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Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.
Bouligand J, Ghervan C, Tello JA, Brailly-Tabard S, Salenave S, Chanson P, Lombès M, Millar RP, Guiochon-Mantel A, Young J. Bouligand J, et al. N Engl J Med. 2009 Jun 25;360(26):2742-8. doi: 10.1056/NEJMoa0900136. Epub 2009 Jun 17. N Engl J Med. 2009. PMID: 19535795 Free article.
Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations.
Francou B, Bouligand J, Voican A, Amazit L, Trabado S, Fagart J, Meduri G, Brailly-Tabard S, Chanson P, Lecomte P, Guiochon-Mantel A, Young J. Francou B, et al. Among authors: bouligand j. PLoS One. 2011;6(10):e25614. doi: 10.1371/journal.pone.0025614. Epub 2011 Oct 21. PLoS One. 2011. PMID: 22031817 Free PMC article.
Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation.
Brioude F, Bouligand J, Francou B, Fagart J, Roussel R, Viengchareun S, Combettes L, Brailly-Tabard S, Lombès M, Young J, Guiochon-Mantel A. Brioude F, et al. Among authors: bouligand j. PLoS One. 2013;8(1):e53896. doi: 10.1371/journal.pone.0053896. Epub 2013 Jan 18. PLoS One. 2013. PMID: 23349759 Free PMC article.
NR5A1 (SF-1) mutations are not a major cause of primary ovarian insufficiency.
Voican A, Bachelot A, Bouligand J, Francou B, Dulon J, Lombès M, Touraine P, Guiochon-Mantel A. Voican A, et al. Among authors: bouligand j. J Clin Endocrinol Metab. 2013 May;98(5):E1017-21. doi: 10.1210/jc.2012-4111. Epub 2013 Mar 29. J Clin Endocrinol Metab. 2013. PMID: 23543655
96 results