 1098-3600 - wos: WOS:000616885000001 (23) - scopus: 2-s2.0-85100976858 (24)

11573/1421953 - 2021 - Susceptibility to ischaemic heart disease. Focusing on genetic variants for ATP-sensitive potassium channel beyond traditional risk factors

Severino, P.; D'amato, A.; Netti, L.; Pucci, M.; Mariani, M. V.; Cimino, S.; Birtolo, L. I.; Infusino, F.; De Orchi, P.; Palmirotta, R.; Lovero, D.; Silvestris, F.; Caputo, V.; Pizzuti, A.; Miraldi, F.; Maestrini, V.; Mancone, M.; Fedele, F. - 01a Articolo in rivista

rivista: EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY (Oxford: Oxford University Press London: SAGE PUBLICATIONS LTD,) pp. 1-7 - issn: 2047-4873 - wos: WOS:000537489200001 (21) - scopus: 2-s2.0-85085877052 (24)

11573/1622624 - 2021 - Fetal dacryocystocele: a pitfall in the third-trimester prenatal diagnosis of cleft lip

Vena, F.; Manganaro, L.; Pizzuti, A.; Corno, S.; Piccioni, M. G.; D'ambrosio, V.; Giancotti, A. - 01f Lettera, Nota

rivista: JOURNAL OF CLINICAL ULTRASOUND (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. 777-778 - issn: 0091-2751 - wos: WOS:000655361400001 (0) - scopus: 2-s2.0-85106741042 (0)

11573/1447048 - 2021 - Pregnant women's knowledge and behaviour to prevent cytomegalovirus infection: an observational study

Vena, Flaminia; D'ambrosio, Valentina; Pajno, Cristina; Boccherini, Chiara; Corno, Sara; Di Mascio, Daniele; Piccioni, Maria Grazia; Salerno, Maria Giovanna; Bisogni, Francesco; Brunelli, Roberto; Muzii, Ludovico; Panici, Pierluigi Benedetti; Pizzuti, Antonio; Giancotti, Antonella - 01a Articolo in rivista

rivista: JOURNAL OF PERINATAL MEDICINE (Berlin: de Gruyter.) pp. 327-332 - issn: 1619-3997 - wos: WOS:000626597700009 (9) - scopus: 2-s2.0-85094956936 (9)

11573/1386797 - 2020 - BET inhibition therapy counteracts cancer cell survival, clonogenic potential and radioresistance mechanisms in rhabdomyosarcoma cells

Camero, S.; Camicia, L.; Marampon, F.; Ceccarelli, S.; Shukla, R.; Mannarino, O.; Pizer, B.; Schiavetti, A.; Pizzuti, A.; Tombolini, V.; Marchese, C.; Dominici, C.; Megiorni, F. - 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. 71-88 - issn: 0304-3835 - wos: WOS:000525868700008 (17) - scopus: 2-s2.0-85082442795 (17)

11573/1442909 - 2020 - Obstetrical and perinatal outcomes in fetuses with early versus late sonographic diagnosis of short femur length: a single-center, prospective, cohort study

D'ambrosio, V.; Vena, F.; Boccherini, C.; Di Mascio, D.; Squarcella, A.; Corno, S.; Pajno, C.; Pizzuti, A.; Piccioni, M. G.; Brunelli, R.; Giancotti, A. - 01a Articolo in rivista

rivista: EUROPEAN JOURNAL OF OBSTETRICS, GYNECOLOGY, AND REPRODUCTIVE BIOLOGY (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 Precedente: Excerpta Medica,Shannon.) pp. 170-174 - issn: 0301-2115 - wos: WOS:000582243700030 (2) - scopus: 2-s2.0-85091593175 (3)

11573/1352374 - 2020 - Fetal tongue posture associated with micrognathia: An ultrasound marker of cleft secondary palate?

D'ambrosio, V.; Vena, F.; Manganaro, L.; Cascone, P.; Boccherini, C.; Piccioni, M. G.; Pizzuti, A.; Benedetti Panici, P.; Giancotti, A. - 01i Case report

rivista: JOURNAL OF CLINICAL ULTRASOUND (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. 48-51 - issn: 0091-2751 - wos: WOS:000494110400001 (3) - scopus: 2-s2.0-85076333079 (5)

11573/1582608 - 2020 - Uniparental disomy of chromosome 16: a case report with a new cardiac malformation Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters

Di Palma, F.; Goldoni, M.; Marchionni, E.; Caravale, B.; Mondovì, M. T.; Mastromoro, G.; Guadagnolo, D.; Versacci, P.; D'ambrosio, V.; Giancotti, A.; Bernardini, L.; Pizzuti, A. - 04c Atto di convegno in rivista

rivista: EUROPEAN JOURNAL OF HUMAN GENETICS (First or current publisher Basel ; New York : Karger, [1992]- Intervening publisher [Houndmills, Basingstoke, Hampshire, UK] : Stockton Press Intervening publisher [London?] : MacMillan Publishers Ltd. Current or last publisher [London] : Nature Publishing Group) pp. 798-1016 - issn: 1476-5438 - wos: (0) - scopus: 2-s2.0-85097036351 (4)

congresso: 53rd European Society of Human Genetics (ESHG) (Virtual Conference)

11573/1462070 - 2020 - Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome

Fanella, M.; Frascarelli, M.; Lambiase, C.; Morano, A.; Unolt, M.; Liberati, N.; Fattouch, J.; Buzzanca, A.; Accinni, T.; Ceccanti, Marco; Vigano, Alessandro; Biondi, M.; Colonnese, C.; Giallonardo, A. T.; Di Fabio, Fabio; Pizzuti, A.; Di Bonaventura, C.; Berardelli, A. - 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. 151-159-159 - issn: 0022-2593 - wos: WOS:000518193900002 (11) - scopus: 2-s2.0-85072190295 (12)

11573/1442555 - 2020 - Beyond BRCA1 and BRCA2: deleterious variants in DNA repair pathway genes in italian families with breast/ovarian and pancreatic cancers

Germani, Aldo; Petrucci, Simona; De Marchis, Laura; Libi, Fabio; Savio, Camilla; Amanti, Claudio; Bonifacino, Adriana; Campanella, Barbara; Capalbo, Carlo; Lombardi, Augusto; Maggi, Stefano; Mattei, Mauro; Osti, Mattia Falchetto; Pellegrini, Patrizia; Speranza, Annarita; Stanzani, Gianluca; Vitale, Valeria; Pizzuti, Antonio; Torrisi, Maria Rosaria; Piane, Maria - 01a Articolo in rivista

rivista: JOURNAL OF CLINICAL MEDICINE (MDPI Publishing, Basel, Switzerland) pp. - - issn: 2077-0383 - wos: WOS:000581319600001 (7) - scopus: 2-s2.0-85114281545 (8)

11573/1398547 - 2020 - A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1

Giuffrida, M. G.; Mastromoro, G.; Guida, V.; Truglio, M.; Fabbretti, M.; Torres, B.; Mazza, T.; De Luca, A.; Roggini, M.; Bernardini, L.; Pizzuti, A. - 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. 508-512 - issn: 1552-4825 - wos: WOS:000512942100015 (11) - scopus: 2-s2.0-85077363294 (11)

11573/1390866 - 2020 - Tlr4 t399i polymorphism and endometriosis in a cohort of italian women

Marchionni, Enrica; Porpora, Maria Grazia; Megiorni, Francesca; Piacenti, Ilaria; Giovannetti, Agnese; Marchese, Cinzia; Benedetti Panici, Pierluigi; Pizzuti, Antonio - 01a Articolo in rivista

rivista: DIAGNOSTICS (Basel: MDPI) pp. 1-11 - issn: 2075-4418 - wos: WOS:000541022500080 (7) - scopus: 2-s2.0-85084306696 (6)

11573/1421957 - 2020 - Small 7p22.3 microdeletion: case report of Snx8 haploinsufficiency and neurological findings

Mastromoro, G.; Capalbo, A.; Guido, C. A.; Torres, B.; Fabbretti, M.; Traversa, A.; Giancotti, A.; Ventriglia, F.; Bernardini, L.; Spalice, A.; Pizzuti, A. - 01a Articolo in rivista

rivista: EUROPEAN JOURNAL OF MEDICAL GENETICS (AMSTERDAM, NETHERLANDS,: ELSEVIER SCIENCE BV) pp. 103772- - issn: 1769-7212 - wos: WOS:000522728900053 (7) - scopus: 2-s2.0-85072785130 (7)

11573/1413909 - 2020 - Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance

Traversa, Alice; Marchionni, Enrica; Giovannetti, Agnese; Genovesi, Maria L; Panzironi, Noemi; Margiotti, Katia; Napoli, Giulia; Piceci Sparascio, Francesca; De Luca, Alessandro; Petrizzelli, Francesco; Carella, Massimo; Cardona, Francesco; Bernardo, Silvia; Manganaro, Lucia; Mazza, Tommaso; Pizzuti, Antonio; Caputo, Viviana - 01a Articolo in rivista

rivista: MOLECULAR GENETICS & GENOMIC MEDICINE ([Hoboken, NJ] : John Wiley & Sons, [2013]-) pp. e1336- - issn: 2324-9269 - wos: WOS:000539082200001 (3) - scopus: 2-s2.0-85086178317 (3)

11573/1178179 - 2019 - PARP inhibitors affect growth, survival and radiation susceptibility of human alveolar and embryonal rhabdomyosarcoma cell lines

Camero, S; Ceccarelli, S; De Felice, F; Marampon, Francesco; Mannarino, O; Camicia, L; Vescarelli, E; Pontecorvi, P; Pizer, B; Shukla, R; Schiavetti, A; Mollace, Mg; Pizzuti, Antonio; Tombolini, V; Marchese, C; Megiorni, F; Dominici, C - 01a Articolo in rivista

rivista: JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY (Heidelberg ; Berlin : Springer.) pp. 137-152 - issn: 0171-5216 - wos: WOS:000455259500013 (26) - scopus: 2-s2.0-85055757056 (30)

