Pubblicazioni

Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region

2016 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Nicita, Francesco; Garone, Giacomo; Spalice, Alberto; Savasta, Salvatore; Striano, Pasquale; Pantaleoni, Chiara; SpartÃ , Maria Valentina; Kluger, Gerhard; Capovilla, Giuseppe; Pruna, Dario; Freri, Elena; D'Arrigo, Stefano; Verrotti, Alberto

The crucial role of FBXO28 in the pathogenesis of the 1q41q42 microdeletion syndrome

2016 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Papetti, Laura; Schettini, Livia; Garone, Giacomo; Gennaro, Elena; Malacarne, Michela; Properzi, Enrico; Spalice, Alberto

Cognitive, adaptive, and behavioral features in Joubert syndrome

2016 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Bulgheroni, Sara; D'Arrigo, Stefano; Signorini, Sabrina; Briguglio, Marilena; Di Sabato, Maria Lucia; Casarano, Manuela; Mancini, Francesca; Romani, Marta; Alfieri, Paolo; Battini, Roberta; Zoppello, Marina; Tortorella, Gaetano; Bertini, Enrico; Leuzzi, Vincenzo; Valente, Enza Maria; Riva, Daria

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies

2016 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Rajagopalan, Ramakrishnan; Grochowski, Christopher M.; Gilbert, Melissa A.; Falsey, Alexandra M.; Coleman, Karlene; Romero, Rene; Loomes, Kathleen M.; Piccoli, David A.; Devoto, Marcella; Spinner, Nancy B.

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples

2016 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Giorgio, Elisa; Ciolfi, Andrea; Biamino, Elisa; Caputo, Viviana; Di Gregorio, Eleonora; Belligni, Elga Fabia; Calcia, Alessandro; Gaidolfi, Elena; Bruselles, Alessandro; Mancini, Cecilia; Cavalieri, Simona; Molinatto, Cristina; Cirillo Silengo, Margherita; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo

Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome

2016 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Radio, FRANCESCA CLEMENTINA; Digilio, Maria Cristina; Capolino, Rossella; Dentici, MARIA LISA; Unolt, Marta; Alesi, Viola; Novelli, Antonio; MARINO TAUSSIG DE BODONIA, Bruno; Dallapiccola, Bruno

Congenital immunodeficiency in an individual with WiedemannÃ¢ÂÂSteiner syndrome due to a novel missense mutation in KMT2A

2016 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Stellacci, Emilia; Onesimo, Roberta; Bruselles, Alessandro; Pizzi, Simone; Battaglia, Domenica; Leoni, Chiara; Zampino, Giuseppe; Tartaglia, Marco

Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development

2016 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Whitman, M. C.; Andrews, C.; Chan, W. -M.; Tischfield, M. A.; Stasheff, S. F.; Brancati, F.; Ortiz-Gonzalez, X.; Nuovo, S.; Garaci, F.; Mackinnon, S. E.; Hunter, D. G.; Grant, P. E.; Engle, E. C.