Výsledky vyhledávání - "Sahar A. El Shafei"

Akademický článek

CYP1B1 and myocilin gene mutations in Egyptian patients with primary congenital glaucoma

Autor: Mahmoud R. Fassad, Asmaa K. Amin, Heba A. Morsy, Noha M. Issa, Nader H. Bayoumi, Sahar A. El Shafei, Soha F. Kholeif

Publikováno v: Egyptian Journal of Medical Human Genetics, Vol 18, Iss 3, Pp 219-224 (2017)

Purpose: Primary congenital glaucoma (PCG) accounts for 26–29% of childhood blindness in Egypt. The identification of disease causing mutations has not been extensively investigated. We aimed to examine the frequency of CYP1B1 and MYOC mutations in

Externí odkaz: https://doaj.org/article/54e8037177874d37823dad8d3512df30

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CYP1B1 and myocilin gene mutations in Egyptian patients with primary congenital glaucoma

Autor: Asmaa K. Amin, Heba Morsy, Soha F. Kholeif, Mahmoud R. Fassad, Noha M. Issa, Sahar A. El Shafei, Nader Hussein Lotfy Bayoumi

Publikováno v: Egyptian Journal of Medical Human Genetics, Vol 18, Iss 3, Pp 219-224 (2017)
Egyptian Journal of Medical Human Genetics; Vol 18, No 3 (2017); 219-224

Purpose Primary congenital glaucoma (PCG) accounts for 26–29% of childhood blindness in Egypt. The identification of disease causing mutations has not been extensively investigated. We aimed to examine the frequency of CYP1B1 and MYOC mutations in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10d3e3a2e1160d1e1779fa9c46467956
http://www.sciencedirect.com/science/article/pii/S1110863016300490

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A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity

Autor: Nihal M. El Shakankiri, Heba Morsy, Sahar A. El Shafei, Amira Nabil, Fowzan S. Alkuraya, Sateesh Maddirevula, Ahmed Habib

Publikováno v: European Journal of Medical Genetics. 63:103917

Auriculocondylar syndrome (ARCND, MIM #614669, #602483, and #615706); also known as ''question-mark ear syndrome'' or ''dysgnathia complex'', is a rare craniofacial malformation of first and second branchial arches with a prevalence of1/1,000,000. It

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::123a3defe82c5cf1c4adbae177a09d45
https://doi.org/10.1016/j.ejmg.2020.103917

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Frequency of Arg972-IRS-1 Variant among Type I Diabetic Patients in El-Shatby Patients in El-Shatby Pediatric Hospital, Alexandria, Egypt

Autor: Maged H. Zein El-Din, Sahar A. El-Shafei, Magdy O. Abdou, Mervat F. El-Belvesy

Publikováno v: Journal of High Institute of Public Health. 34:641-650

Several polymorphisms have been identified in the amino acid sequence of human insulin receptor substrate-1 [IRS-1]. The most prevalent one is glycine change to arginine at the codon 972 that was hypothesized to play a role in pancreatic ẞ-cell sti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b7fd60d7aaf4597521299962570a3d2e
https://doi.org/10.21608/jhiph.2004.187325

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Genetic determinants of essential hypertension

Autor: Sahar A, El-Shafei, Amal, Bassili, Nargues M, Hassanien, Mohamed M, Mokhtar

Publikováno v: The Journal of the Egyptian Public Health Association. 77(3-4)

This study aimed at determining the role of genetic and environmental risk factors in the development of essential hypertension in Alexandria, Egypt. A case-control-study was conducted in the Main Health Insurance Hospital, (MHI) Alexandria, Egypt, w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fe5ae3794f8cf3c915aa9a8de2c0c5e2
https://pubmed.ncbi.nlm.nih.gov/17216961

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