Zobrazeno 1 - 10
of 131
pro vyhledávání: '"S A, Temtamy"'
Autor:
Hauser, Gertrud
Publikováno v:
Anthropologischer Anzeiger, 1982 Mar 01. 40(1), 73-73.
Externí odkaz:
https://www.jstor.org/stable/29539314
Autor:
S, Ismail, M, Essawi, N, Sedky, H, Hassan, A, Fayez, N, Helmy, M, Shehab, D, Farouk, M, Elruby, G, Otaify, A, Eldarsh, L, Hosny, K, Gaber, E H A, Aboul-Ezz, M I, Ramzy, M I, Mehrez, N F, Hassib, S M A, Elhadidi, M S, Aglan, S A, Temtamy
Publikováno v:
Genetic counseling (Geneva, Switzerland). 27(3)
The Roberts syndrome (RBS) is a rare autosomal recessive disorder caused by mutation in ESCO2 gene. Among over 150 reported international cases, 16 cases are Egyptian including the presently reported patients. The current study reports 8 new Egyptian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ee77a80c6475b896ceb67594688495d8
https://pubmed.ncbi.nlm.nih.gov/30204960
https://pubmed.ncbi.nlm.nih.gov/30204960
Autor:
M S Rady, G V Sciarratta, Ibtessam R. Hussein, A S Khalifa, S A Temtamy, M Baffico, N M Heshmat, S el-Moselhy, G Romeo
Publikováno v:
Scopus-Elsevier
beta-Thalassemia is a significant public health problem in Egypt where over 1000 of the annual 1.5 million newborns are expected to be affected with this disorder. A preventive program of the disease should be multifaceted with its technical componen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb0b129aea1ba2ca36a47f7bb282066e
https://doi.org/10.3109/03630269708997511
https://doi.org/10.3109/03630269708997511
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
https://pubmed.ncbi.nlm.nih.gov/22876575
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
https://pubmed.ncbi.nlm.nih.gov/22611641
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
https://pubmed.ncbi.nlm.nih.gov/20429316
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
https://pubmed.ncbi.nlm.nih.gov/15844783
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
https://pubmed.ncbi.nlm.nih.gov/12519373
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
https://pubmed.ncbi.nlm.nih.gov/9160185
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
https://pubmed.ncbi.nlm.nih.gov/8818452