• Publications
  • Influence
Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3)
Autosomal recessive hypotrichosis (LAH3) is a rare hair disorder characterized by sparse hair on scalp and the rest of the body of affected individuals. Recently mutations in a G protein-coupledExpand
  • 43
  • 3
A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy
Mutations in CDH3 gene, encoding P-cadherin, are responsible for hypotrichosis with juvenile macular dystrophy (HJMD), which is a rare autosomal recessive disorder. The HJMD is characterized byExpand
  • 22
  • 3
DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2
DFNB89 is a novel autosomal recessive nonsyndromic hearing impairment (ARNSHI) locus that was mapped to 16q21-q23.2. Linkage to the region was established by carrying out genome-wide linkage scans inExpand
  • 12
  • 2
Effects of natural honey on blood glucose and lipid profile in young healthy Pakistani males.
BACKGROUND Honey has been shown to have beneficial effects on the glucose and lipid profiles in patients at high risk of heart diseases. Therefore, this study was carried out to investigate theExpand
  • 10
  • 2
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.
Previously, DFNB89, a locus associated with autosomal-recessive nonsyndromic hearing impairment (ARNSHI), was mapped to chromosomal region 16q21-q23.2 in three unrelated, consanguineous PakistaniExpand
  • 72
  • 1
Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2).
BACKGROUND Autosomal recessive hypotrishosis (LAH2) is a rare form of alopecia characterized by sparse hair on scalp, sparse to absent eyebrows and eyelashes, and sparse auxiliary and body hair.Expand
  • 18
  • 1
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families
Purpose To investigate the molecular basis of Bardet-Biedl syndrome (BBS) in five consanguineous families of Pakistani origin. Methods Linkage in two families (A and B) was established to BBS7 onExpand
  • 16
  • 1
Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia
Mutations in three functionally related genes EDA, EDAR and EDARDD have been reported to cause hypohidrotic ectodermal dysplasia (HED), which is characterized by sparse hair, reduced ability toExpand
  • 16
Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.23–22.3
Autosomal recessive hypotrichosis is a rare form of human genetic disorder characterized by sparse to absent hair on scalp and rest of the body of affected individuals. Over the past few years atExpand
  • 16
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability
Identification of Mendelian genes for neurodevelopmental disorders using exome sequencing to study autosomal recessive (AR) consanguineous pedigrees has been highly successful. To identify causalExpand
  • 7