Marlin S - Search Results

1

Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!

Marlin S, Feldmann D, Nguyen Y, Rouillon I, Loundon N, Jonard L, Bonnet C, Couderc R, Garabedian EN, Petit C, Denoyelle F. Marlin S, et al. Biochem Biophys Res Commun. 2010 Apr 9;394(3):737-42. doi: 10.1016/j.bbrc.2010.03.062. Epub 2010 Mar 16. Biochem Biophys Res Commun. 2010. PMID: 20230791

2

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.

Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl HH, Middleton A, Houseman MJ, Dodé C, Marlin S, Boulila-ElGaïed A, Grati M, Ayadi H, BenArab S, Bitoun P, Lina-Granade G, Godet J, Mustapha M, Loiselet J, El-Zir E, Aubois A, Joannard A, Levilliers J, Garabédian EN, Mueller RF, Gardner RJ, Petit C, et al. Denoyelle F, et al. Among authors: marlin s. Hum Mol Genet. 1997 Nov;6(12):2173-7. doi: 10.1093/hmg/6.12.2173. Hum Mol Genet. 1997. PMID: 9336442

3

A particular case of deafness-oligodontia syndrome.

Marlin S, Denoyelle F, Busquet D, Garabedian N, Petit C. Marlin S, et al. 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

4

[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. Ann Otolaryngol Chir Cervicofac. 1998 Feb;115(1):3-8. Ann Otolaryngol Chir Cervicofac. 1998. PMID: 9765703 French.

5

Two cases of Townes-Brocks syndrome with previously undescribed anomalies.

Marlin S, Toublanc JE, Petit C. Marlin S, et al. Clin Dysmorphol. 1998 Oct;7(4):295-8. doi: 10.1097/00019605-199810000-00011. Clin Dysmorphol. 1998. PMID: 9823498

6

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. Among authors: marlin s. Lancet. 1999 Apr 17;353(9161):1298-303. doi: 10.1016/S0140-6736(98)11071-1. Lancet. 1999. PMID: 10218527

7

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. 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

8

[Hereditary sensorineural deafness].

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

9

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. 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

10

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: marlin s. Eur J Hum Genet. 2002 Dec;10(12):851-6. doi: 10.1038/sj.ejhg.5200894. Eur J Hum Genet. 2002. PMID: 12461693

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