Egyptian Journal of Medical Human Genetics

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Exome sequencing identifies a novel GUCY2D mutation in an Iranian family with Leber congenital amaurosis-1: a case report
Egyptian Journal of Medical Human Genetics - Tập 23 - Trang 1-4 - 2022
Mostafa Neissi, Adnan Issa Al-Badran, Javad Mohammadi-Asl
Leber congenital amaurosis (LCA), the severe form of inherited retinal degenerative disorder, is a prevalent disorder in the first year of life. Recently, genetic studies discovered that different gene mutations are responsible for LCA clinical manifestations. In this study, we applied whole exome sequencing (WES) to identify probable gene defects in an Iranian girl with LCA-1. We found a novel d...... hiện toàn bộ
A retrospective study of cases diagnosed with cystic fibrosis at a single care center in Syria
Egyptian Journal of Medical Human Genetics - - 2021
Raghad Al-Baba, Almoutassem Billah Zetoune
Abstract Background Although there is relatively much information about the status of cystic fibrosis disease in different countries of the world, limited data are available on this disease among Syrian children. Therefore, we did a retrospective study that included 173 children diagnosed with cysti...... hiện toàn bộ
Oral–Facial–Digital Syndrome type VI with self mutilations
Egyptian Journal of Medical Human Genetics - Tập 15 - Trang 399-403 - 2014
Rabah M. Shawky, Heba Salah Abd-Elkhalek Elabd, Shaimaa Gad, Radwa Gamal, Shaimaa Abdelsattar Mohammad
Association between genetic polymorphism of XRCC7 (G6721T) and risk of acute lymphoblastic leukemia
Egyptian Journal of Medical Human Genetics - Tập 21 - Trang 1-4 - 2020
Farnoush Farokhian, Zahra Beyzaei, Mani Ramzi, Bita Geramizadeh
The DNA non-homologous end joining repair gene XRCC7 is one of the most important genes in the DNA double-strand break (DSBs) repair. It is supposed that DNA repair gene malfunction is the main risk factor in various malignancies. The XRCC7 G6721T (rs7003908) polymorphism impact was investigated on the splicing regulation that cause mRNA instability. The goal of the present hospital-based study wa...... hiện toàn bộ
Mitochondrial alterations in children with chronic liver disease
Egyptian Journal of Medical Human Genetics - Tập 11 - Trang 143-151 - 2010
Rabah M. Shawky, Tawheeda Y. Abdel-Gaffar, Mohamed S. Eladawy, Mohamed A. El-Etriby, Magda S. ElMoneiri, Nadia G. Elhefnawy, Rasha Elsherif, Sahar M. Nour El-Din
Mendel paved the path toward understanding genetic diseases
Egyptian Journal of Medical Human Genetics - Tập 23 - Trang 1-3 - 2022
Sreejon Sundar Das
July 20th, 2022, marks the 200th anniversary of the “Father of Genetics,” Gregor Mendel’s birth. His experiments with pea plants established the fundamental principles of genetic inheritance. In this article, a succinct review of literature is hereby done to answer two key questions: (1) How Mendel’s principles of genetic inheritance helped us understand Mendelian disorders? and (2) How the study...... hiện toàn bộ
Implications of mitochondrial DNA variants in pediatric B-cell acute lymphoblastic leukemia
Egyptian Journal of Medical Human Genetics - Tập 23 Số 1
Ayushi Jain, Amit Katiyar, Ritika Singh, Sameer Bakhshi, Harpreet Singh, Jayanth Kumar Palanichamy, Archna Singh
Abstract Background Research on the role of variations in the mitochondrial genome in pathogenesis of acute lymphoblastic leukemia (ALL) has been unfolding at a rapid rate. Our laboratory has previously described higher number of copies of the mitochondrial genomes per cell in pediatric ALL patients...... hiện toàn bộ
COVID-19 susceptibility: potential of ACE2 polymorphisms
Egyptian Journal of Medical Human Genetics - Tập 21 - Trang 1-8 - 2020
Mayank Chaudhary
Angiotensin-converting enzyme 2 (ACE2) is a metallopeptidase that primarily functions as a negative regulator of renin angiotensin system (RAS) by converting angiotensin II (Ang II) to angiotensin 1-7. Contrary to this, another RAS component, angiotensin-converting enzyme (ACE) catalyzes synthesis of Ang II from angiotensin I (Ang I) that functions as active compound in blood pressure regulation. ...... hiện toàn bộ
Null genetic risk of ACE gene polymorphisms with nephropathy in type 1 diabetes among Egyptian population
Egyptian Journal of Medical Human Genetics - Tập 12 - Trang 187-192 - 2011
Nasser A. Elhawary, Neda Bogari, Mona Rashad, Mohammed T. Tayeb
Novel mutation as a cause of anterior segment dysgenesis leading to blindness in progeny: the genetics decoded!
Egyptian Journal of Medical Human Genetics - Tập 25 - Trang 1-5 - 2024
Kumari Pritti, Vineet Mishra, Somesh Aggarwal, Mehul Mistri, Manisha Chhetry
Anterior segment dysgenesis (ASD) disorders comprises of spectrum of developmental conditions affecting the structures of angle of anterior chamber including cornea, iris, and lens. These conditions are characterized by both autosomal dominant and recessive patterns of inheritance often with incomplete penetrance/variable expressivity. A significant overlap among phenotypes attributed to mutations...... hiện toàn bộ
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