Mutation screening
High Resolution Melt analysis for mutation screening in PKD1 and PKD2
... In our facility, the price for one amplicon analysis with HRM is 1.52 $ (1.10 € ) compared to 4.64 $ (3.36 € ) with dHPLC [28]. In addition, HRM allows large fragment rearrangements detection in the same step. This ...
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Mutation screening of muscle development genes in patients with idiopathic clubfoot
... genome-wide screening of a four- generation family Figure 1 with 13 affected and 41 un- affected members identified linkage regions on chromo- some 3 and 13 (LOD score of ...genetic mutation ...
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Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2
... blinded mutation screening of the coding regions of the breast cancer susceptibility gene PALB2 on a set of 95 blood-derived DNA samples that had previously been screened using Sanger sequencing and ...
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Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient
... for mutation screening in the genes APP, PSEN1, and ...for mutation screening, we have devel- oped a protocol for analyzing the copy-number of APP ...
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Mutation Screening of ENAM, KLK4, MMP20 and FAM83H Genes among the Members of Five Iranian Families Affected with Autosomal Recessive Hypoplastic Amelogenesis Imperfecta
... of mutation screening in ENAM, KLK4, MMP20 and FAM83H genes, responsible for AIs development in five Iranian families in which the probands were diagnosed with autosomal recessive hypoplastic amelogenesis ...
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Mutation screening of melatonin-related genes in patients with autism spectrum disorders
... The goal of this study was to search for mutations in genes involved in the melatonin pathway in cases of ASD. To this end, we performed mutation screening of all the genes of the melatonin pathway (AA-NAT, ...
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Mutation Screening of BRCA Genes in 10 Iranian Males with Breast Cancer
... Male breast cancer is a rare disease with an increasing trend. Due to limited information especially about the genetic basis of the disease in Iran and the lower age of its onset, the disease requires more attention. The ...
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Comprehensive Mutation Screening in a Cystic Fibrosis Center
... tients with positive sweat tests were selected for SSCP/HA analysis based on clinical status, ethnicity, and previous screening with the Genzyme70 assay. Of the 20 alleles represented by this group, only 4 (20%) ...
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BRCA mutation screening and patterns among high-risk Lebanese subjects
... Germline mutations in BRCA1 and BRCA2 genes have important implications for treatment of patients diag- nosed with breast or ovarian cancers as well as unaffected carriers of these mutations. Various guidelines have been ...
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NRAS Q61R, BRAF V600E immunohistochemistry: a concomitant tool for mutation screening in melanomas
... et al. reported a similar case in an esophageal tumor [46]. These results concurred with those of Marin et al. for faint to moderate stained lesion [42]. Analyzing cir- culating melanoma cells, Hofman et al. reported 15 ...
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Phf8 gene mutation screening for rs121918522 in clinically identified children with siderius xlid
... nonsense mutation of PHF8 in intellectually disabled The selected mutation was a previously studied on patients with tures of the affected children was ...the mutation identification was carried out ...
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Whole Exome Sequencing for Mutation Screening in Hemophagocytic Lymphohistiocytosis
... Result: In this study, a homozygous nucleotide substitution mutation (c.551G>A:p.W184*) was detected in exon number six of the UNC13D gene. W184* drives to a premature stop codon, so produce a truncated ...
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Exome Sequencing and Epigenetic Analysis of Twins Who Are Discordant for Congenital Cataract
... by mutation screening of 11 candidate genes (CRYGC, CRYGD, CRYAA, CRYAB, CRYBA1, CRYBB1, CRYBB2, MIP, HSF4, GJA3, and GJA8), exome analysis followed by Sanger sequencing of 10 additional candidate genes ...
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Age and Geographical Distribution in Families with BRCA1/BRCA2 Mutations in the Slovak Republic
... with mutation rates found in other European high-risk populations ...51 mutation carriers from 91 available family members were ...from mutation screening of women with familial or early onset ...
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Molecular classification of tissue from a transformed non-Hogkin’s lymphoma case with unexpected long-time remission
... analysis, mutation screening and copy number variations of the primary and relapsed tumor, identified a pattern of branched lymphoma evolution, most likely diverging from an in situ follicular ...
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An integrated molecular cytogenetic, genetic and pathological approach to facilitate the understanding of the biology of invasive ductal breast carcinoma
... Combined data from 50 grade I invasive ductal breast carcinomas analysed for loss of E-cadherin by immunohistochemistry, CGH, LOH and mutation screening. Notes:[r] ...
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Mutation analysis and copy number alterations of <em>KIF23</em> in non-small-cell lung cancer exhibiting <em>KIF23</em> over-expression
... a mutation in the KIF23 gene causing a rare hereditary form of dyserythropoietic anemia (CDA III) with predisposition to blood ...therefore, mutation screening of the KIF23 in 15 non-small-cell lung ...
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The Novel CFTR Mutation A457P in a Male with a Delayed Diagnosis of Cystic Fibrosis
... F508del mutation, and heterozygotes usually have a second allele that is identified on appropriate mutation panels ...F508del mutation and an unidentified allele on standard genetic testing using a ...
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Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q linked periodic catatonia
... missense mutation cosegregating in a large pedigree, but further analyses have excluded sequence var- iants of MLC1 as causing chromosome 22q-linked catato- ...systematic mutation screening in 140 ...
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Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2mutations in isolated AMRF features
... The mutation screening of unrelated patients with isolated AMRF features affected by either epilepsy (n = 103, progressive myoclonus epilepsy or generalized epilepsy), demyelinating polyneuropathy (n = ...
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