Detalhe da pesquisa
1.
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
Int J Mol Sci
; 23(8)2022 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35457110
2.
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
3.
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Int J Mol Sci
; 22(12)2021 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34203883
4.
CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.
Int J Mol Sci
; 22(23)2021 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34884448
5.
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.
Hum Mutat
; 40(5): 578-587, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30710461
6.
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
7.
A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype.
Hum Mol Genet
; 26(22): 4367-4374, 2017 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973654
8.
Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing.
Adv Exp Med Biol
; 1185: 189-195, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31884610
9.
Retinal findings in a patient of French ancestry with CABP4-related retinal disease.
Doc Ophthalmol
; 136(2): 135-143, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29525873
10.
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
11.
A comparative optical coherence tomography study in neuromyelitis optica spectrum disorder and multiple sclerosis.
Mult Scler
; 21(14): 1781-93, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25828758
12.
Long-term follow-up of two patients with oligocone trichromacy.
Doc Ophthalmol
; 131(2): 149-58, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26138751
13.
Variable Presentation of Leber Hereditary Optic Neuropathy in Children of a Family Harboring a Rare m.13051G>A mtDNA Mutation.
J Neuroophthalmol
; 40(4): 569-571, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33186266
14.
Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.
Ophthalmology
; 121(12): 2406-14, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25085631
15.
Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort.
Genes (Basel)
; 14(4)2023 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37107588
16.
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.
Am J Hum Genet
; 85(5): 720-9, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19896113
17.
Spinocerebellar ataxia: a rational approach to aetiological diagnosis.
Cerebellum
; 11(1): 289-99, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21892625
18.
Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy.
Mol Vis
; 17: 309-22, 2011 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-21293734
19.
Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis.
Ophthalmology
; 118(6): 1130-6, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21269699
20.
Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene.
Ophthalmology
; 118(3): 564-73, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21035867