11573/1405448 - 2019 - Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease

Mastromoro, Gioia; Gambardella, Stefano; Marchionni, Enrica; Campopiano, Rosa; Traversa, Alice; Di Bonaventura, Carlo; Pizzuti, Antonio - 01a Articolo in rivista

rivista: NEURODEGENERATIVE DISEASES (Basel [etc.]: S. Karger 2004-) pp. - - issn: 1660-2854 - wos: WOS:000503252600005 (2) - scopus: 2-s2.0-85073114749 (2)

11573/1278927 - 2019 - Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

Motta, Marialetizia; Giancotti, Antonella; Mastromoro, Gioia; Chandramouli, Balasubramanian; Pinna, Valentina; Pantaleoni, Francesca; Di Giosaffatte, Niccolo'; Petrini, Stefania; Mazza, Tommaso; D'ambrosio, Valentina; Versacci, Paolo; Ventriglia, Flavia; Chillemi, Giovanni; Pizzuti, Antonio; Tartaglia, Marco; De Luca, Alessandro - 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. 1-11 - issn: 1059-7794 - wos: WOS:000480595600006 (16) - scopus: 2-s2.0-85070601884 (16)

11573/1421955 - 2019 - Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants

Nicita, F.; Stregapede, F.; Tessa, A.; Bassi, M. T.; Jezela-Stanek, A.; Primiano, G.; Pizzuti, A.; Barghigiani, M.; Nardella, M.; Zanni, G.; Servidei, S.; Astrea, G.; Panzeri, E.; Maghini, C.; Losito, L.; Ploski, R.; Gasperowicz, P.; Santorelli, F. M.; Bertini, E.; Travaglini, L. - 01a Articolo in rivista

rivista: JOURNAL OF NEUROLOGY (Heidelberg Germany: Springer Verlag) pp. 2657-2664 - issn: 0340-5354 - wos: WOS:000491432100006 (11) - scopus: 2-s2.0-85068963136 (13)

11573/1349570 - 2019 - Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation.

Traversa, A; Bernardo, S; Paiardini, A; Giovannetti, A; Marchionni, E; Genovesi, Ml; Guadagnolo, D; Torres, B; Paolacci, S; Bernardini, L; Mazza, T; Carella, M; Caputo, V; Pizzuti, A - 01a Articolo in rivista

rivista: MOLECULAR GENETICS & GENOMIC MEDICINE ([Hoboken, NJ] : John Wiley & Sons, [2013]-) pp. - - issn: 2324-9269 - wos: WOS:000497878100001 (5) - scopus: 2-s2.0-85075459805 (5)

11573/1108825 - 2018 - Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies

Barbato, Ersilia; Traversa, Alice; Guarnieri, Rosanna; Giovannetti, Agnese; Genovesi, Maria Luce; Magliozzi, Maria Rosa; Paolacci, Stefano; Ciolfi, Andrea; Pizzi, Simone; Di Giorgio, Roberto; Tartaglia, Marco; Pizzuti, Antonio; Caputo, Viviana - 01a Articolo in rivista

rivista: ARCHIVES OF ORAL BIOLOGY (Elsevier Science Limited:Oxford Fulfillment Center, PO Box 800, Kidlington Oxford OX5 1DX United Kingdom:011 44 1865 843000, 011 44 1865 843699, EMAIL: asianfo@elsevier.com, tcb@elsevier.co.UK, INTERNET: http://www.elsevier.com, http://www.elsevier.com/locate/shpsa/, Fax: 011 44 1865 843010) pp. 96-102 - issn: 0003-9969 - wos: WOS:000432768400012 (9) - scopus: 2-s2.0-85046169366 (9)

11573/1178193 - 2018 - Medicina eugenica e Shoah. Ricordare il male e promuovere la bioetica

Betta, Emmanuel; Cassata, Francesco; Cilione, Marco; Corbellini, Gilberto; Cutrera, Silvia; Di Nepi, Serena; Di Palma, Francesca; Gaj, Fabio; Garofalo, Damiano; Gazzaniga, Valentina; Gentiloni Silveri, Umberto; Marchionni, Enrica; Marinozzi, Silvia; Ottolenghi, Livia; Picchianti, Libera; Pizzuti, Antonio - 02a Capitolo o Articolo

libro: medicina eugenica e shoah - (9788893770361)

11573/1178182 - 2018 - Update in non invasive prenatal testing

D'ambrosio, V; Squarcella, A; Vena, F; Di Mascio, D; Corno, S; Pajno, C; Piccioni, Mg; Brunelli, R; Pizzuti, A; Benedetti Panici, P; Giancotti, A. - 01a Articolo in rivista

rivista: MINERVA GINECOLOGICA (Torino: Edizioni Minerva Medica) pp. - - issn: 1827-1650 - wos: WOS:000461785500006 (7) - scopus: 2-s2.0-85061855538 (11)

11573/1178184 - 2018 - Mid-trimester isolated short femur and perinatal outcomes: a systematic review and meta-analysis

D'ambrosio, V; Vena, F; Marchetti, C; Di Mascio, D; Perrone, S; Boccherini, C; Pizzuti, A; Benedetti Panici, P; Giancotti, A - 01a Articolo in rivista

rivista: ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA (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: 0001-6349 - wos: WOS:000453833400003 (20) - scopus: 2-s2.0-85055627561 (26)

11573/1178195 - 2018 - Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline

Germani, A; Libi, F; Maggi, S; Stanzani., G; Lombardi, A; Pellegrini, P; Mattei, M; De Marchis, L; Amanti, C; Pizzuti, A; Torrisi, Mr; Piane, M - 01a Articolo in rivista

rivista: ONCOTARGET (Albany, N.Y. : Impact Journals) pp. 33648-33655 - issn: 1949-2553 - wos: (0) - scopus: 2-s2.0-85053328134 (11)

11573/1178190 - 2018 - HLA-DQB1∗0201 phenotype and severe primary RhD immunization

Giancotti, A; Pizzuti, A; D'ambrosio, A; De Filippis, A; Vena, F; Piccioni, M; D'amelio, R; Brunelli, R - 01a Articolo in rivista

rivista: CLINICAL AND EXPERIMENTAL OBSTETRICS & GYNECOLOGY (Singapore: IMR Press Montreal: IROG Canada Montreal: S.O.G. Canada) pp. 549-551 - issn: 0390-6663 - wos: WOS:000444384300012 (0) - scopus: 2-s2.0-85052582360 (0)

11573/1178187 - 2018 - Androgen insensitivity syndrome

Gulía, C; Baldassarra, S; Zangari, A; Briganti, Valerio; Gigli, S; Gaffi, M; Signore, F; Vallone, C; Nucciotti, R; Costantini, Fm; Pizzuti, A; Bernardo, S; Porrello, Antonino; Piergentili, R - 01a Articolo in rivista

rivista: EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES (Roma: Verduci publisher) pp. 3873-3887- - issn: 2284-0729 - wos: WOS:000437779900032 (20) - scopus: 2-s2.0-85051134798 (27)

11573/1135630 - 2018 - Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test

Tolve, Manuela; Artiola, Cristiana; Pasquali, Amelia; Giovanniello, Teresa; D'amici, Sirio; Angeloni, Antonio; Pizzuti, Antonio; Carducci, Claudia; Leuzzi, Vincenzo; Carducci, Carla - 01a Articolo in rivista

rivista: METHODS AND PROTOCOLS (Basel: MDPI) pp. 1-12 - issn: 2409-9279 - wos: WOS:000698974700007 (3) - scopus: 2-s2.0-85089846377 (5)

11573/1096598 - 2017 - MRI and US in the evaluation of fetal anomalies: the need to work together

Bernardo, S.; Giancotti, A.; Antonelli, A.; Rizzo, G.; Vinci, V.; Pizzuti, A.; Catalano, C.; Manganaro, L. - 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. 1343-1349 - issn: 0197-3851 - wos: WOS:000418941300010 (7) - scopus: 2-s2.0-85039774076 (8)

11573/935197 - 2017 - Unusual Association of Scn2a Epileptic Encephalopathy with Severe Cortical Dysplasia Detected by Prenatal Mri

Bernardo, Silvia; Marchionni, Enrica; Prudente, Sabrina; De Liso, Paola; Spalice, Alberto; Giancotti, Antonella; Manganaro, Lucia; Pizzuti, Antonio - 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. - - issn: 1090-3798 - wos: WOS:000401209200024 (11) - scopus: 2-s2.0-85013117533 (10)

11573/907214 - 2017 - Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis

Giancotti, Antonella; D'ambrosio, Valentina; Marchionni, Enrica; Squarcella, Antonia; Aliberti, Camilla; La Torre, Renato; Manganaro, Lucia; Pizzuti, Antonio - 01a Articolo in rivista

rivista: THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE (London : Taylor & Francis, 2002- London : Parthenon Pub. Group.) pp. 2225-2231 - issn: 1476-4954 - wos: WOS:000405217100015 (12) - scopus: 2-s2.0-85021696425 (20)

11573/958193 - 2017 - Role of fetal MRI in the evaluation of isolated and non-isolated corpus callosum dysgenesis: results of a cross-sectional study

Manganaro, Lucia; Bernardo, Silvia; De Vito, Corrado; Antonelli, Amanda; Marchionni, Enrica; Vinci, Valeria; Saldari, Matteo; Di Meglio, L; Giancotti, Antonella; Silvestri, E; Catalano, Carlo; Pizzuti, Antonio - 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. 244-252 - issn: 0197-3851 - wos: WOS:000398126500006 (18) - scopus: 2-s2.0-85013345373 (24)

