Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia

por Mellone, Simona, Bertelli, Enrica, Roviglione, Barbara, Vurchio, Denise, Ronzani, Sara, Secco, Andrea, Felici, Enrico, Strozzi, Mariachiara Martina, Schena, Federico, Giordano, Mara
Publicado 2022

Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri‐Weill dyschondrosteosis

por Fanelli, Antonella, Vannelli, Silvia, Babu, Deepak, Mellone, Simona, Cucci, Alessia, Monzani, Alice, Al Essa, Wael, Secco, Andrea, Follenzi, Antonia, Bellone, Simonetta, Prodam, Flavia, Giordano, Mara
Publicado 2021

Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly

por Elli, Francesca Marta, Mattinzoli, Deborah, Lucca, Camilla, Piu, Matteo, Maffini, Maria A., Costanza, Jole, Fontana, Laura, Santaniello, Carlo, Forino, Concetta, Milani, Donatella, Bonati, Maria Teresa, Secco, Andrea, Gastaldi, Roberto, Alfieri, Carlo, Messa, Piergiorgio, Miozzo, Monica, Arosio, Maura, Mantovani, Giovanna
Publicado 2022

Real-life long-term efficacy and safety of recombinant human growth hormone therapy in children with short stature homeobox-containing deficiency

por Bruzzi, Patrizia, Vannelli, Silvia, Scarano, Emanuela, Di Iorgi, Natascia, Parpagnoli, Maria, Salerno, MariaCarolina, Pitea, Marco, Elisabeth Street, Maria, Secco, Andrea, Andrea Trettene, Adolfo, Wasniewska, Malgorzata, Corciulo, Nicola, Tornese, Gianluca, Felicia Faienza, Maria, Delvecchio, Maurizio, Filomena Madeo, Simona, Iughetti, Lorenzo
Publicado 2023