Detalhe da pesquisa
1.
Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression.
Mol Vis
; 27: 107-116, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33907366
2.
A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant.
Mol Vis
; 26: 299-310, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32476814
3.
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
Inglês
| MEDLINE | ID: mdl-27588452
4.
A common variant near TGFBR3 is associated with primary open angle glaucoma.
Hum Mol Genet
; 24(13): 3880-92, 2015 Jul 01.
Artigo
Inglês
| MEDLINE | ID: mdl-25861811
5.
Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.
Hum Mutat
; 36(9): 836-41, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26077327
6.
ABCB6 mutations cause ocular coloboma.
Am J Hum Genet
; 90(1): 40-8, 2012 Jan 13.
Artigo
Inglês
| MEDLINE | ID: mdl-22226084
7.
Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.
Am J Hum Genet
; 99(5): 1222-1223, 2016 11 03.
Artigo
Inglês
| MEDLINE | ID: mdl-27814526
8.
A novel mutation in the NR2E3 gene associated with Goldmann-Favre syndrome and vasoproliferative tumor of the retina.
Mol Vis
; 20: 724-31, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-24891813
9.
TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations.
Sci Rep
; 9(1): 12047, 2019 08 19.
Artigo
Inglês
| MEDLINE | ID: mdl-31427709
10.
Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis.
Front Mol Neurosci
; 11: 348, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30319355
11.
Clinical and genetic characterization of a large primary open angle glaucoma pedigree.
Ophthalmic Genet
; 38(3): 222-225, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-27355837
12.
Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.
Invest Ophthalmol Vis Sci
; 57(3): 940-7, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26962691