نتایج جستجو برای: genetic disorders
تعداد نتایج: 1235793 فیلتر نتایج به سال:
background :5httlpr polymorphism (5- hydroxytryptamine transporter linked promoter region polymorphism) is the most widely studied genetic variant in psychiatry. the present study is a modest effort at ascertaining the role of 5ht transporter linked promoter region polymorphism (5httlpr) in anxiety and depressive disorders in kashmir (india).the aim of this study was to examine 5-hydroxy trypta...
The Frequency of Consanguinity and Its Related Factors in Parents of Children with Genetic Disorders
Background and Objective: Consanguinity increases the incidence of genetic disorders. The frequency of consanguinity varies in different societies. There was no data regarding the frequency of consanguinity in Zanjan province. This study aimed to describe the prevalence of consanguineous unions in the parents of children with genetic disorders and its related factors in Zanjan, Iran. Materials...
More than 127 loci are actually known to affect pigmentation in mouse when they are mutated. From embryogenesis to transfer of melanin to the keratinocytes or melanocytes survival, any defect is able to alter the pigmentation process. Many gene mutations are now described, but the function of their product protein and their implication in melanogenesis are only partially understood. Each geneti...
Osteogenesis imperfecta, Ehlers-Danlos syndrome, and Marfan syndrome form a group of genetic disorders of connective tissue. These disorders exhibit remarkable clinical heterogeneity which reflects their underlying biochemical and molecular differences. Defects in collagen types I and III have been found in all three syndromes.
The syndrome of autism has been documented as occurring in association with a wide variety of genetic conditions. Autistic patients with a coexistent genetic condition, however, are not behaviorally or developmentally distinct from autistic patients for whom there is no known etiology or associated organic condition. This report reviews the literature linking autistic behavior with genetic cond...
mental retardation (mr) is one of the most frequently found major genetic disorders around the world, affecting 1-3% of the people in the general population. the recent advancement in molecular biology and cytogenetic study has made possible the identification of new genes for a variety of genetic disorders including autosomal recessive mr. recessive genetic disorders are common in pakistan due...
anxiety comprises many clinical descriptions and phenotypes. a genetic predisposition to anxiety is undoubted; however, the nature and extent of that contribution is still unclear. extensive genetic studies of the serotonin (5-hydroxytryptamine, 5-ht) transporter (5-htt) gene have revealed how variation in gene expression can be correlated with anxiety phenotypes. complete genome-wide linkage s...
Anxiety comprises many clinical descriptions and phenotypes. A genetic predisposition to anxiety is undoubted; however, the nature and extent of that contribution is still unclear. Extensive genetic studies of the serotonin (5-hydroxytryptamine, 5-HT) transporter (5-HTT) gene have revealed how variation in gene expression can be correlated with anxiety phenotypes. Complete genome-wide linkage s...
Mental retardation (MR) is one of the most frequently found major genetic disorders around the world, affecting 1-3% of the people in the general population. The recent advancement in molecular biology and cytogenetic study has made possible the identification of new genes for a variety of genetic disorders including autosomal recessive MR. Recessive genetic disorders are common in Pakistan due...
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