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Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.
Acierno JS, Xu C, Papadakis GE, Niederländer NJ, Rademaker JD, Meylan J, Messina A, Kolesinska Z, Quinton R, Lang-Muritano M, Bartholdi D, Halperin I, De Geyter C, Bouligand J, Bartoloni L, Young J, Santoni FA, Pitteloud N. Acierno JS, et al. Among authors: bouligand j. Genet Med. 2020 Nov;22(11):1759-1767. doi: 10.1038/s41436-020-0896-0. Epub 2020 Jul 29. Genet Med. 2020. PMID: 32724172 Free article.
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.
[GNRH1 mutation in familial hypogonadotropic hypogonadism].
Bouligand J, Guiochon-Mantel A, Young J. Bouligand J, et al. Med Sci (Paris). 2009 Oct;25(10):791-3. doi: 10.1051/medsci/20092510791. Med Sci (Paris). 2009. PMID: 19849976 Free article. French. No abstract available.
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.
96 results