Egyptian Journal of Medical Human Genetics

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ABO blood grouping and COVID-19: a hospital-based study in Eastern India
Egyptian Journal of Medical Human Genetics - - 2022
B.F.Sc. Harapriya Behera, Bidyutprava Rout, RajashreePanigrahy, Subrat Kumar Kar, Debasish Sahoo, Kundan Kumar Sahu, Sarita Otta
Abstract Background Blood group has been stated to be one of the risk factors associated with viral diseases like dengue, hepatitis virus, Norwalk virus and even the coronavirus associated with 2003 severe acute respiratory syndrome (SARS) outbreak. In addition, anti-A antibodies in experimental models have been shown to inhibit the interaction between coronavirus and angiotensin converting enzyme... hiện toàn bộ
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 di... hiện toàn bộ
Salivary PCR detection of Helicobacter pylori DNA in Egyptian patients with dyspepsia
Egyptian Journal of Medical Human Genetics - Tập 12 - Trang 211-216 - 2011
Moataz M. Sayed, Wesam A. Ibrahim, Sameh A. Abdel-bary, Sara M. Abdelhakam, Sherin A. El-Masry, Dalia Ghoraba
Genotype association of IP6K3 gene with Hashimoto’s thyroiditis in Algerian population (Aures region)
Egyptian Journal of Medical Human Genetics - - 2020
Warda Kherrour, Dean Kaličanin, Luka Brčić, Leila Hambaba, Mouloud Yahia, S. Benbia, Vesna Boraska Perica
Abstract Background Hashimoto’s thyroiditis (HT) is a chronic autoimmune disease of the thyroid gland and is also the main cause of hypothyroidism. A recent genome-wide association study (GWAS) suggested an association of three novel genetic variants with HT in a population of Caucasian origin (Croatian). A case-control study was performed to investigate the association of these three newly sugges... hiện toàn bộ
Simultaneous detection of respiratory syncytial virus types A and B and influenza virus types A and B in community-acquired pneumonia by reverse transcription-multiplex PCR
Egyptian Journal of Medical Human Genetics - Tập 13 - Trang 155-159 - 2012
Tharwat Ezzat Deraz, Mervat Gamal Eldin Mansour, Sherin Albendary, Ahmed Mohamed Abdelwahab
Porphyrins profile by high performance liquid chromatography/electrospray ionization tandem mass spectrometry for the diagnosis of porphyria
Egyptian Journal of Medical Human Genetics - Tập 12 - Trang 49-58 - 2011
E. Fateen, A. Abd-Elfattah, A. Gouda, L. Ragab, W. Nazim
Novel pyrroline-5-carboxylate reductase 2 (PYCR2) mutation in an Iranian patient with hypomyelinating leukodystrophy: findings of molecular and in silico investigations
Egyptian Journal of Medical Human Genetics - Tập 24 - Trang 1-8 - 2023
Maryam Akbari, Zeinab Ebrahimi Tapeh, Mona Zaersabet, Hamzeh Rahimi, Maziar Ganji
Hypomyelinating leukodystrophy (HLD) is a specific group of leukodystrophies and is characterized by progressive postnatal growth delay that represents a type of clinically overlapping but genetically heterogeneous diseases with autosomal recessive inheritance. Loss-of-function mutations in PYCR2 are one of the main causes of HLD type 10 (HLD10), which is identified by cerebral hypomyelination, in... hiện toàn bộ
Berardinelli–Seip syndrome type 2 – An Egyptian child
Egyptian Journal of Medical Human Genetics - Tập 16 Số 2 - Trang 189-193 - 2015
Markers of neural degeneration and regeneration in Down syndrome patients
Egyptian Journal of Medical Human Genetics - Tập 14 - Trang 49-53 - 2013
Iman Ehsan Abdel-Meguid, Ekram Abdel-Salam, Doaa M Abdel Latif, Soheir Korraa, Amal Ismaiel
Angiotensin-converting enzyme insertion/deletion (I/D) gene polymorphism in Iraqi type 2 diabetic patients: association with the risk of cardiac autonomic neuropathy
Egyptian Journal of Medical Human Genetics - Tập 21 - Trang 1-7 - 2020
Muhanad M. Dhumad, Farqad B. Hamdan, Qasim S. Al-Mayah
Studies have shown a direct association between angiotensin-converting enzyme (ACE) and diabetic neuropathies. As such, ACE gene polymorphisms could be a risk factor for cardiac autonomic neuropathy (CAN) in patients with diabetes. The objective of our study was to investigate the association of the ACE I/D gene polymorphism with the development of CAN in Iraqi patients with type 2 diabetes mellit... hiện toàn bộ
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