S. Temtamy

N. Bashir, S. Temtamy, M. El-Hazmi, 1999, Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit.

Molecular characterization of beta-thalassemia in Egyptians.

G. Vassilopoulos, H. Kazazian, A. El‐Beshlawy, 1993, Human mutation.

HLA-DRB typing among polyarticular juvenile idiopathic arthritis and progressive pseudorheumatoid dysplasia patients

K. Amr, S. Temtamy, M. Aglan, 2022, The Egyptian Rheumatologist.

Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.

N. Sobreira, Elizabeth S Wohler, Rabab Khairat, 2021, European journal of medical genetics.

Genomic and phenotypic delineation of congenital microcephaly

C. Walsh, F. Alkuraya, S. Arold, 2018, Genetics in Medicine.

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

S. Temtamy, M. Aglan, T. El-Badry, 2010, Clinical dysmorphology.

Hereditary contractures of the fingers (camptodactyly).

S. Temtamy, J. Welch, 1966, Journal of medical genetics.

Neu Laxova syndrome in two Egyptian families.

S. Temtamy, N. Abdel Meguid, 1991, American journal of medical genetics.

Hypogenitalism in the acrocallosal syndrome.

N. Meguid, S. Temtamy, 1989, American journal of medical genetics.

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

S. Temtamy, M. Aglan, A. Ashour, 2006, Clinical dysmorphology.

Fanconi anemia: studying telomeres and telomerase genes using fluorescent in-situ hybridization technique in Egyptian patients

Ghada El-Kamah, S. Temtamy, M. Eid, 2011 .

Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly

Martin W. Breuss, B. Traynor, J. Gleeson, 2019, Journal of Medical Genetics.

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

S. Antonarakis, S. Gimelli, F. Béna, 2014, Human mutation.

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.

M. Digilio, J. Goodship, P. Lapunzina, 2015, Human molecular genetics.

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

Susan S. Taylor, I. Scheffer, G. Mortier, 2020, American journal of human genetics.

The Robinow syndrome: an isolated case with a detailed study of the phenotype.

L. Plotnick, S. Temtamy, T. Kelly, 1975, American journal of diseases of children.

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

S. Temtamy, J. Miller, J. Miller, 1975, The Journal of pediatrics.

The 3-M syndrome: a heritable low birthweight dwarfism.

V. McKusick, S. Temtamy, J. Miller, 1975, Birth defects original article series.

Transposition of external genitalia and associated malformations

N. Meguid, S. Temtamy, I. Mazen, 2003, Clinical dysmorphology.

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

J. Goodship, P. Lapunzina, G. Cocchi, 2008, Human mutation.

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta

A. Munnich, P. Lapunzina, V. Cormier-Daire, 2018, Journal of Medical Genetics.

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

S. Gabriel, J. Casanova, E. Dikoglu, 2015, Nature Genetics.

Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3

C. Mathew, D. Easton, R. Gibson, 1995, Nature Genetics.

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

P. Scambler, R. Hennekam, J. Clayton-Smith, 2010, American journal of human genetics.

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

E. Aller, H. Kayserili, P. Lapunzina, 2020, Human mutation.

Greig cephalopolysyndactyly syndrome with dysgenesis of the corpus callosum in a Bedouin family.

M. Marafie, S. Al‐Awadi, S. Temtamy, 1996, American journal of medical genetics.

Clinical and cytogenetic description of three patients with constitutional mosaic trisomy 8

M. Zaki, S. Temtamy, M. Aglan, 2017 .

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

R. Hegele, G. Nürnberg, P. Nürnberg, 2010, American journal of human genetics.

Expanding the phenome and variome of skeletal dysplasia

S. Kapoor, F. Alkuraya, E. Faqeih, 2018, Genetics in Medicine.

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

P. Lapunzina, J. Nevado, E. Vallespín, 2016, Molecular genetics & genomic medicine.

Cytogenetic studies of chromosomal breakage diseases

S. Temtamy, M. Eid, 2013 .

On anomalies associated with radial dysplasia

S. Temtamy, 1974 .

Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly

M. Zaki, Ghada El-Kamah, S. Temtamy, 2021, Molecular genetics & genomic medicine.

COFS syndrome with familial 1;16 translocation

M. Zaki, S. Temtamy, H. Afifi, 1996, Clinical genetics.

Unusual pattern of inheritance and orodental changes in the Ellis-van Creveld syndrome.

S. Temtamy, I. Mazen, M. Mostafa, 2005, Genetic counseling.

Phenotypic and cytogenetic spectrum of 9p trisomy.

S. Temtamy, M. Aglan, A. Mohamed, 2007, Genetic counseling.

Familial Leydig cell hypoplasia as a cause of male pseudohermaphroditism.

M. Salam, M. El-Awady, Y. Gad, 1987, Human heredity.

The most encountered groups of genetic disorders in Giza Governorate, Egypt.

H. El-Bassyouni, G. Abdel-Salam, S. Temtamy, 2010, Bratislavske lekarske listy.

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

F. Turci, C. Royall, S. Temtamy, 2021, Bone Research.

Cytokinesis-blocked micronucleus assay in a group of Egyptian patients with Fanconi anemia

Ghada El-Kamah, S. Temtamy, M. Eid, 2012 .

