List of works - Khalda S. Amr

A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient.

scientific article

A novel mutation in the leptin gene (W121X) in an Egyptian family.

scientific article

APOA2 Polymorphism in Relation to Obesity and Lipid Metabolism

scientific article published on 09 December 2013

Apolipoprotein A5 T-1131C variant and risk for metabolic syndrome in obese adolescents

scientific article published on 22 October 2013

C242T polymorphism of NADPH oxidase p22phox gene reduces the risk of coronary artery disease in a random sample of Egyptian population.

scientific article published on 11 January 2014

Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

article

Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.

scientific article

Epigenetic effects toward new insights as potential therapeutic target in B-thalassemia

scientific article published on 31 March 2021

Evaluating the association of APOA2 polymorphism with insulin resistance in adolescents

scientific article

Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I ⬇️

scientific article published on May 11, 2012

Genomic alterations in the F8 gene correlating with severe hemophilia A in Egyptian patients

scientific article published on 20 December 2020

Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene

scientific article published on September 2014

Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity.

scientific article published on 31 December 2010

Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.

scientific article

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome

scientific article

Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.

scientific article published in July 2008

Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients

scientific article

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.

scientific article published on 5 July 2012

Polymorphisms at IL28B gene as predictors of viral relapse in genotype 4 Egyptian hepatitis C patients.

scientific article published on 17 August 2015

Possible role of angiotensin-converting enzyme polymorphism on progression of hepatic fibrosis in chronic hepatitis C virus infection.

scientific article

Reduction of RANTES expression in lesional psoriatic skin after narrow band ultraviolet therapy: a possible marker of therapeutic efficacy

scientific article published in July 2012

Role of nanoparticles in osteogenic differentiation of bone marrow mesenchymal stem cells

scientific article published on 13 November 2019

Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis

article

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling

scientific article

The Pro12Ala polymorphism of the gene for peroxisome proliferator activated receptor-gamma is associated with a lower Global Acne Grading System score in patients with acne vulgaris

scientific article published in July 2014

The milder phenotype of the dystrophin gene double deletions.

scientific article

The potential role of miRNAs 21 and 199-a in early diagnosis of hepatocellular carcinoma.

scientific article

List of works by Khalda S. Amr

A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient.

A novel mutation in the leptin gene (W121X) in an Egyptian family.

APOA2 Polymorphism in Relation to Obesity and Lipid Metabolism

Apolipoprotein A5 T-1131C variant and risk for metabolic syndrome in obese adolescents

C242T polymorphism of NADPH oxidase p22phox gene reduces the risk of coronary artery disease in a random sample of Egyptian population.

Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.

Epigenetic effects toward new insights as potential therapeutic target in B-thalassemia

Evaluating the association of APOA2 polymorphism with insulin resistance in adolescents

Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I ⬇️

Genomic alterations in the F8 gene correlating with severe hemophilia A in Egyptian patients

Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene

Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity.

Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome

Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.

Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.

Polymorphisms at IL28B gene as predictors of viral relapse in genotype 4 Egyptian hepatitis C patients.

Possible role of angiotensin-converting enzyme polymorphism on progression of hepatic fibrosis in chronic hepatitis C virus infection.

Reduction of RANTES expression in lesional psoriatic skin after narrow band ultraviolet therapy: a possible marker of therapeutic efficacy

Role of nanoparticles in osteogenic differentiation of bone marrow mesenchymal stem cells

Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling

The Pro12Ala polymorphism of the gene for peroxisome proliferator activated receptor-gamma is associated with a lower Global Acne Grading System score in patients with acne vulgaris

The milder phenotype of the dystrophin gene double deletions.

The potential role of miRNAs 21 and 199-a in early diagnosis of hepatocellular carcinoma.