11573/958192 - 2017 - Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients

Margiotti, K; Pascolini, Giulia; Consoli, Federica; Guida, Valentina; Di Bonaventura, Carlo; Giallonardo, Anna Teresa; Pizzuti, Antonio; De Luca, Alessandro - 01a Articolo in rivista

rivista: ARCHIVES OF ORAL BIOLOGY (Elsevier Science Limited:Oxford Fulfillment Center, PO Box 800, Kidlington Oxford OX5 1DX United Kingdom:011 44 1865 843000, 011 44 1865 843699, EMAIL: asianfo@elsevier.com, tcb@elsevier.co.UK, INTERNET: http://www.elsevier.com, http://www.elsevier.com/locate/shpsa/, Fax: 011 44 1865 843010) pp. 160-163 - issn: 0003-9969 - wos: WOS:000403729500022 (2) - scopus: 2-s2.0-85018504991 (2)

11573/1122483 - 2017 - Oral health in two heterozygote female twins with congenital lactic acidosis

Mazur, Marta Danuta; Guerra, Fabrizio; Ndokaj, Artnora; Pizzuti, Antonio; Ottolenghi, Livia - 01a Articolo in rivista

rivista: SENSES & SCIENCES (Roma: [s. n.]) pp. 395-399 - issn: 2284-2489 - wos: (0) - scopus: (0)

11573/981021 - 2017 - A sketch of known and novel MYCN-associated miRNA networks in neuroblastoma

Megiorni, Francesca; Colaiacovo, Moreno; Cialfi, Samantha; Mcdowell, Heather P; Guffanti, Alessandro; Camero, Simona; Felsani, Armando; Losty, Paul D; Pizer, Barry; Shukla, Rajeev; Cappelli, Carlo; Ferrara, Eva; Pizzuti, Antonio; Moles, Anna; Dominici, Carlo - 01a Articolo in rivista

rivista: ONCOLOGY REPORTS (Editore attuale: PROFESSOR D A SPANDIDOS, 1, S MERKOURI ST, EDITORIAL OFFICE,, ATHENS, GREECE, 116 35 PRECEDENTE: National Hellenic Research Foundation:48 Vas Constatinou Avenue, Athens 11635 Greece:011 30 1 7241505, Fax: 011 30 1 7241505) pp. 3-20 - issn: 1021-335X - wos: WOS:000404089500001 (17) - scopus: 2-s2.0-85020760577 (21)

11573/1013483 - 2017 - Pharmacological targeting of the ephrin receptor kinase signalling by GLPG1790 in vitro and in vivo reverts oncophenotype, induces myogenic differentiation and radiosensitizes embryonal rhabdomyosarcoma cells

Megiorni, Francesca; Gravina, Giovanni Luca; Camero, Simona; Ceccarelli, Simona; Del Fattore, Andrea; Desiderio, Vincenzo; Papaccio, Federica; Mcdowell, Heather P; Shukla, Rajeev; Pizzuti, Antonio; Beirinckx, Filip; Pujuguet, Philippe; Saniere, Laurent; Der Aar, Ellen Van; Maggio, Roberto; De Felice, Francesca; Marchese, Cinzia; Dominici, Carlo; Tombolini, Vincenzo; Festuccia, Claudio; Marampon, Francesco - 01a Articolo in rivista

rivista: JOURNAL OF HEMATOLOGY & ONCOLOGY (London : BioMed Central) pp. - - issn: 1756-8722 - wos: WOS:000412472200001 (32) - scopus: 2-s2.0-85030716747 (32)

11573/958195 - 2017 - An update on the metabolic syndrome's epigenomic risk

Perricone, Rosa Anna; Pizzuti, Antonio - 01a Articolo in rivista

rivista: MINERVA ENDOCRINOLOGICA (Torino: Minerva Medica) pp. - - issn: 0391-1977 - wos: WOS:000412747200009 (0) - scopus: 2-s2.0-85029672008 (0)

11573/927402 - 2016 - Recessive inactivating mutations in TBCK, a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathy

Caputo, Viviana; Chong, Jx; Phelps, Ig; Stella, L; Worgan, L; Dempsey, Jc; Nguyen, A; Paolacci, Stefano; Leuzzi, V; Webster, R; Pizzuti, Antonio; Marvin, Ct; Ishak, Ge; Ardern Holmes, S; Richmond, Z; University Of Washington Center For Mendelian, Genomics; Bamshad, Mj; Ortiz Gonzalez, Xr; Tartaglia, M; Chopra, M; Doherty, D. - 04f Poster

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)

11573/954875 - 2016 - Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

Chong, Jessica X.; Caputo, Viviana; Phelps, Ian G.; Stella, Lorenzo; Worgan, Lisa; Dempsey, Jennifer C.; Nguyen, Alina; Leuzzi, Vincenzo; Webster, Richard; Pizzuti, Antonio; Marvin, Colby T.; Ishak, Gisele E.; Ardern Holmes, Simone; Richmond, Zara; Bamshad, Michael J.; Ortiz Gonzalez, Xilma R.; Tartaglia, Marco; Chopra, Maya; Doherty, Dan - 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. 772-781 - issn: 0002-9297 - wos: WOS:000374203800015 (34) - scopus: 2-s2.0-84962045269 (35)

11573/856698 - 2016 - Prenatal diagnosis of proximal focal femoral deficiency: Literature review of prenatal sonographic findings

D'ambrosio, Valentina; Pasquali, Gaia; Squarcella, Antonia; Marcoccia, Eleonora; Filippis, Angela De; Gatto, Silvia; Aliberti, Camilla; Pizzuti, Antonio; Torre, Renato La; Giancotti, Antonella - 01g Articolo di rassegna (Review)

rivista: JOURNAL OF CLINICAL ULTRASOUND (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. 252-259 - issn: 0091-2751 - wos: WOS:000374342600007 (10) - scopus: 2-s2.0-84945341624 (9)

11573/871179 - 2016 - Comparative Analysis of Real-Time Polymerase Chain Reaction Methods to TypingHLA-B*57:01in HIV-1-Positive Patients

Falasca, Francesca; Russo, Cinzia Dello; Mora, Barbara; Pirazzoli, Antonella; Fantauzzi, Alessandra; Navarra, Pierluigi; Pizzuti, Antonio; Antonelli, Guido; De Vito, Corrado; Turriziani, Ombretta - 01a Articolo in rivista

rivista: AIDS RESEARCH AND HUMAN RETROVIRUSES (Mary Ann Liebert Incorporated:2 Madison Avenue:Larchmont, NY 10538:(914)834-3100, EMAIL: info@liebertpub.com, swilliams@liebertpub.com, INTERNET: http://www.liebertpub.com, Fax: (914)834-3688) pp. 654-657 - issn: 0889-2229 - wos: WOS:000379609100005 (6) - scopus: 2-s2.0-84976511159 (7)

11573/896138 - 2016 - DNMT3B in vitro knocking-down is able to reverse embryonal rhabdomyosarcoma cell phenotype through inhibition of proliferation and induction of myogenic differentiation

Megiorni, Francesca; Camero, Simona; Ceccarelli, Simona; Mcdowell, Heather P; Mannarino, Olga; Marampon, Francesco; Pizer, Barry; Shukla, Rajeev; Pizzuti, Antonio; Marchese, Cinzia; Clerico, Anna; Dominici, Carlo - 01a Articolo in rivista

rivista: ONCOTARGET (Albany, N.Y. : Impact Journals) pp. 79342-79356 - issn: 1949-2553 - wos: WOS:000389636000090 (35) - scopus: 2-s2.0-84999740018 (37)

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 (28) - scopus: 2-s2.0-84952864713 (31)

11573/958197 - 2015 - The emerging role of MicroRNA in schizophrenia

Caputo, Viviana; Ciolfi, Andrea; Macri, Simone; Pizzuti, Antonio - 01a Articolo in rivista

rivista: CNS & NEUROLOGICAL DISORDERS. DRUG TARGETS (Sharjah : Bentham Science Publishers) pp. 208-221 - issn: 1996-3181 - wos: WOS:000352219800008 (27) - scopus: 2-s2.0-84930853953 (31)

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 (165) - scopus: 2-s2.0-84930092141 (169)

11573/815342 - 2015 - Crizotinib-induced antitumour activity in human alveolar rhabdomyosarcoma cells is not solely dependent on ALK and MET inhibition

Megiorni, Francesca; Mcdowell, Heather P; Camero, Simona; Mannarino, Olga; Ceccarelli, Simona; Paiano, Milena; Losty, Paul D; Pizer, Barry; Shukla, Rajeev; Pizzuti, Antonio; Clerico, Anna; Dominici, Carlo - 01a Articolo in rivista

rivista: JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH (London : BioMed Central) pp. 112- - issn: 1756-9966 - wos: WOS:000362316700002 (42) - scopus: 2-s2.0-84943585473 (42)

11573/927398 - 2015 - Novel POLR3A mutations causing hypomyelinating leukodystrophy

Paolacci, Stefano; Caputo, Viviana; V, .; Bruselles, ; A, .; Ciolfi, Andrea; A, .; Giovannetti, Agnese; A, .; Bertini, ; E, .; Pizzuti, Antonio; A, .; Leuzzi, Vincenzo; V, .; Tartaglia, - 04f Poster

11573/787433 - 2015 - Loss-of-function mutations in appl1 in familial diabetes mellitus

Prudente, Sabrina; Jungtrakoon, Prapaporn; Marucci, Antonella; Ludovico, Ornella; Buranasupkajorn, Patinut; Mazza, Tommaso; Hastings, Timothy; Milano, Teresa; Morini, Eleonora; Mercuri, Luana; Bailetti, Diego; Mendonca, Christine; Alberico, Federica; Basile, Giorgio; Romani, Marta; Miccinilli, Elide; Pizzuti, Antonio; Carella, Massimo; Barbetti, Fabrizio; Pascarella, Stefano; Marchetti, Piero; Trischitta, Vincenzo; Di Paola, Rosa; Doria, Alessandro - 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. 177-185 - issn: 0002-9297 - wos: WOS:000358189500016 (106) - scopus: 2-s2.0-84937522764 (119)

