Zobrazeno 1 - 5
of 5
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
Autor:
Xu, Cheng, Messina, Andrea, Somm, Emmanuel, Miraoui, Hichem, Kinnunen, Tarja, Acierno, James, Niederländer, Nicolas J, Bouilly, Justine, Dwyer, Andrew A, Sidis, Yisrael, Cassatella, Daniele, Sykiotis, Gerasimos P, Quinton, Richard, De Geyter, Christian, Dirlewanger, Mirjam, Schwitzgebel, Valérie, Cole, Trevor R, Toogood, Andrew A, Kirk, Jeremy MW, Plummer, Lacey
Publikováno v:
EMBO Molecular Medicine; Oct2017, Vol. 9 Issue 10, p1379-1397, 19p
Autor:
Jafri, Mariam, Whitworth, James, Rattenberry, Eleanor, Vialard, Lindsey, Kilby, Gail, Kumar, Ajith V., Izatt, Louise, Lalloo, Fiona, Brennan, Paul, Cook, Jackie, Morrison, Patrick J., Canham, Natalie, Armstrong, Ruth, Brewer, Carole, Tomkins, Susan, Donaldson, Alan, Barwell, Julian, Cole, Trevor R., Atkinson, A. Brew, Aylwin, Simon
Publikováno v:
Clinical Endocrinology; Jun2013, Vol. 78 Issue 6, p898-906, 9p, 1 Chart, 4 Graphs
Autor:
De Vos, Michel, Hayward, Bruce E., Chariton, Ruth, Taylor, Graham R., Glaser, Adam W., Picton, Susan, Cole, Trevor R., Maher, Eamonn R., McKeown, Carole M. E., Mann, Jill R., Yates, John R., Baralle, Diana, Rankin, Julia, Bonthron, David T., Sheridan, Eamonn
Publikováno v:
JNCI: Journal of the National Cancer Institute; 3/1/2006, Vol. 98 Issue 5, p358-361, 4p, 1 Black and White Photograph, 2 Charts