نتایج جستجو برای: consanguineous pakistani family
تعداد نتایج: 425994 فیلتر نتایج به سال:
PURPOSE To identify the gene mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in Pakistani families. METHODS A cohort of consanguineous families with typical RP phenotype in patients was screened by homozygosity mapping using microsatellite markers that mapped close to 21 known arRP genes and five arRP loci. Mutation analysis was performed by direct sequencing of the ...
We report a mutation in the connexin 26 gene (Cx26) in a consanguineous Moroccan family linked to the DFNA3/DFNB1 locus on human chromosome 13q11-q12. Affected subjects display congenital, bilateral, sensorineural hearing loss. We have previously identified Cx26 mutations in consanguineous Pakistani families. This current finding indicates that Cx26 mutations are not restricted to ethnically an...
PURPOSE To map the disease locus in a four-generation, consanguineous Pakistani family affected by autosomal dominant congenital nuclear cataract (adNCat). All affected individuals had early onset of bilateral nuclear cataract. METHODS Genomic DNA from family members was typed for alleles at more than 300 known polymorphic genetic markers by polymerase chain reaction. The lod scores were calc...
Although generally a sporadic disease, a few cases of Guillain Barre syndrome clustered in families have been reported. We describe four siblings of a Pakistani family from a consanguineous marriage out of whom two developed definite GBS and two had probable GBS at different times. This suggests that there may be a genetic element in the pathogenesis of at least some forms of Guillain Barre syn...
OBJECTIVE To investigate the genetic basis and molecular characteristics of the isolated form of ectopia lentis. METHODS We ascertained a consanguineous Pakistani family with multiple individuals with ectopia lentis. All affected as well as unaffected members with isolated ectopia lentis underwent detailed ophthalmologic and medical examination. Blood samples were collected and DNA was extrac...
PURPOSE To identify the pathogenic mutations responsible for autosomal recessive congenital cataracts in consanguineous Pakistani families. METHODS All affected individuals underwent detailed ophthalmologic and medical examination. Blood samples were collected and genomic DNA was extracted. A genome-wide scan was performed with polymorphic microsatellite markers on genomic DNA from affected a...
PURPOSE To determine the cause of Leber congenital amaurosis (LCA) and developmental cataracts in a consanguineous Pakistani family. METHODS The diagnosis was established in all affected individuals of a Pakistani LCA family by medical history, funduscopy, and standard ERG. We performed genome-wide linkage analysis for mapping the disease locus in this family. RESULTS Congenitally severely ...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید