Detalhe da pesquisa
1.
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
Am J Hum Genet
; 99(3): 770-776, 2016 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27588451
2.
Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.
Neurogenetics
; 17(1): 17-23, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26489929
3.
Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma.
Clin Exp Ophthalmol
; 43(1): 31-9, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25091052
4.
CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia.
BMC Med Genet
; 15: 109, 2014 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-25261878
5.
Association of known common genetic variants with primary open angle, primary angle closure, and pseudoexfoliation glaucoma in Pakistani cohorts.
Mol Vis
; 20: 1471-9, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25489222
6.
Polymorphisms in matrix metalloproteinases MMP1 and MMP9 are associated with primary open-angle and angle closure glaucoma in a Pakistani population.
Mol Vis
; 19: 441-7, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23441116
7.
Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome.
Mol Vis
; 19: 644-53, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23559858
8.
Role of Lysyl oxidase-like 1 gene polymorphisms in Pakistani patients with pseudoexfoliative glaucoma.
Mol Vis
; 18: 1040-4, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22605916
9.
Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome.
Mol Vis
; 18: 1918-26, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22876116
10.
Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.
Mol Vis
; 18: 1226-37, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22665969
11.
Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract.
Mol Genet Genomic Med
; 10(8): e1985, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35638468
12.
XRCC1 and XPD DNA repair gene polymorphisms: a potential risk factor for glaucoma in the Pakistani population.
Mol Vis
; 17: 1153-63, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21617750
13.
The association of glutathione S-transferase GSTT1 and GSTM1 gene polymorphism with pseudoexfoliative glaucoma in a Pakistani population.
Mol Vis
; 16: 2146-52, 2010 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-21151336
14.
Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa.
Mol Vis
; 16: 2753-9, 2010 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21179430
15.
Association of eNOS and HSP70 gene polymorphisms with glaucoma in Pakistani cohorts.
Mol Vis
; 16: 18-25, 2010 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-20069064
16.
Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld-Rieger syndrome.
Mol Genet Genomic Med
; 8(7): e1215, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32400113
17.
MTHFR gene C677T and A1298C polymorphisms and homocysteine levels in primary open angle and primary closed angle glaucoma.
Mol Vis
; 15: 2268-78, 2009 Nov 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-19936026
18.
Association of tumor necrosis factor alpha gene polymorphism G-308A with pseudoexfoliative glaucoma in the Pakistani population.
Mol Vis
; 15: 2861-7, 2009 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-20029655
19.
MTHFR polymorphisms as risk for male infertility in Pakistan and its comparison with socioeconomic status in the world.
Per Med
; 16(1): 35-49, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30468411
20.
Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome.
Cornea
; 38(6): 718-722, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30865045