11573/785007 - 2015 - The use of piezosurgery in cranial surgery in children

Ramieri, Valerio; Saponaro, Gianmarco; Lenzi, Jacopo; Caporlingua, Federico; Polimeni, Antonella; Silvestri, A.; Pizzuti, Antonio; Roggini, Mario; Tarani, Luigi; Papoff, Paola; Giancotti, Antonella; Castori, Marco; Manganaro, Lucia; Cascone, Piero - 01a Articolo in rivista

rivista: THE JOURNAL OF CRANIOFACIAL SURGERY (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 Publisher: Burlington, Ont. : B.C. Decker, c1990- Boston Ma Little, Brown And Company. altri editori: LIPPINCOTT WILLIAMS & WILKINS, 530 WALNUT ST, PHILADELPHIA, USA, PA, 19106-3621.; B.C. Decker Inc.) pp. 840-842 - issn: 1049-2275 - wos: WOS:000355236700087 (15) - scopus: 2-s2.0-84953343562 (18)

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 (30) - scopus: 2-s2.0-84902540055 (29)

11573/596608 - 2014 - Single nucleotide polymorphisms in the promoter regions of Foxp3 and ICOSLG genes are associated with Alopecia Areata

G., Conteduca; Rossi, Alfredo; Megiorni, Francesca; A., Parodi; F., Ferrera; S., Tardito; F., Battaglia; F., Kalli; S., Negrini; Pizzuti, Antonio; E., Rizza; F., Indiveri; D., Fenoglio; G., Filaci - 01a Articolo in rivista

rivista: CLINICAL AND EXPERIMENTAL MEDICINE (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. 91-97 - issn: 1591-8890 - wos: WOS:000331073800011 (28) - scopus: 2-s2.0-84895174081 (33)

11573/854610 - 2014 - Comparison of ultrasound and magnetic resonance imaging in the prenatal diagnosis of Apert syndrome: Report of a case

Giancotti, Antonella; D'ambrosio, Valentina; De Filippis, Angela; Aliberti, Camilla; Pasquali, Gaia; Bernardo, Silvia; Manganaro, Lucia; Polimeni, Antonella; Pizzuti, Antonio; Cascone, Piero; Silvestri, Alessandro; Roggini, Mario; Tarani, Luigi; Papoff, Paola; Castori, Marco; Lenzi, Jacopo - 01a Articolo in rivista

rivista: CHILDS NERVOUS SYSTEM (Heidelberg Germany: Springer Verlag Germany) pp. 1445-1448 - issn: 0256-7040 - wos: WOS:000339730800017 (14) - scopus: 2-s2.0-84906934806 (18)

11573/640587 - 2014 - Deep Sequencing the microRNA profile in rhabdomyosarcoma reveals down-regulation of miR-378 family members.

Megiorni, Francesca; Cialfi, Samantha; Mcdowell, Hp; Felsani, A; Camero, Simona; Guffanti, A; Pizer, B; Clerico, Anna; De Grazia, Alessandra; Pizzuti, Antonio; Moles, A; Dominici, Carlo - 01a Articolo in rivista

rivista: BMC CANCER (London: BioMed Central, [2001]-) pp. - - issn: 1471-2407 - wos: WOS:000345933300002 (55) - scopus: 2-s2.0-84924345678 (59)

11573/573820 - 2014 - Lack of association between serotonin transporter 5-HTT gene polymorphism and endometriosis in an Italian patient population

Megiorni, Francesca; Resta, Serena; Deliar Yazdanian, Masouleh; Cavaggioni, Gabriele; Claudia, Lia; Benedetti Panici, Pierluigi; Pizzuti, Antonio; Porpora, Maria Grazia - 01a Articolo in rivista

rivista: JOURNAL OF NEGATIVE RESULTS IN BIOMEDICINE (London: BioMed Central.) pp. 12- - issn: 1477-5751 - wos: WOS:000289301200016 (5) - scopus: 2-s2.0-84903272910 (2)

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)

11573/573854 - 2014 - Immunogenetic investigation in vernal keratoconjunctivitis

Zicari, Anna Maria; Barbara, Mora; Valeria, Lollobrigida; Occasi, Francesca; Azzurra, Cesoni; Megiorni, Francesca; Pizzuti, Antonio; Nebbioso, Marcella; Duse, Marzia - 01a Articolo in rivista

rivista: PEDIATRIC ALLERGY AND IMMUNOLOGY (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. 508-510 - issn: 0905-6157 - wos: WOS:000341626500017 (12) - scopus: 2-s2.0-84907598430 (15)

11573/667219 - 2013 - Neurocognitive effects of methylphenidate on ADHD children with different DAT genotypes: A longitudinal open label trial

A., Pasini; Lorenzo, Sinibaldi; C., Paloscia; S., Douzgou; M. B., Pitzianti; E., Romeo; P., Curatolo; Pizzuti, Antonio - 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. 407-414 - issn: 1090-3798 - wos: WOS:000321091800012 (26) - scopus: 2-s2.0-84878839226 (28)

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 (27) - scopus: 2-s2.0-84885388227 (31)

11573/516432 - 2013 - Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

E., Flex; Ciolfi, Andrea; Caputo, Viviana; V., Fodale; C., Leoni; D., Melis; M. F., Bedeschi; L., Mazzanti; Pizzuti, Antonio; M., Tartaglia; G., Zampino - 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. 493-499 - issn: 0022-2593 - wos: WOS:000322123200001 (38) - scopus: 2-s2.0-84883199248 (42)

11573/517764 - 2013 - From Nuremberg to bioethics: an educational project for students of dentistry and dental prosthesis.

Marinozzi, Silvia; Corbellini, Gilberto; Ottolenghi, Livia; Ripari, Francesca; Pizzuti, Antonio; M., Pezzetti; Gaj, Fabio - 01a Articolo in rivista

rivista: ANNALI DI STOMATOLOGIA (Roma: CIC Edizioni Internazionali) pp. 138-141 - issn: 1971-1441 - wos: (0) - scopus: (0)

11573/540479 - 2013 - Over-expression of miR-494 and miR-145 correlates with CFTR and SMAD3 down-regulation in cystic fibrosis patients

Megiorni, F.; Cialfi, S.; Cimino, G.; De Biase, R. V.; Savi, Daniela; Dominici, Carlo; Quattrucci, Serena; Pizzuti, Antonio - 04d Abstract in atti di convegno

rivista: JOURNAL OF CYSTIC FIBROSIS (Elsevier Science Limited:Oxford Fulfillment Center, PO Box 800, Kidlington Oxford OX5 1DX United Kingdom:011 44 1865 843000, 011 44 1865 843699, EMAIL: asianfo@elsevier.com, tcb@elsevier.co.UK, INTERNET: http://www.elsevier.com, http://www.elsevier.com/locate/shpsa/, Fax: 011 44 1865 843010) pp. - - issn: 1569-1993 - wos: (0) - scopus: (0)

congresso: European Cystic Fibrosis Conference (Lisbona)

11573/515640 - 2013 - Elevated levels of miR-145 correlate with SMAD3 down-regulation in Cystic Fibrosis patients

Megiorni, Francesca; Cialfi, Samantha; Cimino, Giuseppe; De Biase, Riccardo Valerio; Dominici, Carlo; Quattrucci, Serena; Pizzuti, Antonio - 01a Articolo in rivista

11573/596615 - 2013 - Cytotoxic T-lymphocyte antigen 4 (CTLA4) +49AG and CT60 gene polymorphisms in Alopecia Areata: A case-control association study in the Italian population

Megiorni, Francesca; Mora, Barbara; Maxia, Cristina; Gerardi, Martina; Pizzuti, Antonio; Rossi, Alfredo - 01a Articolo in rivista

rivista: ARCHIVES OF DERMATOLOGICAL RESEARCH (Berlin; Heidelberg [u.a.]: Springer, 1975-2015) pp. 665-670 - issn: 0340-3696 - wos: WOS:000323619500012 (22) - scopus: 2-s2.0-84883226750 (22)

11573/528714 - 2012 - TDP-43 and FUS RNA-binding Proteins Bind Distinct Sets of Cytoplasmic Messenger RNAs and Differently Regulate Their Post-transcriptional Fate in Motoneuron-like Cells

C., Colombrita; E., Onesto; Megiorni, Francesca; Pizzuti, Antonio; F. E., Baralle; E., Buratti; V., Silani; A., Ratti - 01a Articolo in rivista

rivista: THE JOURNAL OF BIOLOGICAL CHEMISTRY (American Society for Biochemistry and Molecular Biology:9650 Rockville Pike:Bethesda, MD 20814:(301)530-7145, EMAIL: asbmb@asbmb.faseb.org, INTERNET: http://www.faseb.org/asbmb, Fax: (301)571-1824) pp. 15635-15647 - issn: 0021-9258 - wos: WOS:000304006300043 (205) - scopus: 2-s2.0-84860863883 (220)

11573/491221 - 2012 - The genetic basis of alopecia areata

Megiorni, Francesca; Carlesimo, Marta; Pizzuti, Antonio; Rossi, Alfredo - 02a Capitolo o Articolo

libro: Alopecia - (9781620818046)

11573/515990 - 2012 - HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing

Megiorni, Francesca; Pizzuti, Antonio - 01a Articolo in rivista

rivista: JOURNAL OF BIOMEDICAL SCIENCE (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. 88- - issn: 1021-7770 - wos: WOS:000310273900001 (162) - scopus: 2-s2.0-84867236366 (179)

11573/380154 - 2011 - ULERYTHEMA OPHRYOGENES, A RARE AND OFTEN MISDIAGNOSED SYNDROME: ANALYSIS OF AN IDIOPATHIC CASE

C., Dianzani; Pizzuti, Antonio; F., Gaspardini; L., Bernardini; B., Rizzo; A. M., Degener - 01a Articolo in rivista

rivista: INTERNATIONAL JOURNAL OF IMMUNOPATHOLOGY AND PHARMACOLOGY (- London : SAGE Publications Ltd - Chieti : Biomedical Research Press, 1988-) pp. 523-527 - issn: 0394-6320 - wos: WOS:000291965800028 (6) - scopus: 2-s2.0-80051821129 (6)

