Browsing by Author "Al-Shafai, Mashael"
Now showing items 1-11 of 11
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Association of Vitamin D Genetic Risk Score with Noncommunicable Diseases: A Systematic Review
( MDPI , 2023 , Article)Background and Aims: The genetic risk score (GRS) is an important tool for estimating the total genetic contribution or susceptibility to a certain outcome of interest in an individual, taking into account their genetic ... -
The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar
( Springer Nature , 2024 , Article)Hearing loss is the most predominant sensory defect occurring in pediatrics, of which, 66% cases are attributed to genetic factors. The prevalence of hereditary hearing loss increases in consanguineous populations, and the ... -
The genetic elucidation of monogenic obesity in the Arab world: a systematic review
( J Pediatr Endocrinol Metab , 2022 , Article)Background: Investigation of monogenic obesity (MO), a rare condition caused by a single gene variant(s), especially in consanguineous populations, is a powerful approach for obtaining novel insights into the genetic ... -
The Interplay Between Diet and the Epigenome in the Pathogenesis of Type-1 Diabetes
( Frontiers , 2021 , Article Review)The autoimmune disease, Type 1 Diabetes Mellitus (T1DM), results in the destruction of pancreatic β-cells, and the International Diabetes Federation reports that its incidence is increasing worldwide. T1DM is a complex ... -
Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry
( Multidisciplinary Digital Publishing Institute (MDPI) , 2022 , Article)Congenital heart disease (CHD) is one of the most common forms of birth defects worldwide, with a prevalence of 1–2% in newborns. CHD is a multifactorial disease partially caused by genetic defects, including chromosomal ... -
Knowledge and Perception of and Attitude toward a Premarital Screening Program in Qatar: A Cross-Sectional Study
( MDPI , 2022 , Article)Premarital screening (PMS) is a primary preventive measure to decrease the incidence of certain genetic disorders and sexually transmitted diseases. This study aimed to explore the knowledge and perception of and the ... -
Legal approaches to risk of harm in genetic counseling: perspectives from Quebec and Qatar
( Frontiers Media SA , 2023 , Article)Genetic counseling is a fast-growing profession worldwide, with genetic counselors taking on increasingly comprehensive and autonomous roles in the healthcare sector. However, the absence of appropriate legal frameworks ... -
Qatar’s genetic counseling landscape: Current insights and future prospects
( Elsevier , 2024 , Article)Genetic counseling is a dynamic and rapidly growing field. In Qatar, the significance of genetic counseling is underscored by the distinctive demographic characteristics of the population, including elevated rates of ... -
The role of genetic and epigenetic GNAS alterations in the development of early-onset obesity
( Elsevier , 2023 , Article)BackgroundGNAS (guanine nucleotide-binding protein, alpha stimulating) is an imprinted gene that encodes Gsα, the α subunit of the heterotrimeric stimulatory G protein. This subunit mediates the signalling of a diverse ... -
The Special Features of Prenatal and Preimplantation Genetic Counseling in Arab Countries.
( MDPI , 2022 , Article Review)Genetic counseling services have only recently been introduced in most Arab countries, and their utilization is increasing. Prenatal genetic counseling is essential, particularly in the Arab context, which is characterized ... -
Understanding the genetics of early onset obesity in a cohort of children from Qatar.
( Oxford University Press , 2023 , Article)Monogenic obesity is a rare form of obesity due to pathogenic variants in genes implicated in the leptin-melanocortin signaling pathway and accounts for around 5% of severe early onset obesity. Mutations in the genes ...
