Detalhe da pesquisa
1.
Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy.
Genet Med
; : 101081, 2024 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38293907
2.
Extensive Macular Atrophy with Pseudodrusen-like appearance (EMAP): progression kinetics and late-stage findings.
Ophthalmology
; 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38583493
3.
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
Am J Hum Genet
; 106(6): 859-871, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32470375
4.
Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease.
Int J Mol Sci
; 23(13)2022 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35806195
5.
Large Benefit from Simple Things: High-Dose Vitamin A Improves RBP4-Related Retinal Dystrophy.
Int J Mol Sci
; 23(12)2022 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35743034
6.
CHM mutation spectrum and disease: An update at the time of human therapeutic trials.
Hum Mutat
; 42(4): 323-341, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33538369
7.
CNGB1-related rod-cone dystrophy: A mutation review and update.
Hum Mutat
; 42(6): 641-666, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33847019
8.
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
9.
A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency.
Int J Mol Sci
; 22(9)2021 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33922602
10.
Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy.
Int J Mol Sci
; 22(15)2021 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34360642
11.
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.
Retina
; 40(8): 1603-1615, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31479088
12.
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
13.
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.
Am J Hum Genet
; 98(5): 1011-1019, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27063057
14.
Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.
Mol Vis
; 25: 373-381, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31367175
15.
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
16.
AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis.
Retina
; 39(5): 867-878, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29370033
17.
Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease.
Int J Mol Sci
; 20(20)2019 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31614660
18.
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
19.
MERTK mutation update in inherited retinal diseases.
Hum Mutat
; 39(7): 887-913, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29659094
20.
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
Am J Hum Genet
; 107(3): 580, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32888510