Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Yasmina Benelmadani"'
Autor:
Housna Zidoune, Asmahane Ladjouze, Djalila Chellat-Rezgoune, Asma Boukri, Scheher Aman Dib, Nassim Nouri, Meryem Tebibel, Karima Sifi, Noureddine Abadi, Dalila Satta, Yasmina Benelmadani, Joelle Bignon-Topalovic, Maeva El-Zaiat-Munsch, Anu Bashamboo, Ken McElreavey
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
In a majority of individuals with disorders/differences of sex development (DSD) a genetic etiology is often elusive. However, new genes causing DSD are routinely reported and using the unbiased genomic approaches, such as whole exome sequencing (WES
Externí odkaz:
https://doaj.org/article/a30672ccbf724ddaaff9d212a96814dd
Autor:
Anu Bashamboo, Mehdi Totonchi, Masomeh Askari, Dominique Simon, Joelle Bignon-Topalovic, Daisylyn Senna Tan, Raja Brauner, Dalila Satta, Noureddine Abadi, Yasmina Benelmadani, Inas Mazen, Djalila Rezgoune, Karima Sifi, Asmahane Ladjouze, Mehrshad Seresht-Ahmadi, Mandana Rastari, Juliane Léger, Ralf Jauch, Housna Zidoune, Ken McElreavey, Laetitia Martinerie, Asma Boukri
Publikováno v:
Sexual Development
Sexual Development, 2021, 15 (4), pp.244-252. ⟨10.1159/000515924⟩
Sexual Development, 2021, 15 (4), pp.244-252. ⟨10.1159/000515924⟩
Missense variants in the RNA-helicase DHX37 are associated with either 46,XY gonadal dysgenesis or 46,XY testicular regression syndrome (TRS). DHX37 is required for ribosome biogenesis, and this subgroup of XY DSD is a new human ribosomopathy. In a c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06bc2bd44ba1a8418d509c5cf2c5cd40
https://doi.org/10.1159/000515924
https://doi.org/10.1159/000515924