List of works - Mona S Aglan

3-M syndrome: a report of three Egyptian cases with review of the literature.

scientific article

3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease

scientific article published on 31 August 2021

A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis

scientific article published on 23 April 2015

A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly

scientific article published on 28 June 2014

A scoring system for the assessment of clinical severity in osteogenesis imperfecta ⬇️

scientific article published on February 8, 2012

Adams-Oliver syndrome: further evidence of an autosomal recessive variant

scientific article published on July 2007

Anthropometric measurements in Egyptian patients with osteogenesis imperfecta

scientific article published on 07 August 2012

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

scientific article

BMP1 Mutations in Autosomal Recessive Osteogenesis Imperfecta

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

scientific article

Brachydactyly

scientific article

Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate

scientific article published on 20 June 2019

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

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

scientific article published in September 2011

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

scientific article published on 18 August 2014

Dyggve-Melchior-Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families.

scientific article published on 09 October 2009

First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous <i>CANT1</i> Mutations

scientific article published on 22 July 2021

Further delineation of the clinical spectrum inRNU4ATACrelated microcephalic osteodysplastic primordial dwarfism type I

scientific article published on 21 June 2013

Genetic Disorders in Egypt

article

Growth charts of Down syndrome in Egypt: a study of 434 children 0-36 months of age.

scientific article published on 18 July 2012

Growth curves of Egyptian patients with Turner syndrome.

scientific article published on 27 July 2012

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

scientific article

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

scientific article

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

scientific article

Limb malformations with associated congenital constriction rings in two unrelated Egyptian males, one with a disorganization-like spectrum and the other with a probable distinct type of septo-optic dysplasia.

scientific article published on January 2010

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

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome

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

Mutations in WNT1 cause different forms of bone fragility

scientific article

OSX/SP7 Mutations and Osteogenesis Imperfecta

Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

scientific article published on 19 March 2014

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

scientific article

Springtime for Science in Egypt ⬇️

scientific article published on May 27, 2011

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

scientific article

The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.

scientific article published on 28 May 2009

Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.

scientific article published on December 2009

Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study

scientific article published on 3 July 2015

List of works by Mona S Aglan

3-M syndrome: a report of three Egyptian cases with review of the literature.

3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease

A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis

A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly

A scoring system for the assessment of clinical severity in osteogenesis imperfecta ⬇️

Adams-Oliver syndrome: further evidence of an autosomal recessive variant

Anthropometric measurements in Egyptian patients with osteogenesis imperfecta

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

BMP1 Mutations in Autosomal Recessive Osteogenesis Imperfecta

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Brachydactyly

Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate

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.

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

Dyggve-Melchior-Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families.

First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous <i>CANT1</i> Mutations

Further delineation of the clinical spectrum inRNU4ATACrelated microcephalic osteodysplastic primordial dwarfism type I

Genetic Disorders in Egypt

Growth charts of Down syndrome in Egypt: a study of 434 children 0-36 months of age.

Growth curves of Egyptian patients with Turner syndrome.

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

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

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

Limb malformations with associated congenital constriction rings in two unrelated Egyptian males, one with a disorganization-like spectrum and the other with a probable distinct type of septo-optic dysplasia.

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

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome

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

Mutations in WNT1 cause different forms of bone fragility

OSX/SP7 Mutations and Osteogenesis Imperfecta

Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

Springtime for Science in Egypt ⬇️

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

The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.

Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.

Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study