Detalhe da pesquisa
1.
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.
Am J Hum Genet
; 84(6): 792-800, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19520207
2.
Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.
Mol Vis
; 14: 922-7, 2008 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-18509552
3.
Effect of Oral Valproic Acid vs Placebo for Vision Loss in Patients With Autosomal Dominant Retinitis Pigmentosa: A Randomized Phase 2 Multicenter Placebo-Controlled Clinical Trial.
JAMA Ophthalmol
; 136(8): 849-856, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29879277
4.
The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa.
Mol Vis
; 13: 1970-5, 2007 Oct 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-17982421
5.
Visual acuity and cognitive outcomes at 4 years of age in a double-blind, randomized trial of long-chain polyunsaturated fatty acid-supplemented infant formula.
Early Hum Dev
; 83(5): 279-84, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17240089
6.
Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.
Invest Ophthalmol Vis Sci
; 47(10): 4579-88, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17003455
7.
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.
Invest Ophthalmol Vis Sci
; 47(1): 34-42, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16384941
8.
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
Invest Ophthalmol Vis Sci
; 47(7): 3052-64, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16799052
9.
Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers.
Invest Ophthalmol Vis Sci
; 57(2): 349-59, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26842753
10.
Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene.
Am J Ophthalmol
; 140(5): 858-867, 2005 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16214101
11.
Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies.
JAMA Ophthalmol
; 133(5): 511-7, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25675413
12.
Docosahexaenoic Acid Slows Visual Field Progression in X-Linked Retinitis Pigmentosa: Ancillary Outcomes of the DHAX Trial.
Invest Ophthalmol Vis Sci
; 56(11): 6646-53, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26469750
13.
Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene.
Mol Vis
; 9: 129-37, 2003 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-12724644
14.
Safety assessment of docosahexaenoic acid in X-linked retinitis pigmentosa: the 4-year DHAX trial.
Invest Ophthalmol Vis Sci
; 55(8): 4958-66, 2014 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-25015354
15.
Four-year placebo-controlled trial of docosahexaenoic acid in X-linked retinitis pigmentosa (DHAX trial): a randomized clinical trial.
JAMA Ophthalmol
; 132(7): 866-73, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24805262
16.
Visual acuity assessment of children with special needs.
Am Orthopt J
; 62: 90-8, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22848117
17.
Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7.
Arch Ophthalmol
; 129(11): 1475-82, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22084217
18.
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.
Hum Mol Genet
; 11(5): 559-68, 2002 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-11875050