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Samia Temtamy

American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3613-3614

2021

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Brachydactyly

Orphanet journal of rare diseases, 2008-06, Vol.3 (1), p.15-15, Article 15

2008

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

Bone research, 2021-08, Vol.9 (1), p.39-39

2021

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FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta

Journal of medical genetics, 2018-04, Vol.55 (4), p.278

2018

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

Human mutation, 2014-08, Vol.35 (8), p.959-963

2014

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Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients’ management using bisphosphonates therapy

Osteoporosis international, 2022-07, Vol.33 (7), p.1501-1510

2022

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Genomic and phenotypic delineation of congenital microcephaly

Genetics in medicine, 2019-03, Vol.21 (3), p.545-552

2019

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Mutations in WNT1 Cause Different Forms of Bone Fragility

American journal of human genetics, 2013-04, Vol.92 (4), p.565-574

2013

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

Human mutation, 2012-02, Vol.33 (2), p.343-350

2012

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

Nature genetics, 2015-05, Vol.47 (5), p.528-534

2015

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Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum

American journal of medical genetics. Part A, 2022-06, Vol.188 (6), p.1815-1825

2022

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Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

American journal of human genetics, 2013-04, Vol.92 (4), p.598-604

2013

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A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management

American journal of medical genetics. Part A, 2024-01, Vol.194 (1), p.39-45

2024

Volltextzugriff (PDF)

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

Genetics in medicine, 2021-04, Vol.23 (4), p.679-688

2021

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

Disease models & mechanisms, 2019-06, Vol.12 (6)

2019

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CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum

American journal of medical genetics. Part A, 2023-08, Vol.191 (8), p.2100-2112

2023

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

Nature communications, 2019-02, Vol.10 (1), p.797-797, Article 797

2019

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

American journal of medical genetics. Part A, 2020-12, Vol.182 (12), p.2857-2866

2020

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Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease

Gene, 2017-02, Vol.600, p.48-54

2017

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

Human mutation, 2012-10, Vol.33 (10), p.1444-1449

2012

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Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations

Congenital anomalies, 2022-03, Vol.62 (2), p.68-77

2022

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Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling

American journal of human genetics, 2010-12, Vol.87 (6), p.757-767

2010

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

American journal of medical genetics. Part A, 2020-06, Vol.182 (6), p.1407-1420

2020

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The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1

American journal of human genetics, 2009-06, Vol.84 (6), p.801-806

2009

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Samia Temtamy

Brachydactyly

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

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta

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

Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients’ management using bisphosphonates therapy

Genomic and phenotypic delineation of congenital microcephaly

Mutations in WNT1 Cause Different Forms of Bone Fragility

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

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

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

Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum

Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management

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

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

CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum

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

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

Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease

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

Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations

Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling

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

The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1

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