Detalhe da pesquisa
1.
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.
Eur J Hum Genet
; 15(11): 1145-55, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17637808
2.
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
Eur J Hum Genet
; 14(6): 773-9, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16570074
3.
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.
Arch Otolaryngol Head Neck Surg
; 131(6): 481-7, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15967879
4.
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.
Eur J Hum Genet
; 12(4): 279-84, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-14694360
5.
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct.
Int J Pediatr Otorhinolaryngol
; 74(9): 1049-53, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20621367
6.
Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis.
Am J Med Genet A
; 127A(3): 263-7, 2004 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15150777