Detalhe da pesquisa
1.
Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
Genet Med
; 16(9): 720-4, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24603435
2.
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.
Nat Genet
; 37(10): 1135-40, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16170314
3.
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
4.
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
5.
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
6.
Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor.
Eur J Hum Genet
; 10(12): 851-6, 2002 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-12461693
7.
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Orphanet J Rare Dis
; 6: 21, 2011 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21569298
8.
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
9.
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