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SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development.
Young J, Metay C, Bouligand J, Tou B, Francou B, Maione L, Tosca L, Sarfati J, Brioude F, Esteva B, Briand-Suleau A, Brisset S, Goossens M, Tachdjian G, Guiochon-Mantel A. Young J, et al. Among authors: francou b. Hum Reprod. 2012 May;27(5):1460-5. doi: 10.1093/humrep/des022. Epub 2012 Mar 12. Hum Reprod. 2012. PMID: 22416012
Kisspeptin restores pulsatile LH secretion in patients with neurokinin B signaling deficiencies: physiological, pathophysiological and therapeutic implications.
Young J, George JT, Tello JA, Francou B, Bouligand J, Guiochon-Mantel A, Brailly-Tabard S, Anderson RA, Millar RP. Young J, et al. Among authors: francou b. Neuroendocrinology. 2013;97(2):193-202. doi: 10.1159/000336376. Epub 2012 Feb 24. Neuroendocrinology. 2013. PMID: 22377698 Free PMC article. Clinical Trial.
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: francou b. 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: francou b. 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
Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidism.
Lambert AS, Grybek V, Francou B, Esterle L, Bertrand G, Bouligand J, Guiochon-Mantel A, Hieronimus S, Voitel D, Soskin S, Magdelaine C, Lienhardt A, Silve C, Linglart A. Lambert AS, et al. Among authors: francou b. J Clin Endocrinol Metab. 2014 Mar;99(3):E469-73. doi: 10.1210/jc.2013-3136. Epub 2014 Jan 1. J Clin Endocrinol Metab. 2014. PMID: 24423332
Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataracts.
Raymond L, Francou B, Petit F, Tosca L, Briand-Suleau A, Metay C, Martinovic J, Cordier AG, Benachi A, Pineau D, Guiochon-Mantel A, Goossens M, Tachdjian G, Brisset S. Raymond L, et al. Among authors: francou b. Eur J Med Genet. 2015 Nov;58(11):591-6. doi: 10.1016/j.ejmg.2015.09.006. Epub 2015 Sep 16. Eur J Med Genet. 2015. PMID: 26386246
45 results