Detalhe da pesquisa
1.
WDR34, a candidate gene for non-syndromic rod-cone dystrophy.
Clin Genet
; 99(2): 298-302, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33124039
2.
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Hum Mutat
; 40(6): 765-787, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30825406
3.
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.
Clin Genet
; 95(2): 329-333, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30267408
4.
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.
Int J Mol Sci
; 20(19)2019 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31574917
5.
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.
Am J Hum Genet
; 94(4): 625-33, 2014 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24680887
6.
The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.
Hum Mol Genet
; 23(2): 491-501, 2014 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24026677
7.
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.
Am J Hum Genet
; 92(1): 67-75, 2013 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23246293
8.
RAD51 haploinsufficiency causes congenital mirror movements in humans.
Am J Hum Genet
; 90(2): 301-7, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22305526
9.
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
Am J Hum Genet
; 90(2): 321-30, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22325361
10.
CRB1 mutations in inherited retinal dystrophies.
Hum Mutat
; 33(2): 306-15, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22065545
11.
Robust physical methods that enrich genomic regions identical by descent for linkage studies: confirmation of a locus for osteogenesis imperfecta.
BMC Genet
; 10: 16, 2009 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-19331686
12.
Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.
PLoS One
; 11(12): e0168271, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27977773
13.
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.
Orphanet J Rare Dis
; 10: 85, 2015 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26103963
14.
Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy.
Biomed Res Int
; 2015: 485624, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25692139
15.
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.
Orphanet J Rare Dis
; 7: 8, 2012 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-22277662