Výsledky vyhledávání

Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect

Autor: Mennat I Mehrez, Ghada A. Otaify, Mohamed Abdelhamid, Maha S. Zaki, Temtamy Sa, Eman Aboul-Ezz, Mona Aglan

Publikováno v: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA. 29(8)

This is the first Egyptian study with detailed clinical and orodental evaluation of eight patients with pycnodysostosis and identification of four mutations in CTSK gene with two novel ones and a founder effect. Pycnodysostosis is a rare autosomal re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7f91a2818cf0d3d20ad69b499c99c20
https://pubmed.ncbi.nlm.nih.gov/29796728

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

Autor: Magda H. El-Badramany, Temtamy Sa, Talaat I. Farag, Usha Rajaram, Makia J. Marafie, Sadika A. Al-Awadi

Publikováno v: American Journal of Medical Genetics. 66:261-264

We report on the first known Bedouin family with Greig cephalopolysyndactyly syndrome (MIM 175700). The index patient and his father shared pre- and postaxial polysyndactyly, mild mental retardation, and corpus callosum dysgenesis. Their phenotypic f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::883313c702c96309bc0e8daba211f56e
https://doi.org/10.1002/(sici)1096-8628(19961218)66:3<261::aid-ajmg4>3.0.co

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Clinical, anthropometric, radiological and molecular characteristics of Egyptian achondroplasia patients

Autor: Aglan, MS, Abdel-Aleem, AK, EL-Katoury, A IS, Hafez, MH, Saleem, SN, Otaify, GA, Temtamy, SA

Publikováno v: Egyptian Journal of Medical Human Genetics; Vol 10, No 1 (2009)

Background: Achondroplasia is the most common form of non lethal skeletal dysplasia. It is a fully penetrant autosomal dominant disorder and the majority of cases are sporadic resulting from de novo mutations associated with advanced paternal age. Th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=78975075580c::4b668c756260429ce468c6a87f8cb166
https://www.ajol.info/index.php/ejhg/article/view/44156

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

Autor: Temtamy, SA, Aglan, MS, El-Gammal, MA, Hosny, LA, Ashour, AM, El-Badry, TH, Awad, SA, Fateen, E

Publikováno v: Egyptian Journal of Medical Human Genetics; Vol 8, No 2 (2007); 147-172

Introduction: Spondylo-epi-metaphyseal dysplasias (SEMD) are a heterogeneous group of skeletal disorders characterized by defective growth and modeling of the spine and long bones. Different types are described in the literature. Accurate classificat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=78975075580c::9636e4dd1cf84c4bbb564486f2830e44
https://www.ajol.info/index.php/ejhg/article/view/42616

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COFS syndrome with familial 1;16 translocation

Autor: A. Mahmoud, A. Gerzawy, Maha S. Zaki, Temtamy Sa, Nagwa A. Meguid, Hanan H. Afifi

Publikováno v: Europe PubMed Central

We report on an Egyptian girl with phenotypic abnormalities of cerebro-oculofacio-skeletal syndrome. She had microcephaly, bilateral congenital cataract, nystagmus, long ear pinnae, camptodactyly, prominent heels, coxa valga, kyphosis and flexure con

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3d728866eafc0dcc553356951ad1369
https://pubmed.ncbi.nlm.nih.gov/9001808

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An epidemiological/genetic study of mental subnormality in Assiut Governorate, Egypt

Autor: Hanan H. Afifi, Mahmoud R. Kandil, W. Hassan, Nagwa A. Meguid, A. M. Demerdash, Temtamy Sa

Publikováno v: Clinical genetics. 46(5)

The aim of this investigation was to study the epidemiologic and genetic aspects of mental subnormality (MS) in Assiut Governorate, representing the Egyptian population. The sample comprised 3000 randomly selected subjects from three localities: one

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a8bc850485091c48b152fea5e2a63ab
https://pubmed.ncbi.nlm.nih.gov/7889643

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Cataract, hypertrichosis, and mental retardation (CAHMR): a new autosomal recessive syndrome

Autor: Abdel Hamid H. Sinbawy, Temtamy Sa

Publikováno v: American journal of medical genetics. 41(4)

We have studied 2 Egyptian sibs (the offspring of normal first cousins) with congenital cataract, hypertrichosis, mental retardation, and normal chromosomes. Review showed that the condition of our patients was not similar to any previously reported

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68dc0b2aed8a1c3d7ac9e1cc0708fac6
https://pubmed.ncbi.nlm.nih.gov/1776632

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