11573/433092 - 2011 - Brain Derived Neurotrophic Factor (BDNF) Expression Is Regulated by MicroRNAs miR-26a and miR-26b Allele-Specific Binding

Caputo, Viviana; Lorenzo, Sinibaldi; Alessia, Fiorentino; Chiara, Parisi; Catalanotto, Caterina; Augusto, Pasini; Cogoni, Carlo; Pizzuti, Antonio - 01a Articolo in rivista

rivista: PLOS ONE (San Francisco, CA : Public Library of Science) pp. e28656- - issn: 1932-6203 - wos: WOS:000298369100071 (104) - scopus: 2-s2.0-83355168037 (108)

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)

11573/442403 - 2011 - Synergistic Post-Transcriptional Regulation of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) by miR-101 and miR-494 Specific Binding

Megiorni, Francesca; Cialfi, Samantha; Dominici, Carlo; Quattrucci, Serena; Pizzuti, Antonio - 01a Articolo in rivista

rivista: PLOS ONE (San Francisco, CA : Public Library of Science) pp. e26601- - issn: 1932-6203 - wos: WOS:000296510800060 (25) - scopus: 2-s2.0-80054777791 (76)

11573/418500 - 2011 - Genetic association of HLA-DQB1 and HLA-DRB1 polymorphisms with alopecia areata in the Italian population

Megiorni, Francesca; Pizzuti, Antonio; Barbara, Mora; Adriana, Rizzuti; Garelli, Valentina; C., Maxia; Carlesimo, Maurizio; M. C., Fotruna; R., Delle Chiaie; Cavaggioni, Gabriele; Rossi, Alfredo - 01a Articolo in rivista

rivista: BRITISH JOURNAL OF DERMATOLOGY (Oxford: Oxford University Press Oxford: Blackwell Scientific Publications, 1960-) pp. 823-827 - issn: 0007-0963 - wos: WOS:000295285500015 (29) - scopus: 2-s2.0-80053569491 (36)

11573/418496 - 2011 - Clinical Significance of MicroRNA Expression Profiles and Polymorphisms in Lung Cancer Development and Management.

Megiorni, Francesca; Pizzuti, Antonio; Frati, Luigi - 01a Articolo in rivista

rivista: PATHOLOGY RESEARCH INTERNATIONAL (London : Sage-Hindawi Access to Research) pp. 1-7 - issn: 2042-003X - wos: (0) - scopus: (0)

11573/380163 - 2011 - Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion

Pizzuti, Antonio; Bottillo, Irene; Inzana, Francesca; Lanari, Valentina; Buttarelli, Francesca Romana; Torrente, Isabella; Giallonardo, Anna Teresa; Luca, Alessandro; De Luca, A.; Dallapiccola, Bruno - 01a Articolo in rivista

rivista: NEUROGENETICS (Heidelberg Germany: Springer Verlag Germany) pp. 233-240 - issn: 1364-6745 - wos: WOS:000294059600008 (8) - scopus: 2-s2.0-80052730873 (9)

11573/380158 - 2011 - Mitochondrial disfunction as a cause of ALS

Pizzuti, Antonio; Petrucci, S. - 01a Articolo in rivista

rivista: ARCHIVES ITALIENNES DE BIOLOGIE (-Pisa : Pacini -Pisa Italy: DIP Fisiologia Biochimica) pp. 113-119 - issn: 0003-9829 - wos: WOS:000290546800009 (12) - scopus: 2-s2.0-79952834573 (13)

11573/380166 - 2010 - Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome.

Anna Paola, Scioletti; Francesco, Brancati; Valentina, Gatta; Ivana, Antonucci; Bernard, Peissel; Pizzuti, Antonio; Carmen, Mortellaro; Stefano, Tete; Enrico, Gherlone; Giandomenico, Palka; Liborio, Stuppia - 01a Articolo in rivista

rivista: THE JOURNAL OF CRANIOFACIAL SURGERY (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 Publisher: Burlington, Ont. : B.C. Decker, c1990- Boston Ma Little, Brown And Company. altri editori: LIPPINCOTT WILLIAMS & WILKINS, 530 WALNUT ST, PHILADELPHIA, USA, PA, 19106-3621.; B.C. Decker Inc.) pp. 1654-1656 - issn: 1049-2275 - wos: WOS:000282003300086 (10) - scopus: 2-s2.0-79952197510 (10)

11573/229010 - 2010 - GIANT SCROTAL ELEPHANTIASIS: AN IDIOPATHIC CASE

C., Dianzani; F., Gaspardini; P., Persichetti; B., Brunetti; Pizzuti, Antonio; K., Margiotti; Degener, Anna Marta - 01a Articolo in rivista

rivista: INTERNATIONAL JOURNAL OF IMMUNOPATHOLOGY AND PHARMACOLOGY (- London : SAGE Publications Ltd - Chieti : Biomedical Research Press, 1988-) pp. 369-372 - issn: 0394-6320 - wos: WOS:000276758600038 (7) - scopus: 2-s2.0-77951753690 (8)

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 (14) - scopus: 2-s2.0-74849111707 (13)

11573/975404 - 2010 - Genetic variants in adipose triglyceride lipase influence lipid levels in familial combined hyperlipidemia

Nanni, Luisa; Quagliarini, Fabiana; Megiorni, Francesca; Montali, Anna; Minicocci, Ilenia; Campagna, Filomena; Pizzuti, Antonio; Arca, Marcello - 01a Articolo in rivista

rivista: ATHEROSCLEROSIS (Tokyo; Oxford; New York; Lausanne; Shannon; Amsterdam: Elsevier) pp. 206-211 - issn: 0021-9150 - wos: WOS:000283356400081 (7) - scopus: 2-s2.0-77958502859 (7)

11573/115571 - 2010 - Severe Neuropathy After Diphtheria-Tetanus-Pertussis Vaccination in a Child Carrying a Novel Frame-Shift Mutation in the Small Heat-Shock Protein 27 Gene

P., Mandich; M., Grandis; A., Varese; A., Geroldi; M., Acquaviva; P., Ciotti; R., Gulli; L., Doria Lamba; G. M., Fabrizi; G., Giribaldi; Pizzuti, Antonio; A., Schenone; E., Bellone - 01a Articolo in rivista

rivista: JOURNAL OF CHILD NEUROLOGY (Thousand Oaks: Sage Hamilton Ont.: Decker Periodicals, 1994-) pp. 107-109 - issn: 0883-0738 - wos: WOS:000273187300016 (27) - scopus: 2-s2.0-75649083819 (28)

11573/115572 - 2009 - Quantification of small non-coding RNAs allows an accurate comparison of miRNA expression profiles.

Masotti, A; Caputo, Viviana; Da Sacco, L; Pizzuti, Antonio; Dallapiccola, B; Bottazzo, Gf - 01a Articolo in rivista

rivista: JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY (NEW YORK:HINDAWI PUBLISHING CORPORATION Cairo : Dār al-Našr al-Iliktrūnī) pp. 2009:659028-2009:659028 - issn: 1110-7243 - wos: WOS:000270575300001 (20) - scopus: 2-s2.0-70349257339 (26)

11573/359525 - 2009 - Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy

Suppa, Antonio; Berardelli, Alfredo; Francesco, Brancati; Marianetti, Massimo; Giuseppe, Barrano; Concetta, Mina; Pizzuti, Antonio; Sideri, Giulio - 01a Articolo in rivista

rivista: EPILEPSIA (Hoboken: John Wiley & Sons Copenhagen: E. Munksgaard) pp. 1284-1288 - issn: 0013-9580 - wos: WOS:000265770000042 (33) - scopus: 2-s2.0-65549158033 (37)

11573/358595 - 2008 - High prevalence of epilepsy in a village in the Littoral Province of Cameroon

Francesca, Prischich; Marta De, Rinaldis; Flaminia, Bruno; Gabriella, Egeo; Chiara, Santori; Alessandra, Zappaterreno; Fattouch, Jinane; Carlo Di, Bonaventura; Jean, Bada; Russo, Gianluca; Pizzuti, Antonio; Cardona, Francesco Carmelo Giovanni; Saa, ; Vullo, Vincenzo; Giallonardo, Anna Teresa; D'erasmo, Emilio; Andrea, Pelliccia; Nicola, Vanacore - 01a Articolo in rivista

rivista: EPILEPSY RESEARCH (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. 200-210 - issn: 0920-1211 - wos: WOS:000261941600013 (64) - scopus: 2-s2.0-56949100483 (67)

11573/115717 - 2007 - Unravelling the complexity of T cell abnormalities in common variable immunodeficiency

A., Giovannetti; M., Pierdominici; F., Mazzetta; M., Marziali; C., Renzi; A. M., Mileo; M., De Felice; B., Mora; A., Esposito; R., Carello; Pizzuti, Antonio; M. G., Paggi; R., Paganelli; W., Malorni; F., Aiuti - 01a Articolo in rivista

rivista: JOURNAL OF IMMUNOLOGY (American Association of Immunologists:9650 Rockville Pike:Bethesda, MD 20814:(301)634-7024, EMAIL: staff@dues.faseb.org, INTERNET: http://www.aai.org, Fax: (301)634-7099) pp. 3932-3943 - issn: 0022-1767 - wos: WOS:000244942400069 (223) - scopus: 2-s2.0-33947214382 (250)

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 (27) - scopus: 2-s2.0-33847314717 (32)

11573/117145 - 2007 - In vitro effect of PPAR-gamma2 Pro12Ala polymorphism on the deposition of Alzheimer's amyloid-beta peptides.

