Výsledky vyhledávání - "S A, Temtamy"

A report of three patients with MMP2 associated hereditary osteolysis

Autor: S A, Temtamy, S, Ismail, M S, Aglan, A M, Ashour, L A, Hosny, T H, El-Badry, E H A, Aboul-Ezz, K, Amr, E, Fateen, T, Maguire, K, Ungerer, A, Zankl

Publikováno v: Genetic counseling (Geneva, Switzerland). 23(2)

Osteolysis syndromes are rare hereditary disorders characterized by destruction and resorption of affected bones. The current study adds three new patients from two unrelated consanguineous families with a severe form of inherited osteolysis. Clinica

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1e6963cad11948541077304619e46f5d
https://pubmed.ncbi.nlm.nih.gov/22876575

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Clinical and cytogenetic study of a case with familial chromosomal translocation presenting with facial dysmorphism and axial neuropathy

Autor: H T, El-Bassyouni, M, Shehab, H M, Kora, S A, Temtamy

Publikováno v: Genetic counseling (Geneva, Switzerland). 23(1)

We report on a 9-year-old female patient presenting with muscle weakness, facial dysmorphism and mild mental retardation. She had low birth weight, developmental delay, hypotonia and hyporeflexia and difficulties in climbing the stairs. EMG revealed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ca7636c34e2d9ef4fd487665268f6245
https://pubmed.ncbi.nlm.nih.gov/22611641

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

Autor: H H, Afifi, M O, El-Ruby, H T, El-Bassyouni, S I, Ismail, M S, Aglan, A A, El-Harouni, I M, Mazen, M S, Zaki, R I, Bassiouni, L A, Hosny, G Y, El-Kamah, A I, El-Kotoury, A M, Ashour, G M, Abdel-Salam, M A, El-Gammal, K, Hamed, R M, Kamal, I, El-Nekhely, S A, Temtamy

Publikováno v: Bratislavske lekarske listy. 111(2)

This study presents the prevalence, relative frequency, and analysis of genetic diseases/malformations in 73260 individuals. Cases included were ascertained from: Pediatric outpatient clinics of two governmental hospitals and two primary health care

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fc6d19cbb0c73131ae8cd4f7fd136b7e
https://pubmed.ncbi.nlm.nih.gov/20429316

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

Autor: M I, Mostafa, S A, Temtamy, M A, el-Gammal, I M, Mazen

Publikováno v: Genetic counseling (Geneva, Switzerland). 16(1)

Ellis-van Creveld (EVC) syndrome (chondroectodermal dysplasia, mesoectodermal dysplasia, OMIM 225500) is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly and dysplastic nails and teeth. Oral ma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::91dc10185d7f8863f1b39c169474c9bf
https://pubmed.ncbi.nlm.nih.gov/15844783

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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

Autor: Y Z, Gad, I, Mazen, S, Lumbroso, S A, Temtamy, C, Sultan

Publikováno v: Clinical genetics. 63(1)

Androgen-insensitivity syndrome (AIS) is a major cause of male pseudohermaphroditism (MPH). Although AIS is usually reported as a monogenic disease resulting from androgen receptor (AR) mutations, on rare occasions it has been observed as part of a m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::acb3ba5c74d1a5d6a9c207df3709ddea
https://pubmed.ncbi.nlm.nih.gov/12519373

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Molecular analysis of androgen resistance syndromes in Egyptian patients

Autor: M, Essawi, Y Z, Gad, O, el-Rouby, S A, Temtamy, Y A, Sabour, M K, el-Awady

Publikováno v: Disease markers. 13(2)

Androgen resistance syndromes [i.e. 5 alpha-reductase deficiency (5 alpha RD) and androgen receptor (AR) defects] are frequently reported among Egyptian intersex patients. This study examined AR and 5 alpha-reductase 2 (5 alpha R2) gene mutations amo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4bc258d9698bf15f80969a215e1e0845
https://pubmed.ncbi.nlm.nih.gov/9160185

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New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism absent corpus callosum, iris colobomas and connective tissue dysplasia

Autor: S A, Temtamy, M A, Salam, E H, Aboul-Ezz, H A, Hussein, S A, Helmy, B A, Shalash

Publikováno v: Clinical dysmorphology. 5(3)

We report three sibs, one boy and two girls, with a similar MCA/MR syndrome, where parents were first cousins. They had macrodolichocephaly, an elongated face, apparently low-set simple ears, hypertelorism, bilateral "key-hole' colobomata of the iris

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9a6f711bc63f3dded2967c61ae785f0c
https://pubmed.ncbi.nlm.nih.gov/8818452

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

Autor: S A, Temtamy, E H, Aboul-Ezz, A H, Simbawy, A L, Mouenis, N A, Meguid, M, El-Sawi

Publikováno v: The Journal of the Egyptian Public Health Association. 69(3-4)

The Brachmann de Lange syndrome (BDLS), first described in its full clinical presentation by Brachmann (1916) and Cornelia de Lange (1933) is a multi-system syndrome involving congenital malformations, growth retardation and neurodevelopmental delay.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::73ca6528373c6c6c5d697dc4cc704a9b
https://pubmed.ncbi.nlm.nih.gov/17265636

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