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GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G. Snoeckx RL, et al. Among authors: denoyelle f. Am J Hum Genet. 2005 Dec;77(6):945-57. doi: 10.1086/497996. Epub 2005 Oct 19. Am J Hum Genet. 2005. PMID: 16380907 Free PMC article.
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.
Hilgert N, Huentelman MJ, Thorburn AQ, Fransen E, Dieltjens N, Mueller-Malesinska M, Pollak A, Skorka A, Waligora J, Ploski R, Castorina P, Primignani P, Ambrosetti U, Murgia A, Orzan E, Pandya A, Arnos K, Norris V, Seeman P, Janousek P, Feldmann D, Marlin S, Denoyelle F, Nishimura CJ, Janecke A, Nekahm-Heis D, Martini A, Mennucci E, Tóth T, Sziklai I, Del Castillo I, Moreno F, Petersen MB, Iliadou V, Tekin M, Incesulu A, Nowakowska E, Bal J, Van de Heyning P, Roux AF, Blanchet C, Goizet C, Lancelot G, Fialho G, Caria H, Liu XZ, Xiaomei O, Govaerts P, Grønskov K, Hostmark K, Frei K, Dhooge I, Vlaeminck S, Kunstmann E, Van Laer L, Smith RJ, Van Camp G. Hilgert N, et al. Among authors: denoyelle f. Eur J Hum Genet. 2009 Apr;17(4):517-24. doi: 10.1038/ejhg.2008.201. Epub 2008 Nov 5. Eur J Hum Genet. 2009. PMID: 18985073 Free PMC article.
A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss.
Feldmann D, Le Maréchal C, Jonard L, Thierry P, Czajka C, Couderc R, Ferec C, Denoyelle F, Marlin S, Fellmann F. Feldmann D, et al. Among authors: denoyelle f. Eur J Med Genet. 2009 Jul-Aug;52(4):195-200. doi: 10.1016/j.ejmg.2008.11.006. Epub 2008 Dec 13. Eur J Med Genet. 2009. PMID: 19101659
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.
Feldmann D, Denoyelle F, Loundon N, Weil D, Garabedian EN, Couderc R, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Ferrec C, Drouin-Garraud V, Obstoy MF, Moati L, Petit C, Marlin S. Feldmann D, et al. Among authors: denoyelle f. Eur J Hum Genet. 2004 Apr;12(4):279-84. doi: 10.1038/sj.ejhg.5201147. Eur J Hum Genet. 2004. PMID: 14694360
DFNA3.
Denoyelle F, Lina-Granade G, Petit C. Denoyelle F, et al. Adv Otorhinolaryngol. 2002;61:47-52. doi: 10.1159/000066803. Adv Otorhinolaryngol. 2002. PMID: 12408062 No abstract available.
Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis.
Feldmann D, Denoyelle F, Chauvin P, Garabédian EN, Couderc R, Odent S, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Le Maréchal C, Dollfus H, Eliot MM, Delaunoy JP, David A, Calais C, Drouin-Garraud V, Obstoy MF, Bouccara D, Sterkers O, Huy PT, Goizet C, Duriez F, Fellmann F, Hélias J, Vigneron J, Montaut B, Lewin P, Petit C, Marlin S. Feldmann D, et al. Among authors: denoyelle f. Am J Med Genet A. 2004 Jun 15;127A(3):263-7. doi: 10.1002/ajmg.a.20588. Am J Med Genet A. 2004. PMID: 15150777
[Genetic aspects of congenital sensorineural hearing loss].
Blanchard M, Thierry B, Marlin S, Denoyelle F. Blanchard M, et al. Among authors: denoyelle f. Arch Pediatr. 2012 Aug;19(8):886-9. doi: 10.1016/j.arcped.2012.05.015. Epub 2012 Jul 4. Arch Pediatr. 2012. PMID: 22770557 French.
221 results