Detalhe da pesquisa
1.
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
Hum Mol Genet
; 24(9): 2594-603, 2015 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-25616960
2.
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.
Mol Vis
; 16: 495-500, 2010 Mar 23.
Artigo
Inglês
| MEDLINE | ID: mdl-20352026
3.
Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing.
Hum Mutat
; 29(3): 452, 2008 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-18273900
4.
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.
Hum Mutat
; 28(6): 571-7, 2007 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-17301963
5.
Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome.
Mol Vis
; 13: 1539-47, 2007 Aug 30.
Artigo
Inglês
| MEDLINE | ID: mdl-17893653
6.
Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies.
Mol Vis
; 11: 929-33, 2005 Nov 03.
Artigo
Inglês
| MEDLINE | ID: mdl-16288196
7.
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).
Orphanet J Rare Dis
; 10: 15, 2015 Feb 10.
Artigo
Inglês
| MEDLINE | ID: mdl-25759012
8.
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.
Eur J Hum Genet
; 22(2): 286-8, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-23838597
9.
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.
Orphanet J Rare Dis
; 7: 59, 2012 Sep 02.
Artigo
Inglês
| MEDLINE | ID: mdl-22938382
10.
Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.
J Cell Biol
; 199(2): 381-99, 2012 Oct 15.
Artigo
Inglês
| MEDLINE | ID: mdl-23045546
11.
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
J Clin Invest
; 121(7): 2662-7, 2011 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21633164
12.
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
J Clin Invest
; 120(6): 1812-23, 2010 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-20440071
13.
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.
Eur J Hum Genet
; 17(1): 80-4, 2009 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-18665195
14.
A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.
Eur J Hum Genet
; 17(8): 1076-9, 2009 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-19190672
15.
Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.
Genome Biol
; 8(4): R47, 2007.
Artigo
Inglês
| MEDLINE | ID: mdl-17407589
16.
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
Hum Genet
; 121(2): 203-11, 2007 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-17171570