Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: Gonadal Dysgenesis and DHX37[original query] |
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Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jul . McElreavey Ken, Jorgensen Anne, Eozenou Caroline, Merel Tiphanie, Bignon-Topalovic Joelle, Tan Daisylyn Senna, Houzelstein Denis, Buonocore Federica, Warr Nick, Kay Raissa G G, Peycelon Matthieu, Siffroi Jean-Pierre, Mazen Inas, Achermann John C, Shcherbak Yuliya, Leger Juliane, Sallai Agnes, Carel Jean-Claude, Martinerie Laetitia, Le Ru Romain, Conway Gerard S, Mignot Brigitte, Van Maldergem Lionel, Bertalan Rita, Globa Evgenia, Brauner Raja, Jauch Ralf, Nef Serge, Greenfield Andy, Bashamboo A |
Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum. The Journal of clinical endocrinology and metabolism 2019 Jul . da Silva Thatiana Evilen, Gomes Nathalia Lisboa, Lerário Antonio Marcondes, Keegan Catherine Elizabeth, Nishi Mirian Yumi, Carvalho Filomena Marino, Vilain Eric, Barseghyan Hayk, Martinez-Aguayo Alejandro, Forclaz María Verónica, Papazian Regina, Pedroso de Paula Leila Cristina, Costa Eduardo Corrêa, Carvalho Luciani Renata, Jorge Alexander Augusto Lima, Elias Felipe Martins, Mitchell Rod, Costa Elaine Maria Frade, Mendonca Berenice Bilharinho, Domenice Sorah |
Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2021 7 15 (4): 244-252. Zidoune Housna, Martinerie Laetitia, Tan Daisylyn S, Askari Masomeh, Rezgoune Djalila, Ladjouze Asmahane, Boukri Asma, Benelmadani Yasmina, Sifi Karima, Abadi Noureddine, Satta Dalila, Rastari Mandana, Seresht-Ahmadi Mehrshad, Bignon-Topalovic Joelle, Mazen Inas, Leger Juliane, Simon Dominique, Brauner Raja, Totonchi Mehdi, Jauch Ralf, Bashamboo Anu, McElreavey Kenne |
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development. The Journal of clinical endocrinology and metabolism 2022 2 107 (5): e1797-e1806. Gomes Nathalia Lisboa, Batista Rafael Loch, Nishi Mirian Y, Lerário Antônio Marcondes, Silva Thatiana E, de Moraes Narcizo Amanda, Benedetti Anna Flávia Figueredo, de Assis Funari Mariana Ferreira, Faria Junior José Antônio, Moraes Daniela Rodrigues, Quintão Lia Mesquita Lousada, Montenegro Luciana Ribeiro, Ferrari Maria Teresa Martins, Jorge Alexander A, Arnhold Ivo J P, Costa Elaine Maria Frade, Domenice Sorahia, Mendonca Berenice Bilharin |
DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis. Life (Basel, Switzerland) 2023 5 13 (5): . Felipe Rodrigues de Oliveira, Taís Nitsch Mazzola, Maricilda Palandi de Mello, Ana Paula Francese-Santos, Sofia Helena V de Lemos-Marini, Andrea Trevas Maciel-Guerra, Olaf Hiort, Ralf Werner, Gil Guerra-Junior, Helena Fabbri-Scall |
Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants. Case reports in pediatrics 2024 7 2024 4896940. Katia Margiotti, Francesco Libotte, Marco Fabiani, Alvaro Mesoraca, Claudio Giorlandi |
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