Modamio-Høybjør S - Search Results

1

DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23.

Moreno-Pelayo MA, Modamio-Høybjør S, Mencía A, del Castillo I, Chardenoux S, Fernández-Burriel M, Lathrop M, Petit C, Moreno F. Moreno-Pelayo MA, et al. J Med Genet. 2003 Nov;40(11):832-6. doi: 10.1136/jmg.40.11.832. J Med Genet. 2003. PMID: 14627674 Free PMC article. No abstract available.

2

Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

Migliosi V, Modamio-Høybjør S, Moreno-Pelayo MA, Rodríguez-Ballesteros M, Villamar M, Tellería D, Menéndez I, Moreno F, Del Castillo I. Migliosi V, et al. J Med Genet. 2002 Jul;39(7):502-6. doi: 10.1136/jmg.39.7.502. J Med Genet. 2002. PMID: 12114484 Free PMC article. No abstract available.

3

A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29.

Modamio-Høybjør S, Moreno-Pelayo MA, Mencía A, del Castillo I, Chardenoux S, Armenta D, Lathrop M, Petit C, Moreno F. Modamio-Høybjør S, et al. Hum Genet. 2003 Jan;112(1):24-8. doi: 10.1007/s00439-002-0836-x. Epub 2002 Oct 16. Hum Genet. 2003. PMID: 12483295

4

A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci.

Modamio-Høybjør S, Moreno-Pelayo MA, Mencía A, del Castillo I, Chardenoux S, Morais D, Lathrop M, Petit C, Moreno F. Modamio-Høybjør S, et al. J Med Genet. 2004 Feb;41(2):e14. doi: 10.1136/jmg.2003.012500. J Med Genet. 2004. PMID: 14757864 Free PMC article. No abstract available.

5

[Prevalence of the A1555G mutation in the mitochondrial DNA in patients with cochlear or vestibular damage due to aminoglycoside-induced ototoxicity].

Gallo-Terán J, Arellano B, Morales-Angulo C, Modamio-Høybjør S, Moreno-Pelayo MA, Ramírez-Camacho R, del Castillo I, Moreno F. Gallo-Terán J, et al. Acta Otorrinolaringol Esp. 2004 May;55(5):212-7. doi: 10.1016/s0001-6519(04)78511-8. Acta Otorrinolaringol Esp. 2004. PMID: 15461317 Free article. Spanish.

6

A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss.

Modamio-Hoybjor S, Mencia A, Goodyear R, del Castillo I, Richardson G, Moreno F, Moreno-Pelayo MA. Modamio-Hoybjor S, et al. Am J Hum Genet. 2007 Jun;80(6):1076-89. doi: 10.1086/518311. Epub 2007 Apr 24. Am J Hum Genet. 2007. PMID: 17503326 Free PMC article.

7

A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression.

Mencía A, González-Nieto D, Modamio-Høybjør S, Etxeberría A, Aránguez G, Salvador N, Del Castillo I, Villarroel A, Moreno F, Barrio L, Moreno-Pelayo MA. Mencía A, et al. Hum Genet. 2008 Feb;123(1):41-53. doi: 10.1007/s00439-007-0447-7. Epub 2007 Nov 21. Hum Genet. 2008. PMID: 18030493

8

Characterization of a spontaneous, recessive, missense mutation arising in the Tecta gene.

Moreno-Pelayo MA, Goodyear RJ, Mencía A, Modamio-Høybjør S, Legan PK, Olavarrieta L, Moreno F, Richardson GP. Moreno-Pelayo MA, et al. J Assoc Res Otolaryngol. 2008 Jun;9(2):202-14. doi: 10.1007/s10162-008-0116-0. Epub 2008 May 2. J Assoc Res Otolaryngol. 2008. PMID: 18452040 Free PMC article.

9

Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.

Mencía A, Modamio-Høybjør S, Redshaw N, Morín M, Mayo-Merino F, Olavarrieta L, Aguirre LA, del Castillo I, Steel KP, Dalmay T, Moreno F, Moreno-Pelayo MA. Mencía A, et al. Nat Genet. 2009 May;41(5):609-13. doi: 10.1038/ng.355. Epub 2009 Apr 12. Nat Genet. 2009. PMID: 19363479

10

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.

Morín M, Bryan KE, Mayo-Merino F, Goodyear R, Mencía A, Modamio-Høybjør S, del Castillo I, Cabalka JM, Richardson G, Moreno F, Rubenstein PA, Moreno-Pelayo MA. Morín M, et al. Hum Mol Genet. 2009 Aug 15;18(16):3075-89. doi: 10.1093/hmg/ddp249. Epub 2009 May 28. Hum Mol Genet. 2009. PMID: 19477959 Free PMC article.

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