Detalhe da pesquisa
1.
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.
Am J Hum Genet
; 111(2): 393-402, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38272031
2.
Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9.
Curr Issues Mol Biol
; 46(3): 2566-2575, 2024 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38534779
3.
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
Genet Med
; : 101106, 2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38420906
4.
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
Genet Med
; 25(3): 100345, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36524988
5.
Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.
Mol Vis
; 29: 1-12, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37287645
6.
Male sterility and reduced female fertility in SCAPER-deficient mice.
Hum Mol Genet
; 29(13): 2240-2249, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32510560
7.
Autosomal dominant retinitis pigmentosa with incomplete penetrance due to an intronic mutation of the PRPF31 gene.
Mol Vis
; 28: 359-368, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36338669
8.
Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes.
Mol Vis
; 28: 21-28, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35400991
9.
THE TARGET SIGN: A Near Infrared Feature and Multimodal Imaging in a Pluri-Ethnic Cohort with RDH5-Related Fundus Albipunctatus.
Retina
; 42(7): 1364-1369, 2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35250012
10.
Inherited Retinal Diseases.
Int J Mol Sci
; 23(21)2022 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36362249
11.
PRCD is concentrated at the base of photoreceptor outer segments and is involved in outer segment disc formation.
Hum Mol Genet
; 28(24): 4078-4088, 2019 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31628458
12.
Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression.
Mol Vis
; 27: 107-116, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33907366
13.
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
Hum Mutat
; 41(1): 140-149, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31456290
14.
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Genet Med
; 22(7): 1235-1246, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32307445
15.
TULP1 and TUB Are Required for Specific Localization of PRCD to Photoreceptor Outer Segments.
Int J Mol Sci
; 21(22)2020 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33213002
16.
Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.
Am J Hum Genet
; 99(3): 777-784, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27588452
17.
The co-occurrence of rare non-ocular phenotypes in patients with inherited retinal degenerations.
Mol Vis
; 25: 691-702, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31814694
18.
A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews.
Mol Vis
; 25: 155-164, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30820151
19.
[THE ISRAELI INHERITED RETINAL DISEASES CONSORTIUM (IIRDC)- CLINICAL-GENETIC MAPPING AND FUTURE PERSPECTIVES].
Harefuah
; 158(2): 91-95, 2019 Feb.
Artigo
em Hebraico
| MEDLINE | ID: mdl-30779484
20.
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.
Genet Med
; 20(9): 1004-1012, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300381