Detalhe da pesquisa
1.
X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients.
Ophthalmology
; 129(2): 191-202, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34624300
2.
ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM.
Retina
; 41(6): 1346-1355, 2021 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34001834
3.
CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study.
Retina
; 41(1): 213-223, 2021 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32301896
4.
The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond.
Hum Mutat
; 40(5): 539-551, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30668888
5.
Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Genet Med
; 21(8): 1998, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30297699
6.
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Genet Med
; 21(8): 1761-1771, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30670881
7.
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Genet Med
; 20(2): 202-213, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28749477
8.
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
Hum Mutat
; 38(11): 1579-1591, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28795510
9.
arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.
Genet Med
; 19(4): 457-466, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27608171
10.
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.
Hum Mutat
; 36(12): 1188-96, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26316326
11.
Quantitative analysis of venation patterns of Arabidopsis leaves by supervised image analysis.
Plant J
; 69(3): 553-63, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21955023
12.
Outcome of Cataract Surgery in Patients With Retinitis Pigmentosa.
Am J Ophthalmol
; 246: 1-9, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36252678
13.
Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.
Genet Med
; 14(6): 576-85, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22261762
14.
CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up.
Br J Ophthalmol
; 106(5): 696-704, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33579689
15.
Restoration of Cone Sensitivity to Individuals with Congenital Photoreceptor Blindness within the Phase 1/2 Sepofarsen Trial.
Ophthalmol Sci
; 2(2): 100133, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36249682
16.
Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial.
Nat Med
; 28(5): 1014-1021, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35379979
17.
The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.
Ophthalmol Retina
; 6(8): 711-722, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35314386
18.
Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene.
Ophthalmic Genet
; 42(4): 440-445, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33858285
19.
A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings.
Sci Rep
; 11(1): 15834, 2021 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34349199
20.
Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant.
Sci Rep
; 11(1): 117, 2021 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33420188