Detalhe da pesquisa
1.
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
Genet Med
; 21(4): 948-954, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30245514
2.
HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.
PLoS Genet
; 11(3): e1005137, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25816005
3.
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
Am J Hum Genet
; 88(2): 127-37, 2011 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21255762
4.
Advancing genetic testing for deafness with genomic technology.
J Med Genet
; 50(9): 627-34, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23804846
5.
Expressivity of hearing loss in cases with Usher syndrome type IIA.
Int J Audiol
; 52(12): 832-7, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24160897
6.
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.
Am J Hum Genet
; 85(3): 328-37, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19732867
7.
Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I.
Mol Vis
; 18: 1379-83, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22690115
8.
Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.
Mol Vis
; 18: 1719-26, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22815625
9.
Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.
Hum Mol Genet
; 17(15): 2405-15, 2008 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18463160
10.
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.
Genet Med
; 12(8): 512-6, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20613545
11.
Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.
Ann Otol Rhinol Laryngol
; 119(12): 830-5, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21250555
12.
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.
Hum Mutat
; 29(4): 565, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18330911
13.
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.
Hum Mutat
; 29(4): 537-44, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18220287
14.
Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.
Invest Ophthalmol Vis Sci
; 49(6): 2651-60, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18281613
15.
Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history.
Am J Kidney Dis
; 52(6): 1042-50, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18640754
16.
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.
Am J Med Genet A
; 146A(17): 2258-65, 2008 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18688868
17.
Development of a genotyping microarray for Usher syndrome.
J Med Genet
; 44(2): 153-60, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16963483
18.
Is hearing loss due to mutations in the Connexin 26 gene progressive?
Int J Audiol
; 47(1): 11-20, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18196482
19.
Genotype-phenotype correlations for SLC26A4-related deafness.
Hum Genet
; 122(5): 451-7, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17690912
20.
The Coxsackievirus and Adenovirus Receptor: a new adhesion protein in cochlear development.
Hear Res
; 215(1-2): 1-9, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16678988