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Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients
This study provided an NGS-based approach of the genetic causes of developmental regression and neurodeg enerative diseases as it comprised different variants and de novo mutations with complex phenotypes of these diseases which in turn help in early diagnoses and counseling for affected families.
Source: Neurogenetics - November 26, 2022 Category: Genetics & Stem Cells Source Type: research

Pharmacogenetic and clinical predictors of response to clopidogrel plus aspirin after acute coronary syndrome in Egyptians
Conclusion These results highlight that CYP2C19*2, along with diabetes, and use of proton pump inhibitor and statin are important factors jointly associated with variability in clinical response to DAPT following ACS in Egyptians.
Source: Pharmacogenetics and Genomics - September 1, 2018 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

Genetic study of the NOTCH3 gene in CADASIL patients
ConclusionWe found four novel mutations (P109T, P203H, IVS7 + 15A>G and IVS7 + 16A>G) and 2 reported NOTCH3 mutations. Exon 4 and Intron 7 are hotspots in the patients we examined with the NOTCH3 mutations. These findings broaden the mutational spectrum of CADASIL.
Source: Egyptian Journal of Medical Human Genetics - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Association between Interleukin-18 promoter polymorphisms and risk of ischemic stroke: A case-control study
Conclusion This study concludes that IL-18 −607AA genotype and A allele may be risk factors to IS, whereas IL-18 −137GC genotype and C allele may be protective factors against IS in Egyptian population.
Source: Egyptian Journal of Medical Human Genetics - October 14, 2017 Category: Genetics & Stem Cells Source Type: research