Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Trevor R. Cole"'
Autor:
Cheng Xu, Andrea Messina, Emmanuel Somm, Hichem Miraoui, Tarja Kinnunen, James Acierno, Nicolas J Niederländer, Justine Bouilly, Andrew A Dwyer, Yisrael Sidis, Daniele Cassatella, Gerasimos P Sykiotis, Richard Quinton, Christian De Geyter, Mirjam Dirlewanger, Valérie Schwitzgebel, Trevor R Cole, Andrew A Toogood, Jeremy MW Kirk, Lacey Plummer, Urs Albrecht, William F Crowley, Moosa Mohammadi, Manuel Tena‐Sempere, Vincent Prevot, Nelly Pitteloud
Publikováno v:
EMBO Molecular Medicine, Vol 9, Iss 10, Pp 1379-1397 (2017)
Abstract Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic form of isolated gonadotropin‐releasing hormone (GnRH) deficiency caused by mutations in > 30 genes. Fibroblast growth factor receptor 1 (FGFR1) is the most frequently mutate
Externí odkaz:
https://doaj.org/article/7a254787799e445f8c77305b0142a29e
Autor:
Silvia Parajes, Lourdes Loidi, Nicole Reisch, Vivek Dhir, Ian T. Rose, Rainer Hampel, Marcus Quinkler, Gerard S. Conway, Lidia Castro-Feijóo, David Araujo-Vilar, Manuel Pombo, Fernando Dominguez, Emma L. Williams, Trevor R. Cole, Jeremy M. Kirk, Elke Kaminsky, Gill Rumsby, Wiebke Arlt, Nils Krone
Publikováno v:
Endocrinology. 151:839-839
Context: Steroid 11β-hydroxylase (CYP11B1) deficiency (11OHD) is the second most common form of congenital adrenal hyperplasia (CAH). Cases of nonclassic 11OHD are rare compared with the incidence of nonclassic 21-hydroxylase deficiency. Objective:
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fdf2b03c0f1bf8f45db77fe34ac21bc7
https://doi.org/10.1210/endo.151.2.9999
https://doi.org/10.1210/endo.151.2.9999