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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. PLoS One. 2013;8(1):e53896. doi: 10.1371/journal.pone.0053896. Epub 2013 Jan 18. PLoS One. 2013. PMID: 23349759 Free PMC article.
Imprinted disorders and growth.
Giabicani É, Brioude F, Le Bouc Y, Netchine I. Giabicani É, et al. Among authors: brioude f. Ann Endocrinol (Paris). 2017 Jun;78(2):112-113. doi: 10.1016/j.ando.2017.04.010. Epub 2017 May 4. Ann Endocrinol (Paris). 2017. PMID: 28478949
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.
Legendre M, Rodriguez-Ballesteros M, Rossi M, Abadie V, Amiel J, Revencu N, Blanchet P, Brioude F, Delrue MA, Doubaj Y, Sefiani A, Francannet C, Holder-Espinasse M, Jouk PS, Julia S, Melki J, Mur S, Naudion S, Fabre-Teste J, Busa T, Stamm S, Lyonnet S, Attie-Bitach T, Kitzis A, Gilbert-Dussardier B, Bilan F. Legendre M, et al. Among authors: brioude f. Eur J Hum Genet. 2018 Feb;26(2):287-292. doi: 10.1038/s41431-017-0007-0. Epub 2017 Dec 18. Eur J Hum Genet. 2018. PMID: 29255276 Free PMC article.
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: brioude f. Hum Reprod. 2012 May;27(5):1460-5. doi: 10.1093/humrep/des022. Epub 2012 Mar 12. Hum Reprod. 2012. PMID: 22416012
59 results