Denoyelle F - Search Results

1

Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS.

Lopez E, Berenguer M, Tingaud-Sequeira A, Marlin S, Toutain A, Denoyelle F, Picard A, Charron S, Mathieu G, de Belvalet H, Arveiler B, Babin PJ, Lacombe D, Rooryck C. Lopez E, et al. Among authors: denoyelle f. J Med Genet. 2016 Nov;53(11):752-760. doi: 10.1136/jmedgenet-2016-103774. Epub 2016 Jun 29. J Med Genet. 2016. PMID: 27358179

2

A particular case of deafness-oligodontia syndrome.

Marlin S, Denoyelle F, Busquet D, Garabedian N, Petit C. Marlin S, et al. Among authors: denoyelle f. Int J Pediatr Otorhinolaryngol. 1998 Jun 1;44(1):63-9. doi: 10.1016/s0165-5876(98)00029-9. Int J Pediatr Otorhinolaryngol. 1998. PMID: 9720683

3

[Etiological diagnosis of sensorineural deafness in children: a year-long review of genetic counseling for deaf people].

Marlin S, Denoyelle F, Garabédian EN, Petit C. Marlin S, et al. Among authors: denoyelle f. Ann Otolaryngol Chir Cervicofac. 1998 Feb;115(1):3-8. Ann Otolaryngol Chir Cervicofac. 1998. PMID: 9765703 French.

4

Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.

Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabédian EN, Petit C. Denoyelle F, et al. Lancet. 1999 Apr 17;353(9161):1298-303. doi: 10.1016/S0140-6736(98)11071-1. Lancet. 1999. PMID: 10218527

5

Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.

Marlin S, Blanchard S, Slim R, Lacombe D, Denoyelle F, Alessandri JL, Calzolari E, Drouin-Garraud V, Ferraz FG, Fourmaintraux A, Philip N, Toublanc JE, Petit C. Marlin S, et al. Among authors: denoyelle f. Hum Mutat. 1999;14(5):377-86. doi: 10.1002/(SICI)1098-1004(199911)14:5<377::AID-HUMU3>3.0.CO;2-A. Hum Mutat. 1999. PMID: 10533063

6

[Hereditary sensorineural deafness].

Denoyelle F, Marlin S, Petit C, Garabédian EN. Denoyelle F, et al. Rev Prat. 2000 Jan 15;50(2):146-9. Rev Prat. 2000. PMID: 10737085 French.

7

Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.

Marlin S, Garabédian EN, Roger G, Moatti L, Matha N, Lewin P, Petit C, Denoyelle F. Marlin S, et al. Among authors: denoyelle f. Arch Otolaryngol Head Neck Surg. 2001 Aug;127(8):927-33. doi: 10.1001/archotol.127.8.927. Arch Otolaryngol Head Neck Surg. 2001. PMID: 11493200

8

Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor.

Chapiro E, Feldmann D, Denoyelle F, Sternberg D, Jardel C, Eliot MM, Bouccara D, Weil D, Garabédian EN, Couderc R, Petit C, Marlin S. Chapiro E, et al. Among authors: denoyelle f. Eur J Hum Genet. 2002 Dec;10(12):851-6. doi: 10.1038/sj.ejhg.5200894. Eur J Hum Genet. 2002. PMID: 12461693

9

Usher syndrome and cochlear implantation.

Loundon N, Marlin S, Busquet D, Denoyelle F, Roger G, Renaud F, Garabedian EN. Loundon N, et al. Among authors: denoyelle f. Otol Neurotol. 2003 Mar;24(2):216-21. doi: 10.1097/00129492-200303000-00015. Otol Neurotol. 2003. PMID: 12621335

10

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

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