Pubblicazioni

Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome

2015 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Grochowski, C; Rajagopalan, R; Falsey, A; Loomes, K; Piccoli, D; Krantz, I; Devoto, Marcella; Spinner, N.

A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum

2015 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

V., Guida; L., Sinibaldi; Pagnoni, Mario; L., Bernardini; S., Loddo; K., Margiotti; M. C., Digilio; Fadda, Maria Teresa; B., Dallapiccola; G., Iannetti; A., De Luca

Noonan syndrome-like disorder with loose anagen hair: A second case with neuroblastoma.

2015 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Garavelli, L; Cordeddu, V; Errico, S; Bertolini, P; Street, Me; Rosato, S; Pollazzon, M; Wischmeijer, A; Ivanovski, I; Daniele, P; Bacchini, E; Lombardi, Aa; Izzi, G; Biasucci, G; Del Rossi, C; Corradi, D; Cazzaniga, G; Dominici, Carlo; Rossi, C; De Luca, A; Bernasconi, S; Riccardi, R; Legius, E; Tartaglia, M.

Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: Delineation of cerebro-dermato-osseous-dysplasia.

2015 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Castori, M; Pascolini, G; Parisi, V; Sana, Me; Novelli, A; NÃ¼rnberg, P; Iascone, M; Grammatico, Paola

Hypoplastic left heart syndrome and 21q22.3 deletion

2015 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Ciocca, Laura; Digilio, M. Cristina; Lombardo, Antonietta; D'Elia, Gemma; Baban, Anwar; Capolino, Rossella; Petrocchi, Stefano; Russo, Serena; Sirleto, Pietro; Roberti, M. Cristina; Marino, Bruno; Angioni, Adriano; Dallapiccola, Bruno

Axial skeletogenesis in human aneuploidies: a radiographic study of 145 second trimester fetuses

2015 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Castori, Marco; Servadei, Francesca; Laino, Luigi; Pascolini, Giulia; Fabbri, Romano; Cifani, Anna Elisabetta; Scassellati Sforzolini, Giovanna; Silvestri, Evelina; Grammatico, Paola