List of works - Samia A Temtamy

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 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 novel point mutation of the androgen receptor (F804L) in an Egyptian newborn with complete androgen insensitivity associated with congenital glaucoma and hypertrophic pyloric stenosis.

scientific article published on January 2003

A postaxial polydactyly-dental-vertebral syndrome ⬇️

scientific article published on February 1, 1977

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

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

scientific article

Catel-Manzke digitopalatal syndrome or Temtamy preaxial brachydactyly hyperphalangism syndrome?

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

Characteristics of patients with congenital clasped thumb: a prospective study of 40 patients with the results of treatment.

scientific article published on 17 October 2007

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

Genetics and Genomic Medicine in Egypt: steady pace.

scientific article published on 17 January 2017

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

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

scientific article (publication date: December 1999)

Mother and daughter with a novel phenotype of hand and foot anomalies and severe pectus excavatum

scientific article published on 26 March 2014

Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype

scientific article published on 01 January 2011

Mutations in ANTXR1 cause GAPO syndrome.

scientific article published on 18 April 2013

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

Oto-spondylo-megaepiphyseal dysplasia (OSMED): Clinical and radiological findings in sibs homozygous for premature stop codon mutation in theCOL11A2 gene

article

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

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

scientific article

The Coffin-Lowry syndrome: an inherited faciodigital mental retardation syndrome

scientific article published on May 1, 1975

The Robinow Syndrome

scientific article published on 01 March 1975

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

scientific article published on 28 May 2009

The syndrome of aplasia cutis congenita with terminal, transverse defects of limbs

scientific article published on 01 July 1975

Transposition of external genitalia and associated malformations

scientific article published on 01 January 2003

Two different Temtamy syndromes.

scientific article

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 Samia A Temtamy

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

A novel point mutation of the androgen receptor (F804L) in an Egyptian newborn with complete androgen insensitivity associated with congenital glaucoma and hypertrophic pyloric stenosis.

A postaxial polydactyly-dental-vertebral syndrome ⬇️

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.

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

Catel-Manzke digitopalatal syndrome or Temtamy preaxial brachydactyly hyperphalangism syndrome?

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

Characteristics of patients with congenital clasped thumb: a prospective study of 40 patients with the results of treatment.

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.

Genetics and Genomic Medicine in Egypt: steady pace.

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.

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

Mother and daughter with a novel phenotype of hand and foot anomalies and severe pectus excavatum

Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype

Mutations in ANTXR1 cause GAPO syndrome.

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

Oto-spondylo-megaepiphyseal dysplasia (OSMED): Clinical and radiological findings in sibs homozygous for premature stop codon mutation in theCOL11A2 gene

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

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

The Coffin-Lowry syndrome: an inherited faciodigital mental retardation syndrome

The Robinow Syndrome

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

The syndrome of aplasia cutis congenita with terminal, transverse defects of limbs

Transposition of external genitalia and associated malformations

Two different Temtamy syndromes.

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