Modamio-Hoybjor S - Search Results

1

Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane.

Legan PK, Goodyear RJ, Morín M, Mencia A, Pollard H, Olavarrieta L, Korchagina J, Modamio-Hoybjor S, Mayo F, Moreno F, Moreno-Pelayo MA, Richardson GP. Legan PK, et al. Among authors: modamio hoybjor s. Hum Mol Genet. 2014 May 15;23(10):2551-68. doi: 10.1093/hmg/ddt646. Epub 2013 Dec 20. Hum Mol Genet. 2014. PMID: 24363064 Free PMC article.

2

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.

3

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.

4

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.

5

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

Hildebrand MS, Morín M, Meyer NC, Mayo F, Modamio-Hoybjor S, Mencía A, Olavarrieta L, Morales-Angulo C, Nishimura CJ, Workman H, DeLuca AP, del Castillo I, Taylor KR, Tompkins B, Goodman CW, Schrauwen I, Wesemael MV, Lachlan K, Shearer AE, Braun TA, Huygen PL, Kremer H, Van Camp G, Moreno F, Casavant TL, Smith RJ, Moreno-Pelayo MA. Hildebrand MS, et al. Among authors: modamio hoybjor s. Hum Mutat. 2011 Jul;32(7):825-34. doi: 10.1002/humu.21512. Epub 2011 Jun 7. Hum Mutat. 2011. PMID: 21520338 Free PMC article.

6

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

7

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

8

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

9

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.

10

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.

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