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Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.
Ratbi I, Legendre M, Niel F, Martin J, Soufir JC, Izard V, Costes B, Costa C, Goossens M, Girodon E. Ratbi I, et al. Among authors: soufir jc. Hum Reprod. 2007 May;22(5):1285-91. doi: 10.1093/humrep/dem024. Epub 2007 Feb 28. Hum Reprod. 2007. PMID: 17329263
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.
Thauvin-Robinet C, Munck A, Huet F, de Becdelièvre A, Jimenez C, Lalau G, Gautier E, Rollet J, Flori J, Nové-Josserand R, Soufir JC, Haloun A, Hubert D, Houssin E, Bellis G, Rault G, David A, Janny L, Chiron R, Rives N, Hairion D, Collignon P, Valeri A, Karsenty G, Rossi A, Audrézet MP, Férec C, Leclerc J, Georges Md, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Cheillan D, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Izard V, Steffann J, Viville S, Costa C, Drouineaud V, Fauque P, Binquet C, Bonithon-Kopp C, Morris MA, Faivre L, Goossens M, Roussey M, Girodon E; collaborating working group on p.Arg117His. Thauvin-Robinet C, et al. Among authors: soufir jc. J Med Genet. 2013 Apr;50(4):220-7. doi: 10.1136/jmedgenet-2012-101427. Epub 2013 Feb 1. J Med Genet. 2013. PMID: 23378603
[Phyllodes tumour of the prostate in a 28-year-old man].
Mawlawi H, Ould Heamane DS, Ferlicot S, Ples R, Rocher L, Giuliano F, Izard V, Soufir JC, Droupy S, Benoit G. Mawlawi H, et al. Among authors: soufir jc. Prog Urol. 2007 Nov;17(7):1379-81. doi: 10.1016/s1166-7087(07)78582-2. Prog Urol. 2007. PMID: 18271427 Review. French.
Normal spermatogenesis in a man with mutant luteinizing hormone.
Achard C, Courtillot C, Lahuna O, Méduri G, Soufir JC, Lière P, Bachelot A, Benyounes H, Schumacher M, Kuttenn F, Touraine P, Misrahi M. Achard C, et al. Among authors: soufir jc. N Engl J Med. 2009 Nov 5;361(19):1856-63. doi: 10.1056/NEJMoa0805792. N Engl J Med. 2009. PMID: 19890128 Free article.
Catalase activity in human spermatozoa and seminal plasma.
Jeulin C, Soufir JC, Weber P, Laval-Martin D, Calvayrac R. Jeulin C, et al. Among authors: soufir jc. Gamete Res. 1989 Oct;24(2):185-96. doi: 10.1002/mrd.1120240206. Gamete Res. 1989. PMID: 2793057
50 results