Detalhe da pesquisa
1.
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
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.
Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.
Int J Mol Sci
; 19(8)2018 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-30060493
5.
Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B.
JAMA Ophthalmol
; 137(6): 669-679, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30998820