Detalhe da pesquisa
1.
Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.
J Gene Med
; 25(10): e3522, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37119015
2.
Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family.
Am J Med Genet A
; 188(9): 2693-2700, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35703069
3.
Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family.
J Gene Med
; 23(1): e3279, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32989887
4.
Novel missense alteration in LRP4 gene underlies Cenani-Lenz syndactyly syndrome in a consanguineous family.
J Gene Med
; 22(1): e3143, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31750994
5.
Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families.
J Gene Med
; 22(5): e3167, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32020700
6.
A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities.
Brain
; 142(5): 1242-1254, 2019 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30968111
7.
A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families.
J Gene Med
; 21(9): e3113, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31310406
8.
Subtractive genome analysis for in silico identification and characterization of novel drug targets in Streptococcus pneumonia strain JJA.
Microb Pathog
; 115: 194-198, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29277475
9.
Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family.
Ann Hum Genet
; 79(5): 350-356, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26102279
10.
Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families.
Gene
; 894: 147986, 2024 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37956964
11.
Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes.
Genes (Basel)
; 14(1)2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672886
12.
Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases.
Genes (Basel)
; 14(2)2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833258
13.
A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family.
Genes (Basel)
; 14(2)2023 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833437
14.
Phenotypic Classification of Eye Colour and Developmental Validation of the Irisplex System on Population Living in Malakand Division, Pakistan.
Biomedicines
; 11(4)2023 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37189847
15.
Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families.
Front Genet
; 14: 1185065, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37359369
16.
A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles.
Am J Hum Genet
; 85(4): 515-20, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19765682
17.
Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.
Hum Hered
; 71(2): 106-12, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21734401
18.
Association of cytochromes P450 3A4*22 and 3A5*3 genotypes and polymorphism with response to simvastatin in hypercholesterolemia patients.
PLoS One
; 17(7): e0260824, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35839255
19.
Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1).
J Hum Genet
; 56(5): 352-7, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21346770
20.
Two missense mutations in GPNMB cause autosomal recessive amyloidosis cutis dyschromica in the consanguineous pakistani families.
Genes Genomics
; 43(5): 471-478, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33687658