List of works - S Amer Riazuddin

Properties of 3-methyladenine-DNA glycosylase from Escherichia coli

scientific article published on May 30, 1978

Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family

scientific article published on March 24, 2010

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

scientific article

Nucleotide Excision Repair of Damaged DNA

scientific article published on January 1, 1979

Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families

scientific article

Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3.

scientific article

Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes

scientific article published on July 1, 2015

The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.

scientific article published on 10 August 2007

Non-coding RNA profiling of the developing murine lens

scientific article published on January 22, 2016

Diazoxide preconditioning of endothelial progenitor cells from streptozotocin-induced type 1 diabetic rats improves their ability to repair diabetic cardiomyopathy

scientific article published on September 10, 2015

Mapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3q

scientific article published on December 8, 2010

Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p

scientific article published on December 30, 2010

Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population

scientific article published on December 13, 2012

Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss

scientific article

Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families

scientific article published on August 18, 2015

Combination of ADMSCs and chondrocytes reduces hypertrophy and improves the functional properties of osteoarthritic cartilage

scientific article published on August 13, 2014

Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts

scientific article

AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration

scientific article published on 06 January 2014

Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness

scientific article

Diazoxide preconditioning of endothelial progenitor cells improves their ability to repair the infarcted myocardium

scientific article published on July 7, 2015

Serum from CCl4-induced acute rat injury model induces differentiation of ADSCs towards hepatic cells and reduces liver fibrosis

scientific article published on November 7, 2017

Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family

scientific article published on 09 December 2019

List of works by S Amer Riazuddin

Properties of 3-methyladenine-DNA glycosylase from Escherichia coli

Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

Nucleotide Excision Repair of Damaged DNA

Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families

Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3.

Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes

The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.

Non-coding RNA profiling of the developing murine lens

Diazoxide preconditioning of endothelial progenitor cells from streptozotocin-induced type 1 diabetic rats improves their ability to repair diabetic cardiomyopathy

Mapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3q

Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p

Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population

Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss

Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families

Combination of ADMSCs and chondrocytes reduces hypertrophy and improves the functional properties of osteoarthritic cartilage

Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts

AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration

Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness

Diazoxide preconditioning of endothelial progenitor cells improves their ability to repair the infarcted myocardium

Serum from CCl4-induced acute rat injury model induces differentiation of ADSCs towards hepatic cells and reduces liver fibrosis

Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family