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Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration.
Philibert P, Leprieur E, Zenaty D, Thibaud E, Polak M, Frances AM, Lespinasse J, Raingeard I, Servant N, Audran F, Paris F, Sultan C. Philibert P, et al. Among authors: audran f. Reprod Biol Endocrinol. 2010 Mar 19;8:28. doi: 10.1186/1477-7827-8-28. Reprod Biol Endocrinol. 2010. PMID: 20302644 Free PMC article.
Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations.
Philibert P, Audran F, Pienkowski C, Morange I, Kohler B, Flori E, Heinrich C, Dacou-Voutetakis C, Joseph MG, Guedj AM, Journel H, Hecart-Bruna AC, Khotchali I, Ten S, Bouchard P, Paris F, Sultan C. Philibert P, et al. Among authors: audran f. Fertil Steril. 2010 Jul;94(2):472-6. doi: 10.1016/j.fertnstert.2009.03.057. Epub 2009 May 21. Fertil Steril. 2010. PMID: 19463997 Free article.
Phenotypic variation of SF1 gene mutations.
Philibert P, Paris F, Audran F, Kalfa N, Polak M, Thibaud E, Pinto G, Houang M, Zenaty D, Leger J, Mas JC, Pienkowski C, Einaudi S, Damiani D, Ten S, Sinha S, Poulat F, Sultan C. Philibert P, et al. Among authors: audran f. Adv Exp Med Biol. 2011;707:67-72. doi: 10.1007/978-1-4419-8002-1_16. Adv Exp Med Biol. 2011. PMID: 21691958 No abstract available.
Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndrome.
Kalfa N, Philibert P, Werner R, Audran F, Bashamboo A, Lehors H, Haddad M, Guys JM, Reynaud R, Alessandrini P, Wagner K, Kurzenne JY, Bastiani F, Bréaud J, Valla JS, Lacombe GM, Orsini M, Daures JP, Hiort O, Paris F, McElreavey K, Sultan C. Kalfa N, et al. Among authors: audran f. PLoS One. 2013 Apr 30;8(4):e61824. doi: 10.1371/journal.pone.0061824. Print 2013. PLoS One. 2013. PMID: 23637914 Free PMC article.
Isolated 'idiopathic' micropenis: hidden genetic defects?
Paris F, De Ferran K, Bhangoo A, Ten S, Lahlou N, Audran F, Servant N, Poulat F, Philibert P, Sultan C. Paris F, et al. Among authors: audran f. Int J Androl. 2011 Dec;34(6 Pt 2):e518-25. doi: 10.1111/j.1365-2605.2010.01135.x. Epub 2011 Apr 28. Int J Androl. 2011. PMID: 21535007
36 results