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

G. Hosny, S. Temtamy, M. Aglan, 2009, Journal of children's orthopaedics.

Anthropometric measurements in Egyptian patients with osteogenesis imperfecta

M. Zaki, S. Temtamy, M. Aglan, 2012, American journal of medical genetics. Part A.

Environmental risk factors in isolated limb reduction defects

M. Zaki, O. Zaki, S. Temtamy, 2014 .

Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect

M. Zaki, G. Abdel-Salam, S. Temtamy, 2016, Metabolic Brain Disease.

Phenotypic and molecular insights into PQBP1‐related intellectual disability

N. Matsumoto, N. Miyake, S. Temtamy, 2018, American journal of medical genetics. Part A.

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

S. Temtamy, M. Aglan, M. El-Ruby, 2015, American journal of medical genetics. Part A.

Direct molecular analysis of the fragile X syndrome in a sample of Egyptian and German patients using non-radioactive PCR and Southern blot followed by chemiluminescent detection

J. Schmidtke, M. Stuhrmann, M. El-Awady, 1995, Human Genetics.

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

S. Temtamy, A. Hanna, Yehia Nour Eldin Tarraf, 2007, Journal of children's orthopaedics.

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

C. Farra, P. Lapunzina, K. Amr, 2013, American journal of medical genetics. Part A.

LONGITUDINAL PREAXIAL UPPER LIMB DEFICIENCY DISORDERS; GENETIC AND SURGICAL ASPECTS

S. Temtamy, A. Gilbert, A. Metwali, 2015 .

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation

H. El-Bassyouni, M. Zaki, M. Issa, 2020, American journal of medical genetics. Part A.

Genetic studies of congenital cataract.

S. Temtamy, M. Abdel-Salam, M. Y. el-Gammal, 1981, Metabolic and pediatric ophthalmology.

Blepharophimosis‐ptosis‐intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum

M. Zaki, M. Issa, S. Temtamy, 2020, American journal of medical genetics. Part A.

Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly

D. Horn, P. Lapunzina, Nadja Ehmke, 2021, Genetics in Medicine.

Cherubism

S. Temtamy, Marwa El Kassaby, A. A. El Azeem, 2012, Definitions.

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

S. Temtamy, M. Aglan, G. Otaify, 2015, Osteoporosis International.

Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective

C. Landi, Alessandro Armini, A. Gagliardi, 2017, Journal of proteomics.

A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly

S. Antonarakis, P. Makrythanasis, H. Hamamy, 2014, Human mutation.

Two different Temtamy syndromes.

S. Temtamy, 2013, Clinical Dysmorphology.

Definition of the phenotypic spectrum of Temtamy preaxial brachydactyly syndrome associated with autosomal recessive CHYS1 mutations

B. Wollnik, A. Topaloğlu, K. Amr, 2012 .

Nager acrofacial dysostosis with a novel mutation in SF3B4 and developmental retardation in an Egyptian child

S. Temtamy, M. Aglan, A. Fayez, 2017 .

Genetic heterogeneity in spondylo-epimetaphyseal dysplasias: a clinical and radiological study

S. Temtamy, E. Fateen, T. El-Badry, 2007 .

Screening for parental mitotic nondisjunction as a cause of fetal aneuploidy

Khaled M Refaat, S. Temtamy, M. Aglan, 2018 .

Clinical and molecular characterization in a cohort of patients with progressive pseudorheumatoid dysplasia.

S. Temtamy, M. Aglan, N. Kholoussi, 2023, American journal of medical genetics. Part A.

The Coffin-Lowry syndrome: a simply inherited trait comprising mental retardation, faciodigital anomalies and skeletal involvement.

J. Dorst, K. Kenyon, S. Temtamy, 1975, Birth defects original article series.

Karyotype/phenotype correlation in females with short stature

S. Temtamy, I. Ghali, M. Salam, 1992, Clinical genetics.

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

S. Temtamy, 2005, Clinical dysmorphology.

MEDICAL GENETICS 1962.

V. McKusick, E. Murphy, W. M. Ginn, 1963, Journal of chronic diseases.

A report of three patients with MMP2 associated hereditary osteolysis.

A. Zankl, S. Temtamy, M. Aglan, 2012, Genetic counseling.

MEDICAL GENETICS 1963.

V. McKusick, Richard M. Goodman, H. Abbey, 1964, Journal of chronic diseases.

Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene

S. Temtamy, M. Essawi, E. Fateen, 2021, Journal of Genetic Engineering and Biotechnology.

Expanding the phenotypic spectrum of the Baller-Gerold syndrome.

S. Temtamy, M. Aglan, M. Eid, 2003, Genetic counseling.

Females with Gonadal Dysgenesis: Cytogenetic and Molecular Analysis

S. Temtamy, I. Hussein, M. Mekkawy, 2008 .

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

D. Nelson, G. Herrero-Beaumont, C. Hawkins, 2019, Nature Communications.

Lenz microphthalmia syndrome: three additional cases with rare associated anomalies.

N. Meguid, S. Temtamy, S. Ismail, 2000, Genetic counseling.

The DR syndrome or the Okihiro syndrome?

S. Temtamy, 1986, American journal of medical genetics.

Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings.

S. Temtamy, S. Ismail, N. Helmy, 2006, Genetic counseling.

Identification of Mediterranean beta-thalassemia mutations by reverse dot-blot in Italians and Egyptians.

G. Romeo, S. Temtamy, I. Hussein, 1997, Hemoglobin.

Brachydactyly

S. Temtamy, M. Aglan, 2008, Orphanet journal of rare diseases.

The Laurence-Moon-Bardet-Biedl syndrome in sibs.

S. Temtamy, B. Shalash, 1975, Birth defects original article series.

Orodental, ear and eye anomalies in Egyptian Brachmann de Lange syndrome cases.

N. Meguid, S. Temtamy, M. El-Sawi, 1994, The Journal of the Egyptian Public Health Association.