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205 results

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Page 1
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
Mercati O, Abi Warde MT, Lina-Granade G, Rio M, Heide S, de Lonlay P, Ceballos-Picot I, Robert MP, Couloigner V, Beltrand J, Boddaert N, Rodriguez D, Rubinato E, Lapierre JM, Merlette C, Sanquer S, Rötig A, Prokisch H, Lyonnet S, Loundon N, Kaplan J, Bonnefont JP, Munnich A, Besmond C, Jonard L, Marlin S. Mercati O, et al. Among authors: marlin s. Eur J Med Genet. 2020 Nov;63(11):104033. doi: 10.1016/j.ejmg.2020.104033. Epub 2020 Aug 8. Eur J Med Genet. 2020. PMID: 32781272 Review.
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: marlin s. Otol Neurotol. 2003 Mar;24(2):216-21. doi: 10.1097/00129492-200303000-00015. Otol Neurotol. 2003. PMID: 12621335
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: marlin s. Eur J Hum Genet. 2004 Apr;12(4):279-84. doi: 10.1038/sj.ejhg.5201147. Eur J Hum Genet. 2004. PMID: 14694360
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
Blons H, Feldmann D, Duval V, Messaz O, Denoyelle F, Loundon N, Sergout-Allaoui A, Houang M, Duriez F, Lacombe D, Delobel B, Leman J, Catros H, Journel H, Drouin-Garraud V, Obstoy MF, Toutain A, Oden S, Toublanc JE, Couderc R, Petit C, Garabédian EN, Marlin S. Blons H, et al. Among authors: marlin s. Clin Genet. 2004 Oct;66(4):333-40. doi: 10.1111/j.1399-0004.2004.00296.x. Clin Genet. 2004. PMID: 15355436
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.
Marlin S, Feldmann D, Blons H, Loundon N, Rouillon I, Albert S, Chauvin P, Garabédian EN, Couderc R, Odent S, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Lemarechal C, Dollfus H, Eliot MM, Delaunoy JL, David A, Calais C, Drouin-Garraud V, Obstoy MF, Goizet C, Duriez F, Fellmann F, Hélias J, Vigneron J, Montaut B, Matin-Coignard D, Faivre L, Baumann C, Lewin P, Petit C, Denoyelle F. Marlin S, et al. Arch Otolaryngol Head Neck Surg. 2005 Jun;131(6):481-7. doi: 10.1001/archotol.131.6.481. Arch Otolaryngol Head Neck Surg. 2005. PMID: 15967879
Auditory neuropathy or endocochlear hearing loss?
Loundon N, Marcolla A, Roux I, Rouillon I, Denoyelle F, Feldmann D, Marlin S, Garabedian EN. Loundon N, et al. Among authors: marlin s. Otol Neurotol. 2005 Jul;26(4):748-54. doi: 10.1097/01.mao.0000169044.63970.4a. Otol Neurotol. 2005. PMID: 16015179
Results of cochlear implantation in two children with mutations in the OTOF gene.
Rouillon I, Marcolla A, Roux I, Marlin S, Feldmann D, Couderc R, Jonard L, Petit C, Denoyelle F, Garabédian EN, Loundon N. Rouillon I, et al. Among authors: marlin s. Int J Pediatr Otorhinolaryngol. 2006 Apr;70(4):689-96. doi: 10.1016/j.ijporl.2005.09.006. Epub 2005 Oct 13. Int J Pediatr Otorhinolaryngol. 2006. PMID: 16226319
205 results