A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration

Mol Vis. Oct 2008

Prenatal diagnosis of beta-thalassaemia by chorionic villous sampling.

J PMA 2007 Nov

 Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.

Nat Genet. 2007 Jul

Regional and ethnic distribution of Beta thalassemia mutations and effect of consanguinity in patients referred for prenatal diagnosis.

J Coll Ph. Surg Pak  2007 Mar

An SCN9A channelopathy causes congenital inability to experience pain

Nature. 2006 Dec

Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes

Eur J Hum Genet. 2006 Dec

MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.

Eur J Hum Genet. 2006 Feb

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.

Nat Genet.

2005 May

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy.

J Med Genet.

2005 Feb

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

Am J Hum Genet. 2004 Aug

Protein truncating mutations in ASPM cause variable reduction in brain size

Am J Hum Genet. 2003 Nov

Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36

Eur J Hum Genet. 2003 May

Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.

Br J Ophthalmol.

2003 Apr

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation.

J Med Genetics

 2002 Oct

Identification of microcephalin, a protein implicated in determining the size of the human brain.

Am J Hum Genet. 2002 Jul

A new pedigree with recessive mapping to CHED2 Locus on 20P13

British Journal of Ophtha. 2001

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.

Am J Hum Genet. 2000 Dec

Prenatal diagnosis of beta-thalassaemia in Pakistan: experience in a Muslim country.

Prenatal Diagn. May 2000

Prenatal diagnosis of haemophilia-A: a basis for the Pakistani families.

J Pak Med Assoc. 1999 Oct

The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.

Eur J Hum Genet. 1999 Oct-Nov

Down's syndrome: prospects for prevention by antenatal diagnosis.

J Pak Med Assoc. 1999 Mar

Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter".

American J of Human Genetics 1998