Pubblicazioni

Congenital heart defects in molecularly confirmed KBG syndrome patients

2021 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Digilio, M. C.; Calcagni, G.; Gnazzo, M.; Versacci, P.; Dentici, M. L.; Capolino, R.; Sinibaldi, L.; Baban, A.; Putotto, C.; Alfieri, P.; Unolt, M.; Lepri, F. R.; Alesi, V.; Genovese, S.; Novelli, A.; Marino, B.; Dallapiccola, B.

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

Familial aggregation of âapple peelâ intestinal atresia and cardiac left-sided obstructive lesions: a possible causal relationship with NOTCH1 gene mutations

2019 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Digilio, M. C.; Magliozzi, M.; Di Pede, A.; Valfre, L.; Dentici, M. L.; Auriti, C.; Marino, B.; Novelli, A.; Dallapiccola, B.

Congenital heart defects in molecularly proven Kabuki syndrome patients

2017 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Digilio, Maria Cristina; Gnazzo, Maria; Lepri, Francesca; Dentici, Maria Lisa; Pisaneschi, Elisa; Baban, Anwar; Passarelli, Chiara; Capolino, Rossella; Angioni, Adriano; Novelli, Antonio; Marino, 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