Detalhe da pesquisa
1.
A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.
Genet Res (Camb)
; 2023: 9999660, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37829154
2.
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
Hum Genet
; 137(9): 735-752, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30167849
3.
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
Mol Vis
; 23: 482-494, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28761321
4.
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.
Am J Hum Genet
; 93(1): 132-40, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23768514
5.
Effects of natural honey on blood glucose and lipid profile in young healthy Pakistani males.
J Ayub Med Coll Abbottabad
; 25(3-4): 44-7, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-25226738
6.
DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.
Hum Genet
; 129(4): 379-85, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21181198
7.
Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome.
Biomed Res Int
; 2021: 6626015, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33688495
8.
Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.2322.3.
Hum Genet
; 127(4): 395-401, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20054564
9.
The Connotation of Variances in the Risk Predictors, Medications, Homocysteine, and Homocysteine Pathway Gene Polymorphisms with CVA/Stroke.
Glob Med Genet
; 7(4): 113-120, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33693444
10.
Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly.
Congenit Anom (Kyoto)
; 60(4): 115-119, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31621941
11.
Variants in GLI3 Cause Greig Cephalopolysyndactyly Syndrome.
Genet Test Mol Biomarkers
; 23(10): 744-750, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31573334
12.
Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3).
Hum Genet
; 123(5): 515-9, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18461368
13.
Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families.
Congenit Anom (Kyoto)
; 58(1): 24-28, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28425126
14.
Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.
BMC Med Genet
; 8: 58, 2007 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17764569
15.
Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH).
Iran J Basic Med Sci
; 17(7): 470-5, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25429336
16.
Breast and Ovarian Cancer Risk due to Prevalence of BRCA1 and BRCA2 Variants in Pakistani Population: A Pakistani Database Report.
J Oncol
; 2011: 632870, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21559243
17.
Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families.
J Dermatol
; 38(8): 755-60, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21919222
18.
A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy.
Arch Dermatol Res
; 302(9): 701-3, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20140736
19.
Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2).
J Dermatol Sci
; 54(1): 12-6, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19167195
20.
Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia.
Arch Dermatol Res
; 301(8): 625-9, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19551394