نتایج جستجو برای: homozygosity mapping
تعداد نتایج: 200921 فیلتر نتایج به سال:
Homozygosity mapping is a common method to map recessive traits in consanguineous families. To facilitate these analyses, we have developed HomozygosityMapper, a web-based approach to homozygosity mapping. HomozygosityMapper allows researchers to directly upload the genotype files produced by the major genotyping platforms as well as deep sequencing data. It detects stretches of homozygosity sh...
Purpose To identify the genetic origins of autosomal recessive congenital cataracts (arCC) in the Pakistani population. Methods Based on the hypothesis that most arCC patients in consanguineous families in the Punjab areas of Pakistan should be homozygous for causative mutations, affected individuals were screened for homozygosity of nearby highly informative microsatellite markers and then s...
Objective: To identify the underlying genetic defect in a patient with intellectual disability, seizures, ataxia, macrothrombocytopenia, renal and cardiac involvement, and abnormal protein glycosylation. Methods: Genetic studies involved homozygosity mapping by 250K single nucleotide polymorphism array and SLC35A1 sequencing. Functional studies included biochemical assays for N-glycosylation an...
Until recently, a whole-genome scan using a set of 300400 polymorphic DNA microsatellite markers was considered the most favoured strategy for gene mapping in Mendelian disorders. In many situations, however, it has not been possible to unravel significant disease loci by using DNA markers spaced across the genome at 10 cM intervals. Nowadays, to facilitate gene mapping or genome-wide associati...
lps-responsive beige-like anchor (lrba) deficiency is a disease which has recently been described in a group of patients with common variable immunodeficiency (cvid) in association with autoimmunity and/or inflammatory bowel disease (ibd)-like phenotype. we here describe a 10-year-old boy who experienced recurrent infections, mainly in the respiratory system, associated with thrombocytopenia an...
Schizophrenia is a devastating psychiatric disorder that affects approximately 1% of the general population. Its complexity and enigmatic etiology place an economic and social burden on public health resources, while causing emotional distress for patients and their families. Twin, family, and adoption studies have shown evidence for a genetic component, but its complex pattern of inheritance h...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید