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An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C. Bonnet C, et al. Among authors: marlin s. Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27. Eur J Hum Genet. 2016. PMID: 27460420 Free PMC article.
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
[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.
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
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
Albert S, Blons H, Jonard L, Feldmann D, Chauvin P, Loundon N, Sergent-Allaoui A, Houang M, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Dollfus H, Eliot MM, David A, Calais C, Drouin-Garraud V, Obstoy MF, Tran Ba Huy P, Lacombe D, Duriez F, Francannet C, Bitoun P, Petit C, Garabédian EN, Couderc R, Marlin S, Denoyelle F. Albert S, et al. Among authors: marlin s. Eur J Hum Genet. 2006 Jun;14(6):773-9. doi: 10.1038/sj.ejhg.5201611. Eur J Hum Genet. 2006. PMID: 16570074
205 results