Pubblicazioni

Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families

2019 - HUMAN MUTATION

Youssefian, L.; Vahidnezhad, H.; Saeidian, A. H.; Touati, A.; Sotoudeh, S.; Mahmoudi, H.; Mansouri, P.; Daneshpazhooh, M.; Aghazadeh, N.; Hesari, K. K.; Basiri, M.; Londin, E.; Kumar, G.; Zeinali, S.; Fortina, P.; Uitto, J.

Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1

2017 - BRAIN & DEVELOPMENT

Travaglini, Lorena; Aiello, Chiara; Alesi, Viola; Loddo, Sara; Novelli, Antonio; Tozzi, Giulia; Bertini, Enrico; Leuzzi, Vincenzo; Brancati, Francesco

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

2017 - AMERICAN JOURNAL OF HUMAN GENETICS

De Mori, Roberta; Romani, Marta; D'Arrigo, Stefano; Zaki, Maha S; Lorefice, Elisa; Tardivo, Silvia; Biagini, Tommaso; Stanley, Valentina; Musaev, Damir; Fluss, Joel; Micalizzi, Alessia; Nuovo, Sara; Illi, Barbara; Chiapparini, Luisa; Di Marcotullio, Lucia; Issa, Mahmoud Y; Anello, Danila; Casella, Antonella; Ginevrino, Monia; Leggins, Autumn Sa'na; Roosing, Susanne; Alfonsi, Romina; Rosati, Jessica; Schot, Rachel; Mancini, Grazia Maria Simonetta; Bertini, Enrico; Dobyns, William B; Mazza, Tommaso; Gleeson, Joseph G; Valente, ENZA MARIA

Role of CGH array in the diagnosis of autosomal recessive disease: A case of Ellis-van Creveld syndrome

2015 - PRENATAL DIAGNOSIS

D'Ambrosio, Valentina; Votino, Carmela; Cos, Teresa; Boulanger, Sebastien; Dheedene, Annelies; Jani, Jacques; Keymolen, Kathelijn