Detalhe da pesquisa
1.
A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.
Am J Hum Genet
; 88(2): 207-15, 2011 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21295282
2.
Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.
Am J Hum Genet
; 87(3): 382-91, 2010 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20705279
3.
A pilot study of topical treatment with an alpha2-agonist in patients with retinal dystrophies.
J Ocul Pharmacol Ther
; 24(1): 80-6, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18201138
4.
Wiping microkeratome blades with sterile 100% alcohol to prevent diffuse lamellar keratitis after laser in situ keratomileusis.
J Cataract Refract Surg
; 29(10): 1947-9, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-14604715
5.
Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.
Invest Ophthalmol Vis Sci
; 55(2): 1149-60, 2014 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24474277
6.
Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations.
Invest Ophthalmol Vis Sci
; 54(3): 2068-75, 2013 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23449718
7.
Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.
PLoS One
; 7(12): e51566, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23251578
8.
Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array.
Invest Ophthalmol Vis Sci
; 51(8): 3884-92, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20220053
9.
Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.
Invest Ophthalmol Vis Sci
; 51(9): 4387-94, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20375346
10.
The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients.
Arch Ophthalmol
; 127(3): 297-302, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19273793
11.
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.
Am J Hum Genet
; 77(6): 1021-33, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16380913