Pubblicazioni

Common atrium/atrioventricular canal defect and postaxial polydactyly: a mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene

2020 - HUMAN MUTATION

Piceci-Sparascio, Francesca; Palencia-Campos, Adrian; Soto-Bielicka, Patricia; Danzi, Angela; Guida, Valentina; Rosati, Jessica; Caparros-Martin, Jose Antonio; Torrente, Isabella; Cecilia D'Asdia, Maria; Versacci, Paolo; Briuglia, Silvana; Lapunzina, Pablo; Tartaglia, Marco; Marino, Bruno; Digilio, Maria Cristina; Ruiz-Perez, Victor L; De Luca, Alessandro

Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene

2020 - HUMAN MUTATION

Piceci-Sparascio, F.; Palencia-Campos, A.; Soto-Bielicka, P.; D'Anzi, A.; Guida, V.; Rosati, J.; Caparros-Martin, J. A.; Torrente, I.; D'Asdia, M. C.; Versacci, P.; Briuglia, S.; Lapunzina, P.; Tartaglia, M.; Marino, B.; Digilio, M. C.; Ruiz-Perez, V. L.; De Luca, A.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276 and p.Lys1423. genotype-phenotype study in neurofibromatosis type 1

2020 - HUMAN MUTATION

Koczkowska, M; Callens, T; Yunjia Chen, 1; Alicia Gomes, 1; Alesha, D Hicks 1; Angela Sharp, 1; Eric Johns, 1; Kim Armfield Uhas, 2; Linlea Armstrong, 3; Katherine Armstrong Bosanko, 4; Dusica Babovic-Vuksanovic, 5; Laura Baker, 6; Donald, G Basel 7; Mario Bengala, 8; James, T Bennett 9; Chelsea Chambers, 10; Lola, K Clarkson 11; Maurizio Clementi, 12; Fanny, M CortÃ©s 13; Mitch Cunningham, 14; M Daniela D'Agostino, 15; Martin, B Delatycki 16; Maria, C Digilio 17; Laura Dosa, 18; Silvia Esposito, 19; Stephanie Fox, 15; Mary-Louise Freckmann, 20; Christine Fauth, 21; Teresa Giugliano, 22; Giustini, S; Allison Goetsch, 24; Yael Goldberg, 25; Robert, S Greenwood 26; Cristin Griffis, 7; Karen, W Gripp 6; Punita Gupta, 27; Eric Haan, 28; Rachel, K Hachen 29; Tamara, L Haygarth 30; ConcepciÃ³n HernÃ¡ndez-Chico, 31; Katelyn Hodge, 32; Robert, J Hopkin 33; Louanne Hudgins, 34; Sandra Janssens, 35; Kory Keller, 36; Geraldine Kelly-Mancuso, 33; Aaina Kochhar, 37; Bruce, R Korf 1; Andrea, M Lewis 38; Jan Liebelt, 39; Angie Lichty, 11; Robert, H Listernick 24; Michael, J Lyons 11; Isabelle Maystadt, 40; Mayra Martinez Ojeda, 41; Carey McDougall, 42; Lesley, K McGregor 39; Daniela Melis, 43; Nancy Mendelsohn, 44; Malgorzata J, M Nowaczyk 45; June Ortenberg, 15; Karin Panzer, 46; John, G Pappas 47; Mary Ella Pierpont, 48; Giulio Piluso, 22; Valentina Pinna, 49; Eniko, K Pivnick 50; Dinel, A Pond 44; Cynthia, M Powell 51; Caleb Rogers, 36; Noa Ruhrman Shahar, 25; S Lane Rutledge, 1; Veronica Saletti, 19; Sarah, A Sandaradura 52; Claudia Santoro, 53; Ulrich, A Schatz 21; Allison Schreiber, 54; Daryl, A Scott 38; Elizabeth, A Sellars 4; Ruth Sheffer, 55; Elizabeth Siqveland, 44; John, M Slopis 56; Rosemarie Smith, 57; Alberto Spalice, 58; David, W Stockton 14; Haley Streff, 38; Amy Theos, 59; Gail, E Tomlinson 60; Grace Tran, 61; Pamela, L Trapane 62; Eva Trevisson, 12; Nicole, J Ullrich 63; Jenneke Van den Ende, 64; Samantha, A Schrier Vergano 65; Stephanie, E Wallace 9; Michael, F Wangler 38; David, D Weaver 32; Kaleb, H Yohay 66; Elaine Zackai, 42; Jonathan Zonana, 36; Vickie Zurcher, 54; Kathleen B, M Claes 35; Marica Eoli, 67; Yolanda Martin, 31; Katharina Wimmer, 21; Alessandro De Luca, 49; Eric Legius, 68; Ludwine, M Messiaen 1