نتایج جستجو برای: multiplex ligation
تعداد نتایج: 42263 فیلتر نتایج به سال:
PURPOSE Retinoblastoma (RB), an intraocular tumor of childhood, is commonly associated with mutations in the RB1 gene. RB116 is a novel, early passage RB cell line that has not been previously characterized. In this study, we examined RB116 for the expression of RB1 and tested the hypothesis that RB116 cells would express stem cell markers as well as retinal progenitor cell markers. We compared...
OBJECTIVES Immunohistochemistry for DNA mismatch repair proteins is used to screen for Lynch syndrome in individuals with colorectal carcinoma (CRC). Although solitary loss of PMS2 expression is indicative of carrying a germline mutation in PMS2, previous studies reported MLH1 mutation in some cases. We determined the prevalence of MLH1 germline mutations in a large cohort of individuals with a...
BACKGROUND Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive renal disease characterized by tubular disorders at the thick ascending limb of Henle's loop. It is caused by mutations in the tight junction structural proteins claudin-16 or claudin-19, which are encoded by the CLDN16 and CLDN19 genes, respectively. Patients exhibit excessive wasting of c...
Introduction Neurofibromatosis type 2 is an autosomal dominant disease caused by mutations in the NF2 gene on 22q12.2. Its protein product, merlin, supposedly plays an important role in connecting membrane proteins with the cytoskeleton by coordinating growth-factor signalling. The most common mutations are truncating and splice site mutations, showing a genotype-phenotype correlation. A high r...
Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominantly inherited cancer predisposition syndrome caused by germ line mutations in DNA mismatch repair genes, predominantly MLH1 and MSH2, with large genomic rearrangements accounting for 5% to 20% of all mutations. Although crucial to the understanding of cancer initiation, little is known about the second, somatic hit in HNPC...
BACKGROUND The genetic characterization of chronic lymphocytic leukemia cells correlates with the behavior, progression and response to treatment of the disease. DESIGN AND METHODS Our aim was to investigate the role of ATM gene alterations, their biological consequences and their value in predicting disease progression. The ATM gene was analyzed by denaturing high performance liquid chromato...
objective: despite development of new contraceptive methods, sterilization remained the most widely used method. our objective was to determine the factors contributing to decision making for tubal ligation in females. materials and methods: a cross sectional study was conducted in jinnah post graduate medical centre (jpmc) between march - november 2008. about 505 females using contraceptive me...
Using Multiplex Amplifiable Probe Hybridization (MAPH) and Multiplex Ligation-dependent ProbeAmplification (MLPA) we have screened different cohorts of Duchenne/Becker Muscular Dystrophy (DMD/BMD) patients for duplications. In an unselected series the duplication frequency was 8%; in agroup of patients already screened for deletions and point mutations we found a duplication in 64% of<l...
Abstract The IDH-wild-type lower-grade astrocytomas are a heterogeneous entity. According to 2021 WHO classification, with any of the following factors show poor prognosis: combination chromosome 7 gain and 10 loss (+7/-10), and/or EGFR amplification, TERT promoter (TERTp) mutation. Multiplex ligation-dependent probe amplification (MLPA) can detect copy number alterations reasonable cost. purpo...
Autosomal dominant polycystic kidney disease (ADPKD) is the most common heritable disease. ADPKD leads to cysts, enlargement and end-stage renal mainly caused by variants in PKD1 PKD2, with truncating causing severe phenotype. This study aimed characterize Danish patients referred for screening of genes related cystic 147 families were analysed PKD1, PKD2 GANAB using next generation sequencing ...
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