نتایج جستجو برای: linked genetic disease
تعداد نتایج: 2159503 فیلتر نتایج به سال:
In order to select the best parents for crossings, plant breeders seek varieties or genotypes with highest genetic dissimilarities. This can be achieved by measuring the similarities among genotypes, using multivariate analysis methods such as cluster analysis. This study aimed to group 50 aerobic and lowland rice genotypes based on biochemical characteristics including Iron, Zinc, Manganese an...
age-related macular degeneration (amd) is the leading cause of blindness in old subjects. it is a multifactorial disease with both environmental and genetic factors playing some role in its pathogenesis. similar to many other genetic diseases, the inheritance pattern of amd does not fit into simple mendelian rules. these diseases are caused by the presence of multiple genetic factors and are ca...
The palmoplantar keratodermas are a heterogenous group of hereditary disorders of keratinization. They are characterized by epidermal thickening and a yellow waxy appearance of the palms and soles. Genetic studies have linked various forms of palmoplantar keratoderma to markers on chromosomes one, twelve, and seventeen, and several genes have been identified. Primary lymphedema is occasionally ...
This thesis is concerned with the analysis of association between genetic markers and disease. We consider a scenario where it is known that a genetic region of interest has a tendency to be transmitted intact from parent to offspring. The region is said to be linked. The hope is that a mutation involved in the causal pathway of the disease is contained in the linked region, and that we can pin...
The science of medical genetics is progressing rapidly. The practical importance of this progress should be considered by medical doctors. Both genetic and environmental factors are involved in the abnormail phenotypes considered diseases. The relative significance of the two factors varies from disease to disease. All diseases can be viewed as falling on a spectrum in this regard. Hereditary...
BACKGROUND Whole-exome sequencing is a diagnostic approach for the identification of molecular defects in patients with suspected genetic disorders. METHODS We developed technical, bioinformatic, interpretive, and validation pipelines for whole-exome sequencing in a certified clinical laboratory to identify sequence variants underlying disease phenotypes in patients. RESULTS We present data...
In contrast to the common and genetically complex senile form of Alzheimer's disease (AD), the molecular genetic dissection of inherited presenile dementias has given important mechanistic insights into the pathogenesis of degenerative brain disease. Here, we focus on recent genotype-phenotype correlative studies in presenile AD and the frontotemporal dementia (FTD) complex of disorders. Togeth...
background: a common human leukocyte antigen (hla) class ii allele, dqβ1*03:01, seems to be associated with bullous pemphigoid (bp) in caucasians whereas previous studies in other ethnic groups showed other hla class ii alleles as genetic predisposing factors for bp. objective: to investigate the association of hla class ii alleles and haplotypes with bp in iranian population. methods: fifty pa...
Preimplantation genetic diagnosis (PGD) is a reproductive technology used with an in vitro fertilization (IVF) cycle to increase the potential for a successful pregnancy and delivery. The most common applications for PGD include testing for extra or missing chromosomes (aneuploidy screening), familial structural chromosome rearrangements, and diagnosis of genetic disease in couples of increased...
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