D'abramo, C; Zingg, Jm; Pizzuti, Antonio; Argellati, F; Pronzato, Ma; Ricciarelli, R. - 01a Articolo in rivista

rivista: BRAIN RESEARCH (Amsterdam; Lausanne; New York; Oxford; Shannon; Tokyo: Elsevier) pp. 1-5 - issn: 0006-8993 - wos: WOS:000250430700001 (2) - scopus: 2-s2.0-34548854009 (1)

11573/358609 - 2007 - Case report of adult- onset Allgrove Syndrome

Gilio, F; Di Rezze, S; Conte, Antonella; Frasca, Vittorio; Iacovelli, Elisa; Marini Bettolo, C; Gabriele, M; Giacomelli, E; Pizzuti, Antonio; Pirro, Cristina; Fattapposta, Francesco; Habib, Fortunèe Irene; Prencipe, Massimiliano; Inghilleri, Maurizio - 01a Articolo in rivista

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. 331-335 - issn: 1590-1874 - wos: WOS:000252157800007 (16) - scopus: 2-s2.0-38049059887 (14)

11573/366499 - 2007 - Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer

Pardeep, Kaurah; Andree, Macmillan; Niki, Boyd; Janine, Senz; Alessandro De, Luca; Nicki, Chun; Gianpaolo, Suriano; Sonya, Zaor; Lori Van, Manen; Cathy, Gilpin; Sarah, Nikkel; Mary Connolly, Wilson; Scott, Weissman; Wendy S., Rubinstein; Courtney, Sebold; Robert, Greenstein; Jennifer, Stroop; Dwight, Yim; Benoit, Panzini; Wendy, Mckinnon; Marc, Greenblatt; Debrah, Wirtzfeld; Daniel, Fontaine; Daniel, Coit; Sam, Yoon; Daniel, Chung; Gregory, Lauwers; Pizzuti, Antonio; Carlos, Vaccaro; Maria Ana, Redal; Carla, Oliveira; Marc, Tischkowitz; Sylviane, Olschwang; Steven, Gallinger; Henry, Lynch; Jane, Green; James, Ford; Paul, Pharoah; Bridget, Fernandez; David, Huntsman - 01a Articolo in rivista

rivista: JAMA (American Medical Association:515 North State Street:Chicago, IL 60610:(800)262-2350, (312)464-2518, EMAIL: ama-subs@ama-assn.org, INTERNET: http://www.ama-assn.org, Fax: (312)464-5600) pp. 2360-2372 - issn: 0098-7484 - wos: WOS:000247007200018 (331) - scopus: 2-s2.0-34249989159 (397)

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)

11573/363580 - 2006 - Additive effects of genetic variation in dopamine regulating genes on working memory cortical activity in human brain

A., Bertolino; G., Blasi; V., Latorre; V., Rubino; A., Rampino; Lorenzo, Sinibaldi; G., Caforio; V., Petruzzella; Pizzuti, Antonio; T., Scarabino; M., Nardini; D. R., Weinberger; B., Dallapiccola - 01a Articolo in rivista

rivista: THE JOURNAL OF NEUROSCIENCE (Baltimore MD: Society of Neuroscience) pp. 3918-3922 - issn: 0270-6474 - wos: WOS:000236913000006 (174) - scopus: 2-s2.0-33646117739 (186)

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 (172) - scopus: 2-s2.0-33745265268 (197)

11573/176795 - 2006 - Sindrome di Munchausen by proxy

Galli, F.; Alesini, A.; Lasalvia, L.; Pizzuti, A.; Guidetti, Vincenzo - 02a Capitolo o Articolo

libro: Neuropsichiatria dell’Infanzia e dell’Adolescenza-Approfondimenti” - ()

11573/231083 - 2006 - Clinical features and outcome of familial chronic lymphocytic leukemia

Mauro, Francesca Romana; E., Giammartini; M., Gentile; I., Sperduti; V., Valle; Pizzuti, Antonio; Guarini, Anna; D., Giannarelli; Foa, Roberto - 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. 1117-1120 - issn: 0390-6078 - wos: WOS:000239523500018 (21) - scopus: 2-s2.0-33746938810 (36)

11573/115674 - 2006 - Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect

Sarkozy, A; Lepri, F; Marino Taussig De Bodonia, Bruno; Pizzuti, Antonio; 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. 1970-1972 - issn: 1552-4825 - wos: WOS:000240391800014 (5) - scopus: 2-s2.0-33748597974 (4)

11573/237849 - 2005 - Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors

A., Sarkozy; E., Conti; C., Neri; R., D'agostino; M. C., Digilio; G., Esposito; A., Toscano; Marino Taussig De Bodonia, Bruno; Pizzuti, Antonio; Dalla Piccola, Bruno - 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. e16-e16 - issn: 0022-2593 - wos: WOS:000226748100026 (129) - scopus: 2-s2.0-28444447608 (137)

11573/116944 - 2005 - Hyperthrophic cardiomyopathy and the PTPN11 gene

Anna, Sarkozy; C., Conti; Autore, Camillo; M., Tartaglia; Francesca Romana, Lepri; Pizzuti, Antonio - 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. 93-94 - issn: 1552-4825 - wos: WOS:000230213200020 (9) - scopus: 2-s2.0-21644446057 (10)

11573/115671 - 2005 - Role of peroxisome proliferator-activated receptor gamma in amyloid precursor protein processing and amyloid beta-mediated cell death

C., D'abramo; S., Massone; J. M., Zingg; Pizzuti, Antonio; P., Marambaud; B., Dalla Piccola; A., Azzi; U. M., Marinari; M. A., Pronzato; R., Ricciarelli - 01a Articolo in rivista

rivista: BIOCHEMICAL JOURNAL (London: Portland Press Limited London: Biochemical Society, 1984-) pp. 693-698 - issn: 0264-6021 - wos: WOS:000233253400026 (74) - scopus: 2-s2.0-27744510142 (82)

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 (114) - scopus: 2-s2.0-28144437387 (127)

11573/240081 - 2005 - LGI1 gene mutation screening in sporadic partial epilepsy with auditory features

E., Flex; Pizzuti, Antonio; C., Di Bonaventura; S., Douzgou; G., Egeo; J., Fattouch; M., Manfredi; B., Dallapiccola; Giallonardo, Anna Teresa - 01a Articolo in rivista

rivista: JOURNAL OF NEUROLOGY (Heidelberg Germany: Springer Verlag) pp. 62-66 - issn: 0340-5354 - wos: WOS:000226322100010 (9) - scopus: 2-s2.0-13144261731 (8)

11573/238628 - 2005 - Association of the matrix metalloproteinase-3 (MMP-3) promooter polymorphism with celiac disease in male subjects

Mora, B; Bonamico, Margherita; Ferri, M; Megiorni, Francesca; Osborn, John Frederick; Pizzuti, Antonio; Mazzilli, Maria Cristina - 01a Articolo in rivista

rivista: HUMAN IMMUNOLOGY (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. 716-720 - issn: 0198-8859 - wos: WOS:000230868800009 (13) - scopus: 2-s2.0-21544437616 (14)

11573/237017 - 2005 - CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects.

Sarkozy, A.; Esposito, G.; Conti, E.; Digilio, M. C.; Marino Taussig De Bodonia, Bruno; Calabro, R.; Pizzuti, Antonio; 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. 236-238 - issn: 1552-4825 - wos: WOS:000233756600012 (22) - scopus: 2-s2.0-28444474221 (23)

11573/240789 - 2005 - ZEPM2/FOG2 AND HEY2 GENES ANALYSIS IN NONSYNDROMIC TRICUSPID ATRESIA

Sarkozy, A; Conti, E; D'agostino, R; Digilio M., C; Formigari, R; Picchio, F; Marino Taussig De Bodonia, Bruno; Pizzuti, Antonio; 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. 68-70 - issn: 1552-4825 - wos: WOS:000226619200013 (12) - scopus: 2-s2.0-12944255784 (16)

11573/233652 - 2004 - Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome

A., Sarkozy; E., Conti; M. C., Digilio; Marino Taussig De Bodonia, Bruno; E., Morini; G., Pacileo; M., Wilson; R., Calabro'; Pizzuti, Antonio; Dalla Piccola, Bruno - 01a Articolo in rivista

rivista: EJMG (London: BMJ Publishing Group.) pp. e68-e68 - issn: 1468-6244 - wos: WOS:000221165600028 (102) - scopus: 2-s2.0-3042761427 (130)

11573/363847 - 2004 - Preliminary data suggest that mutations in the CgRP pathway are not involved in human sporadic cryptorchidism.

D., Zuccarello; Morini, E; Douzgou, S; Ferlin, A; Pizzuti, Antonio; Salpietro, Dc; Foresta, C; Dallapiccola, B. - 01a Articolo in rivista

rivista: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION (Springer Milano: Editrice Kurtis Srl) pp. 761-764 - issn: 0391-4097 - wos: WOS:000225446600011 (14) - scopus: 2-s2.0-10244270755 (17)

11573/117243 - 2004 - Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: A case-control study

Emilio Di, Maria; Rossella, Gulli; Silvia, Begni; Alessandro De, Luca; Stefano, Bignotti; Augusto, Pasini; Emilia, Bellone; Pizzuti, Antonio; Bruno, Dallapiccola; Giuseppe, Novelli; Franco, Ajmar; Massimo, Gennarelli; Paola, Mandich - 01a Articolo in rivista

rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS (Hoboken, N.J. : Wiley-Liss, c2003-) pp. 27-29 - issn: 1552-4841 - wos: WOS:000222423700007 (32) - scopus: 2-s2.0-3042847443 (33)

11573/362861 - 2004 - A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13

Francesco, Brancati; E. M., Valente; A., Sarkozy; J., Feher; M., Castori; P., Del Duca; R., Mingarelli; Pizzuti, Antonio; B., Dallapiccola - 01a Articolo in rivista

rivista: EJMG (London: BMJ Publishing Group.) pp. 188-192 - issn: 1468-6244 - wos: WOS:000189344300009 (102) - scopus: 2-s2.0-1542616280 (118)

11573/365583 - 2004 - Mutations in the Nogo-66 receptor (RTN4R) gene in schizophrenia

L., Sinibaldi; De Luca, A; Bellacchio, E; Conti, E; Pasini, A; Paloscia, C; Spalletta, G; Caltagirone, C; Pizzuti, Antonio; Dallapiccola, B. - 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. 534-535 - issn: 1059-7794 - wos: (0) - scopus: 2-s2.0-28144437017 (63)

11573/112494 - 2004 - Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations

M., Cristina Digilio; Giuseppe, Pacileo; Anna, Sarkozy; Giuseppe, Limongelli; Emanuela, Conti; Fabiana, Cerrato; Marino Taussig De Bodonia, Bruno; Pizzuti, Antonio; R., Calabro'; Bruno, Dallapiccola - 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. 95-98 - issn: 1542-0752 - wos: WOS:000220013200007 (13) - scopus: 2-s2.0-10744221281 (15)

11573/116895 - 2004 - Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor. Parkinsonism Relat Disord.

