Detalhe da pesquisa
1.
Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.
Am J Med Genet A
; 155A(5): 1202-11, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21484990
2.
Are MYO1C and MYO1F associated with hearing loss?
Biochim Biophys Acta
; 1792(1): 27-32, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19027848
3.
Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing.
Hum Genet
; 128(4): 411-9, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20668882
4.
Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations.
Audiol Neurootol
; 15(4): 211-20, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-19893302
5.
Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment.
J Hum Genet
; 54(3): 188-90, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19180119
6.
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
Mutat Res
; 681(2-3): 189-196, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-18804553
7.
A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss.
Eur J Hum Genet
; 16(5): 593-602, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18212818
8.
A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9.
Hum Genet
; 123(3): 267-72, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18224337
9.
Novel human pathological mutations. Gene symbol: GPR98. Disease: Usher syndrome 2C.
Hum Genet
; 125(3): 342, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19320012
10.
Gene symbol: TMC1. Disease: Deafness.
Hum Genet
; 124(3): 305, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18846636
11.
Gene symbol: TMC1. Disease: Hearing loss.
Hum Genet
; 124(3): 305, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18846637
12.
Function and expression pattern of nonsyndromic deafness genes.
Curr Mol Med
; 9(5): 546-64, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19601806
13.
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.
Eur J Hum Genet
; 17(4): 517-24, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18985073
14.
A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.
Am J Hum Genet
; 79(3): 449-57, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16909383