Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Eman Aboul-Ezz"'
1
Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene
Autor: Heba A. Hassan, Hanan Abd Elmawgoud Atia, Samia A. Temtamy, Ekram M. Fateen, Eman Aboul-Ezz, Mona M. Ibrahim, Mona L. Essawi, Noura R. Eissa
Publikováno v: Journal of Genetic Engineering & Biotechnology
Journal of Genetic Engineering and Biotechnology, Vol 19, Iss 1, Pp 1-10 (2021)
Background Mucolipidosis II (ML II α/β) is an inherited lysosomal storage disorder caused by deficiency of GlcNAc-phosphotransferase enzyme and results in mis-targeting of multiple lysosomal enzymes. Affected patients are characterized by skeletal
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::768162f8d51b257070092992cd7cd319
https://doi.org/10.1186/s43141-021-00204-4
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2
GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion
Autor: Mona Aglan, Mohamed Abdel‐Kader, Ghada A. Otaify, Ghada M H Abdel-Salam, Samira Ismail, Marian Y. Girgis, Mahmoud Y. Issa, Eman Aboul-Ezz, Inas Mazen, Mohamed S. Abdel-Hamid, Samia A. Temtamy, Maha S. Zaki
Publikováno v: American Journal of Medical Genetics Part A. 179:237-242
GAPO syndrome is a very rare disorder characterized by growth retardation, alopecia, pseudoanodontia and progressive optic atrophy. It is caused by biallelic mutations in the ANTXR1 gene. Herein, we describe the clinical and molecular findings of sev
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3252225a8cb0a180e878b6e43ce4167
https://doi.org/10.1002/ajmg.a.61021
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3
The scope of orodental genetics
Autor: Tarek H. El-Badry, Eman Aboul-Ezz, Sahar M.A. El-Hadidi, Samia A. Temtamy
Publikováno v: Middle East Journal of Medical Genetics. 6:49-60
The mouth is the mirror of a person’s body, and the facial complex reflects the genetic profile. The head and face present complex morphology. Genetic factors determine the morphology of the face, teeth, jaw, palate, and many of the salivary consti
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9c197cc63192b316e0b20c729d751c14
https://doi.org/10.1097/01.mxe.0000521017.17904.8f
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4
Effect of diode laser on antioxidant enzymes of salivary glands in diabetic rats
Autor: Ekram M. Fateen, Laila A. Rashed, Sahar M.A. El-Hadidi, Hussein Yehia, Amr G. Sobhy, Hoda A. El-Sadek, Eman Aboul-Ezz
Publikováno v: Middle East Journal of Medical Genetics. 6:35-40
IntroductionDiabetes mellitus is a heterogenous clinical disorder, a genetically complex disease, with both genetic and environmental factors contributing to its development. It constitutes a major public health problem. Elevated blood glucose level
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f9b6f5fcbbd2076d0330766c31ba9967
https://doi.org/10.1097/01.mxe.0000511217.73400.64
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5
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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6
Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations
Autor: Inas Mazen, Ghada A. Otaify, Mona Aglan, Samira Ismail, Eman Aboul-Ezz, Samia A. Temtamy, Mennat I Mehrez, Adel M. Ashour, Mona O. El-Ruby, Khalda Amr, Mohamed S. Abdel-Hamid
Publikováno v: American journal of medical genetics. Part A. (12)
Robinow syndrome (RS) is a rare genetic disorder characterized by limb shortening, genital hypoplasia, and craniofacial/orodental abnormalities. The syndrome follows both autosomal dominant and recessive patterns of inheritance with similar phenotypi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80a9574788e8fb982c7fae46470f1b1f
https://pubmed.ncbi.nlm.nih.gov/26284319
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