Pigullo, S; De Luca, A; Barone, P; Marchese, R; Bellone, E; Colosimo, A; Scaglione, C; Martinelli, P; Di Maria, E; Pizzuti, Antonio; Abbruzzese, G; Dallapiccola, B; Ajmar, F; Mandich, P. - 01a Articolo in rivista

rivista: PARKINSONISM & RELATED DISORDERS (Elsevier Science:Molenwarf 1, 1014 AG Amsterdam The Netherlands:011 31 20 4853597, EMAIL: p.j.bishop@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 31 20 4853249) pp. 357-372 - issn: 1353-8020 - wos: WOS:000223285800004 (19) - scopus: 2-s2.0-3242703258 (21)

11573/237855 - 2004 - Focal dystonia caused by Mohr-Tranebjaerg syndrome with complete deletion of the DDP1 gene

Pizzuti, Antonio; Fabbrini, Giovanni; Salehi, L.; Vacca, L.; Inghilleri, Maurizio; Dallapiccola, B.; Berardelli, Alfredo - 01a Articolo in rivista

rivista: NEUROLOGY (Wolters Kluwer Hagerstown MD: Lippincott Williams & Wilkins Cleveland Ohio: Advanstar Communications) pp. 1021-1022 - issn: 0028-3878 - wos: WOS:000220365300043 (12) - scopus: 2-s2.0-1842457707 (14)

11573/117248 - 2004 - A homozigous GJA1 gene mutation causes a Hellermann-Streiff/ODDD overlapping phenotype

Pizzuti, Antonio; Flex, E.; Mingarelli, R.; Salpietro, C; Zelante, L; Dallapiccola, B. - 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. 286- - issn: 1059-7794 - wos: (0) - scopus: 2-s2.0-1642324567 (91)

11573/240112 - 2004 - A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome

Sarkozy, A; Obregon, Mg; Conti, E; Esposito, G; Mingarelli, R; Pizzuti, Antonio; Dalla Piccola, 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. 1069-1072 - issn: 1018-4813 - wos: WOS:000225165200013 (42) - scopus: 2-s2.0-10044231501 (52)

11573/117244 - 2004 - Leopard syndrome: a new polyaneurismal association and an update on the molecular genetics of the disease

Yagubian, M; Panneton, Jm; Lindoor, N; Conti, E; Sarkosy, A; Pizzuti, Antonio - 01a Articolo in rivista

rivista: JOURNAL OF VASCULAR SURGERY (-NEW YORK, USA: MOSBY-ELSEVIER -Orlando, FL: Mosby Year Book Incorporated INTERNET: http://www.mosby.com,) pp. 897-900 - issn: 0741-5214 - wos: WOS:000227387300038 (8) - scopus: 2-s2.0-1642464754 (12)

11573/250600 - 2003 - Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes

A., Sarkozy; E., Conti; D., Seripa; M. C., Digilio; N., Grifone; C., Tandoi; V. M., Fazio; V., Di Ciommo; Marino Taussig De Bodonia, Bruno; Pizzuti, Antonio; Dalla Piccola, Bruno - 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. 704-708 - issn: 0022-2593 - wos: WOS:000185177700011 (146) - scopus: 2-s2.0-0042329925 (166)

11573/115824 - 2003 - Nonsyndromic pulmonary valve stenosis and the PTPN11 gene

Anna, Sarkozy; Emanuela, Conti; Marino Taussig De Bodonia, Bruno; Maria Cristina, Digilio; Vincenzo, Paoletti; Rita, Mingarelli; Giorgia, Esposito; Pizzuti, Antonio; Bruno, Dallapiccola - 01b Commento, Erratum, Replica e simili

rivista: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030) pp. 389-390 - issn: 1552-4825 - wos: WOS:000182400800016 (14) - scopus: 2-s2.0-0043180465 (15)

11573/117057 - 2003 - . Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A.

Brancati, F; Valente, Em; Davies, Np; Sarkozy, A; Sweeney, Mg; Lomonaco, M; Pizzuti, Antonio; Hanna, Mg; Dallapiccola, B. - 01a Articolo in rivista

rivista: JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY (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. 1339-1341 - issn: 0022-3050 - wos: WOS:000184881200038 (27) - scopus: 2-s2.0-0141740617 (34)

11573/112999 - 2003 - DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene

Conti, E; Grifone, N; Sarkozy, A; Tandoi, C; Marino Taussig De Bodonia, Bruno; Digilio, Mc; Mingarelli, R; Pizzuti, Antonio; Dalla Piccola, 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. 349-351 - issn: 1018-4813 - wos: WOS:000182505800009 (43) - scopus: 2-s2.0-0038364111 (44)

11573/362284 - 2003 - Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene

Defazio, G.; Brancati, F.; Valente, E. M.; Caputo, Viviana; Pizzuti, Antonio; Martino, D.; Abbruzzese, G.; Livrea, P.; Berardelli, Alfredo; Dalla Piccola, Bruno - 01a Articolo in rivista

rivista: MOVEMENT DISORDERS (-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. 207-212 - issn: 0885-3185 - wos: WOS:000181007900014 (30) - scopus: 2-s2.0-0344837904 (45)

11573/116999 - 2003 - Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy

Di Muzio, A; De Angelis, Mv; Di Fulvio, P; Ratti, A; Pizzuti, Antonio; Stuppia, L; Gambi, D; Uncini, A. - 01a Articolo in rivista

rivista: MUSCLE & NERVE (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. 500-6 - issn: 0148-639X - wos: WOS:000181946000015 (44) - scopus: 2-s2.0-0037382098 (56)

11573/116998 - 2003 - Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12

Flex, E; Mangino, M; Mazzili, M; Martini, A; Migliosi, V; Colosimo, A; Mingarelli, R; Pizzuti, Antonio; Dallapiccola, B. - 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. 278-81 - issn: 0022-2593 - wos: WOS:000182155900007 (8) - scopus: 2-s2.0-0037374843 (10)

11573/117001 - 2003 - Hereditary Gingival Fibromatosis (Hgf) with hypertrichosis is unlinked to the Hgf1 and Hgf2 Loci

Mangino, M; Bonfante, A; Cucchiara, E; Pizzuti, Antonio; Dallapiccola, B. - 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. 312-314 - issn: 0148-7299 - wos: WOS:000182400700020 (13) - scopus: 2-s2.0-12244295432 (15)

11573/254976 - 2003 - Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism.

Pizzuti, Antonio; Elisabetta, Flex; Carlo Di Bonaventura, ; Tania, Dottorini; Gabriella, Egeo; Mario, Manfredi; Bruno, Dallapiccola; Giallonardo, Anna Teresa - 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. 396-399 - issn: 0364-5134 - wos: (0) - scopus: 2-s2.0-0037371070 (51)

11573/254008 - 2003 - Mutations of FOG-2 gene in sporadic cases of Tetralogy of Fallot

Pizzuti, Antonio; Sarkozy, A; Newton, Al; Conti, E; Flex, E; Digilio, Mc; Amati, F; Gianni, D; Tandoi, C; Marino Taussig De Bodonia, Bruno; Crossley, M; Dalla Piccola, Bruno - 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. 372-3777 - issn: 1059-7794 - wos: WOS:000244273200001 (28) - scopus: 2-s2.0-33847294697 (33)

11573/1414827 - 2003 - Genetic variants of modulators of insulin action

Tassi, V.; Di Paola, R.; Pizzuti, A.; Frittitta, L.; Trischitta, V. - 01a Articolo in rivista

rivista: INTERNATIONAL CONGRESS SERIES (Amsterdam :Elsevier BV Oxford ; New York ; Amsterdam : Excerpta Medica) pp. 45-53 - issn: 0531-5131 - wos: WOS:000186667300006 (0) - scopus: 2-s2.0-85023103773 (0)

11573/1414846 - 2002 - The role of PC-1 and ACE genes in diabetic nephropathy in type 1 diabetic patients: Evidence for a polygenic control of kidney disease progression

De Cosmo, S.; Miscio, G.; Zucaro, L.; Margaglione, M.; Argiolas, A.; Thomas, S.; Piras, G.; Trevisan, R.; Perin, P. C.; Bacci, S.; Frittitta, L.; Pizzuti, A.; Tassi, V.; Di Minno, G.; Viberti, G.; Trischitta, V. - 01a Articolo in rivista

rivista: NEPHROLOGY DIALYSIS TRANSPLANTATION (Oxford University Press:Journals Department, Great Clarendon Street, Oxford OX2 6DP United Kingdom:011 44 1865 556767, EMAIL: jnlorders@oup.co.uk, INTERNET: http://www.oup.co.uk, Fax: 011 44 1865 267485) pp. 1402-1407 - issn: 0931-0509 - wos: WOS:000177372900010 (14) - scopus: 2-s2.0-0035993273 (17)

11573/361355 - 2002 - Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia

Francesco, Brancati; Giovanni, Defazio; Caputo, Viviana; Enza Maria, Valente; Pizzuti, Antonio; Paolo, Livrea; Berardelli, Alfredo; Bruno, Dallapiccola - 01a Articolo in rivista

rivista: MOVEMENT DISORDERS (-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. 392-397 - issn: 0885-3185 - wos: WOS:000174740500025 (15) - scopus: 2-s2.0-0036523847 (23)

11573/249812 - 2002 - Leiomyosarcoma of the larynx: Case report with pathologic and surgical considerations

