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108 results

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Page 1
Novel CFTR mutations in black cystic fibrosis patients.
Feuillet-Fieux MN, Ferrec M, Gigarel N, Thuillier L, Sermet I, Steffann J, Lenoir G, Bonnefont JP. Feuillet-Fieux MN, et al. Among authors: steffann j. Clin Genet. 2004 Apr;65(4):284-7. doi: 10.1111/j.1399-0004.2004.00230.x. Clin Genet. 2004. PMID: 15025720
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: steffann j. 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
MECP2 is highly mutated in X-linked mental retardation.
Couvert P, Bienvenu T, Aquaviva C, Poirier K, Moraine C, Gendrot C, Verloes A, Andrès C, Le Fevre AC, Souville I, Steffann J, des Portes V, Ropers HH, Yntema HG, Fryns JP, Briault S, Chelly J, Cherif B. Couvert P, et al. Among authors: steffann j. Hum Mol Genet. 2001 Apr 15;10(9):941-6. doi: 10.1093/hmg/10.9.941. Hum Mol Genet. 2001. PMID: 11309367
Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans.
Gigarel N, Hesters L, Samuels DC, Monnot S, Burlet P, Kerbrat V, Lamazou F, Benachi A, Frydman R, Feingold J, Rotig A, Munnich A, Bonnefont JP, Frydman N, Steffann J. Gigarel N, et al. Among authors: steffann j. Am J Hum Genet. 2011 Apr 8;88(4):494-8. doi: 10.1016/j.ajhg.2011.03.010. Am J Hum Genet. 2011. PMID: 21473984 Free PMC article.
Unique subungueal keratoacanthoma revealing incontinentia pigmenti.
Ferneiny M, Hadj-Rabia S, Regnier S, Ortonne N, Smahi A, Steffann J, Bonnefont JP, Fraitag S, Chosidow O, Bodemer C. Ferneiny M, et al. Among authors: steffann j. J Eur Acad Dermatol Venereol. 2016 Aug;30(8):1401-3. doi: 10.1111/jdv.13245. Epub 2015 Sep 21. J Eur Acad Dermatol Venereol. 2016. PMID: 26387562 No abstract available.
108 results