Detalhe da pesquisa
1.
A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes.
Hum Genet
; 140(4): 649-666, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33389129
2.
Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine.
Exp Eye Res
; 189: 107834, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31639339
3.
Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.
JAMA
; 322(17): 1682-1691, 2019 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31688885
4.
Carriers of mitochondrial DNA macrohaplogroup L3 basal lineages migrated back to Africa from Asia around 70,000 years ago.
BMC Evol Biol
; 18(1): 98, 2018 06 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-29921229
5.
Carriers of mitochondrial DNA macrohaplogroup R colonized Eurasia and Australasia from a southeast Asia core area.
BMC Evol Biol
; 17(1): 115, 2017 05 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28535779
6.
A common variant near TGFBR3 is associated with primary open angle glaucoma.
Hum Mol Genet
; 24(13): 3880-92, 2015 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25861811
7.
Lack of association between polymorphism rs540782 and primary open angle glaucoma in Saudi patients.
J Negat Results Biomed
; 16(1): 3, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28153016
8.
Polymorphism rs547984 on human chromosome 1q43 is not associated with primary open angle glaucoma in a Saudi cohort.
J Negat Results Biomed
; 16(1): 12, 2017 Jun 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28648143
9.
Carriers of human mitochondrial DNA macrohaplogroup M colonized India from southeastern Asia.
BMC Evol Biol
; 16(1): 246, 2016 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27832758
10.
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.
Am J Hum Genet
; 93(3): 471-81, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23993193
11.
Polymorphism rs7555523 in transmembrane and coiled-coil domain 1 (TMCO1) is not a risk factor for primary open angle glaucoma in a Saudi cohort.
J Negat Results Biomed
; 15(1): 17, 2016 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27687253
12.
Case-control association between CCT-associated variants and keratoconus in a Saudi Arabian population.
J Negat Results Biomed
; 14: 10, 2015 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26040312
13.
Keratoconus is associated with increased copy number of mitochondrial DNA.
Mol Vis
; 20: 1203-8, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25221426
14.
HOXA1 Mutations are Not Commonly Associated with Non-Syndromic Deafness.
Can J Neurol Sci
; 41(4): 448-51, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24878468
15.
Neurologic injury in isolated sulfite oxidase deficiency.
Can J Neurol Sci
; 41(1): 42-8, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24384336
16.
Attitudes of Saudi parents with a deaf child towards prenatal diagnosis and termination of pregnancy.
Prenat Diagn
; 34(2): 153-8, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24806347
17.
A catalase promoter variant rs1001179 is associated with visual acuity but not with primary angle closure glaucoma in Saudi patients.
BMC Med Genet
; 14: 84, 2013 Aug 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23961996
18.
A newly recognized autosomal recessive syndrome affecting neurologic function and vision.
Am J Med Genet A
; 161A(6): 1207-13, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23633300
19.
Congenital cranial dysinnervation disorders: a concept in evolution.
Curr Opin Ophthalmol
; 24(5): 398-406, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23872818
20.
Parent's attitude toward prenatal diagnosis and termination of pregnancy could be influenced by other factors rather than by the severity of the condition.
Prenat Diagn
; 33(3): 257-61, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23348856