Fusconi, Massimo; Magliulo, Giuseppe; Pizzuti, Antonio; Caterina, Ceccarini; Soldo, Pietro; De Vincentiis, Marco - 01a Articolo in rivista

rivista: JOURNAL OF OTOLARYNGOLOGY (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) pp. 393-396 - issn: 0381-6605 - wos: WOS:000180790000014 (6) - scopus: 2-s2.0-0036931206 (7)

11573/254642 - 2002 - Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene

Maria Cristina, Digilio; Emanuela, Conti; Anna, Sarkozy; Rita, Mingarelli; Tania, Dottorini; Marino Taussig De Bodonia, Bruno; Pizzuti, Antonio; 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. 389-394 - issn: 0002-9297 - wos: WOS:000176977700016 (288) - scopus: 2-s2.0-0036074033 (339)

11573/251598 - 2002 - An ATG repeat in the 3’UTR of the hResistin gene is associated with a decreased risk of insulin resistance

Pizzuti, Antonio; Argiolas, A; Di Paola, R; Baratta, R; Rauseo, A; Bozzali, M; Vigneri, R; Dallapiccola, B; Trischitta, Vincenzo; Frittitta, L. - 01a Articolo in rivista

rivista: THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (-Springfield, Ill. : Charles C. Thomas -Philadelphia : J.B. Lippincott Co. -Baltimore, Md. : Issued for the Endocrine Society by the Williams & Wilkins Co. -Bethesda, MD : Endocrine Society -Chevy Chase, MD : Endocrine Society) pp. 4403-4406 - issn: 0021-972X - wos: WOS:000178201200062 (77) - scopus: 2-s2.0-18544389092 (82)

11573/364475 - 2001 - The Q allele variant (GLN121) of membrane glycoprotein PC-1 interacts with the insulin receptor and inhibits insulin signaling more effectively than the common K allele variant (LYS121)

B. V., Costanzo; Trischitta, Vincenzo; R., Di Paola; D., Spampinato; Pizzuti, Antonio; R., Vigneri; L., Frittitta - 01a Articolo in rivista

rivista: DIABETES (American Diabetes Association:National Service Center, 1701 North Beaureguard Street:Alexandria, VA 22311:(800)232-3472, (703)549-1500, INTERNET: http://www.diabetes.org/diabetscare, Fax: (703)549-6995) pp. 831-836 - issn: 0012-1797 - wos: WOS:000167719600018 (119) - scopus: 2-s2.0-0035080028 (126)

11573/123849 - 2001 - The Q121 PC-1 variant and obesity have additive and independent effects in causing insulin resistance.

L., Frittitta; R., Baratta; D., Spampinato; R., Di Paola; Pizzuti, Antonio; R., Vigneri; Trischitta, Vincenzo - 01a Articolo in rivista

rivista: THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (-Springfield, Ill. : Charles C. Thomas -Philadelphia : J.B. Lippincott Co. -Baltimore, Md. : Issued for the Endocrine Society by the Williams & Wilkins Co. -Bethesda, MD : Endocrine Society -Chevy Chase, MD : Endocrine Society) pp. - - issn: 0021-972X - wos: WOS:000172728200038 (49) - scopus: 2-s2.0-0035217903 (54)

11573/256410 - 2001 - A cluster of 3 single nucleotide polymorphisms in the 3\'-untranslated region of human glycoprotein PC-1 gene stabilizes mRNA and associates with increased protein content and insulin resistance related abnormalities

Lucia, Frittitta; Tonino, Ercolino; Maura, Bozzali; Alessandra, Argiolas; Salvo, Graci; Maria G., Santagati; Daniela, Spampinato; Rosa Di, Paola; Vittorio, Tassi; Riccardo, Vigneri; Pizzuti, Antonio; Trischitta, Vincenzo - 01a Articolo in rivista

rivista: DIABETES (American Diabetes Association:National Service Center, 1701 North Beaureguard Street:Alexandria, VA 22311:(800)232-3472, (703)549-1500, INTERNET: http://www.diabetes.org/diabetscare, Fax: (703)549-6995) pp. 1952-1955 - issn: 0012-1797 - wos: WOS:000170096700037 (58) - scopus: 2-s2.0-0035434678 (69)

11573/123970 - 2000 - Association between the human glycoprotein PC-1 gene and elevated glucose and insulin levels in a paired-sibling analysis

H. F., Gu; P., Almgren; E., Lindholm; L., Frittitta; Pizzuti, Antonio; Trischitta, Vincenzo; L. C., Groop - 01a Articolo in rivista

rivista: DIABETES (American Diabetes Association:National Service Center, 1701 North Beaureguard Street:Alexandria, VA 22311:(800)232-3472, (703)549-1500, INTERNET: http://www.diabetes.org/diabetscare, Fax: (703)549-6995) pp. 1608-1611 - issn: 0012-1797 - wos: WOS:000089062800027 (85) - scopus: 2-s2.0-0033850381 (81)

11573/123911 - 2000 - The K121Q variant of human PC-1 gene is not associated with insulin resistance or type 2 diabetes mellitus among Danish Caucasians

S. K., Rasmussen; S. A., Urhammer; Pizzuti, Antonio; S. M., Echwald; C. T., Ekstrom; L., Hansen; T., Hansen; K., Borch Johnsen; L., Frittitta; Trischitta, Vincenzo; O., Pedersen - 01a Articolo in rivista

rivista: DIABETES (American Diabetes Association:National Service Center, 1701 North Beaureguard Street:Alexandria, VA 22311:(800)232-3472, (703)549-1500, INTERNET: http://www.diabetes.org/diabetscare, Fax: (703)549-6995) pp. 1601-1603 - issn: 0012-1797 - wos: (0) - scopus: 2-s2.0-0033863689 (95)

11573/124140 - 2000 - A PC-1 aminoacid variant (K121Q) is associated with faster progression of renal disease in patients with type 1 diabetes and albuminuria.

S., De Cosmo; A., Argiolas; G., Miscio; S., Thomas; Gp, Piras; R., Trevisan; P., Cavallo Perin; S., Bacci; L., Zucaro; M., Margaglione; L., Frittitta; Pizzuti, Antonio; V., Tassi; Gc, Viberti; Trischitta, Vincenzo - 01a Articolo in rivista

rivista: DIABETES (American Diabetes Association:National Service Center, 1701 North Beaureguard Street:Alexandria, VA 22311:(800)232-3472, (703)549-1500, INTERNET: http://www.diabetes.org/diabetscare, Fax: (703)549-6995) pp. 521-524 - issn: 0012-1797 - wos: WOS:000085654800030 (34) - scopus: 2-s2.0-0034048785 (38)

11573/1414952 - 1999 - Erratum: A polymorphism (K121Q) of the human glycoprotein PC-1 gene coding region is strongly associated with insulin resistance (Diabetes (1999) 48 (1881-1884))

Pizzuti, A.; Frittitta, L.; Argiolas, A.; Baratta, R.; Goldfine, I. D.; Bozzali, M.; Ercolino, T.; Scarlato, G.; Iacoviello, L.; Vigneri, R.; Tassi, V.; Trischitta, V. - 01b Commento, Erratum, Replica e simili

rivista: DIABETES (American Diabetes Association:National Service Center, 1701 North Beaureguard Street:Alexandria, VA 22311:(800)232-3472, (703)549-1500, INTERNET: http://www.diabetes.org/diabetscare, Fax: (703)549-6995) pp. 2481- - issn: 0012-1797 - wos: (0) - scopus: 2-s2.0-0033499586 (0)

11573/257040 - 1999 - A polymorphism (K121Q) of the human glycoprotein PC-1 coding region is strongly associated with insulin resistance

Pizzuti, Antonio; Frittitta, L; Argiolas, A; Baratta, R; Goldfine I., D; Bozzali, M; Ercolino, T; Scarlato, G; Iacoviello, L; Vigneri, R; Tassi, V; Trischitta, Vincenzo - 01a Articolo in rivista

rivista: DIABETES (American Diabetes Association:National Service Center, 1701 North Beaureguard Street:Alexandria, VA 22311:(800)232-3472, (703)549-1500, INTERNET: http://www.diabetes.org/diabetscare, Fax: (703)549-6995) pp. 1881-1884 - issn: 0012-1797 - wos: WOS:000082244900031 (188) - scopus: 2-s2.0-0032857338 (205)

11573/127532 - 1999 - Screening of thyrotropin receptor mutations by fine-needle aspiration biopsy in autonomous functioning thyroid nodules in multinodular goiters.

V., Tassi; A., Di Cerbo; A., Porcellini; E., Papini; C., Cisternino; A., Crescenzi; A., Scillitani; Pizzuti, Antonio; A., Ratti; Trischitta, Vincenzo; V. E., Avvedimento; G. Fenzi V., De Filippis - 01a Articolo in rivista

rivista: THYROID (Larchmont, NY : Mary Ann Liebert) pp. 353-357 - issn: 1050-7256 - wos: WOS:000079942300005 (16) - scopus: 2-s2.0-0032968013 (21)

11573/402945 - 1995 - Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients

Gennarelli, M.; Lucarelli, Marco; Capon, F.; Pizzuti, Antonio; Merlini, L.; Angelini, C.; Novelli, G.; Dallapiccola, B. - 01a Articolo in rivista

rivista: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (San Diego [etc.]: Elsevier [etc.]) pp. 342-348 - issn: 0006-291X - wos: WOS:A1995RN59400046 (174) - scopus: 2-s2.0-0029147787 (184)

11573/402943 - 1995 - Different expression of the myotonin protein kinase gene in discrete areas of human brain

Gennarelli, M.; Lucarelli, Marco; Zelano, G.; Pizzuti, Antonio; Novelli, G.; Dallapiccola, B. - 01a Articolo in rivista

rivista: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (San Diego [etc.]: Elsevier [etc.]) pp. 489-494 - issn: 0006-291X - wos: WOS:A1995TE76200009 (5) - scopus: 2-s2.0-0028820106 (6)