Pubblicazioni

Mosaic genomeâwide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells

2023 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Mastromoro, Gioia; Guadagnolo, Daniele; Marchionni, Enrica; Torres, Barbara; Goldoni, Marina; Onori, Annamaria; Bernardini, Laura; De Luca, Alessandro; Torrente, Isabella; Pizzuti, Antonio

LTBP2-related âMarfan-likeâ phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant

2019 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Morlino, Silvia; Alesi, Viola; CalÃ¬, Federica; Lepri, Francesca Romana; Secinaro, Aurelio; Grammatico, Paola; Novelli, Antonio; Drago, Fabrizio; Castori, Marco; Baban, Anwar

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers

2018 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Unolt, Marta; Versacci, Paolo; Anaclerio, Silvia; Lambiase, Caterina; Calcagni, Giulio; Trezzi, Matteo; Carotti, Adriano; Crowley, Terrence Blaine; Zackai, Elaine H.; Goldmuntz, Elizabeth; Gaynor, James William; Digilio, Maria Cristina; Mcdonald-Mcginn, Donna M.; Marino, Bruno

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

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