Listado de Publicaciones Científicas del año 2024
List of Scientific Publications 2024
Romina P. Grinspon. Adverse Impact of Supernumerary X Chromosome on Anthropometric, Endocrinological, and Metabolic Parameters and Cardiac Function in Males. The Journal of Clinical Endocrinology & Metabolism, 2024, 00, 1–2.
⇒ https://doi.org/10.1210/clinem/dgae188
Lourdes Correa Brito, Ana Keselman, Florencia Villegas, Paula Scaglia, María Esnaola Azcoiti, Sebastián Castro, Nora Sanguineti, Agustín Izquierdo, Marianela Maier, Ignacio Bergadá, Claudia Arberas, Rodolfo A. Rey and María Gabriela Ropelato. Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen–Kolk syndrome. Front. Genet. 15:1354715.
⇒ https://doi.org/10.3389/fgene.2024.1354715
Rodolfo A. Rey and Romina P. Grinspon. Anti-Müllerian hormone, testicular descent and cryptorchidism. Front. Endocrinol. 15:1361032.
⇒ https://doi.org/10.3389/fendo.2024.1361032
Rodolfo A. Rey. Cryptorchidism Is Frequently Associated With Testicular Dysfunction. Journal of the Endocrine Society, 2024, 8, 1–2.
⇒ https://doi.org/10.1210/jendso/bvae025
Laurens Hannes, Marta Atzori, Alice Goldenberg, Jesús Argente, Tania Attie-Bitach, Jeanne Amiel, Catia Attanasio, Débora G. Braslavsky, Ange-Line Bruel, Mireille Castanet, Christe le Dubourg, An Jacobs, Stanislas Lyonnet, Julian Martinez-Mayer, María Inés Pérez Millán, Nunziana Pezzella, Elise Pelgrims, Mio Aerden, Marijke Bauters, Anne Rochtus, Paula Scaglia, Ann Swillen, Alejandro Sifrim, Roberta Tammaro, Frederic Tran Mau-Them, Sylvie Odent, Christel Thauvin-Robinet, Brunella Franco, Jeroen Breckpot. Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome. Genetics in Medicine (2024) 26, 101059.
⇒ https://doi.org/10.1016/j.gim.2023.101059