Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.
about
High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndromeDosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplificationDetection of large deletions in the LDL receptor gene with quantitative PCR methodsMethylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequencesHereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genesPartial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers.Some aspects of molecular diagnostics in Lynch syndrome.A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome.Application of molecular diagnostics for the detection of Lynch syndrome.Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.Copy number variation analysis by ligation-dependent PCR based on magnetic nanoparticles and chemiluminescence.BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing.The germline MLH1 K618A variant and susceptibility to Lynch syndrome-associated tumorsJuvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22-23Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer.Hereditary non-polyposis colon cancerNext generation sequencing in clinical medicine: Challenges and lessons for pathology and biomedical informatics.A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin.hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patientsGermline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohortsGenetic diagnosis strategy of hereditary non-polyposis colorectal cancer.Mismatch repair genes in Lynch syndrome: a review.Mismatch repair deficiency testing in clinical practice.Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair.Confirmation of single exon deletions in MLH1 and MSH2 using quantitative polymerase chain reaction.Deletion Mutations in an Australian Series of HNPCC Patients.Chromosome 9p21 gene copy number and prognostic significance of p16 in ESFT.Expression profiling via novel multiplex assay allows rapid assessment of gene regulation in defined signalling pathways.Frequency of KLK3 gene deletions in the general population.Design and validation of an oligonucleotide microarray for the detection of genomic rearrangements associated with common hereditary cancer syndromes.PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French studyAnalysis of hMLH1 and hMSH2 gene dosage alterations in hereditary nonpolyposis colorectal cancer patients by novel methods.Inherited colorectal cancer syndromes.Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.An α-E-catenin (CTNNA1) mutation in hereditary diffuse gastric cancer.A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns.Simultaneous detection of DNA from 10 food allergens by ligation-dependent probe amplification.Uncovering pseudotemporal trajectories with covariates from single cell and bulk expression data.BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genesStability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion
P2860
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P2860
Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
2002年论文
@zh
2002年论文
@zh-cn
name
Genomic deletions of MSH2 and ...... l mutation detection approach.
@ast
Genomic deletions of MSH2 and ...... l mutation detection approach.
@en
type
label
Genomic deletions of MSH2 and ...... l mutation detection approach.
@ast
Genomic deletions of MSH2 and ...... l mutation detection approach.
@en
prefLabel
Genomic deletions of MSH2 and ...... l mutation detection approach.
@ast
Genomic deletions of MSH2 and ...... l mutation detection approach.
@en
P2093
P2860
P356
P1476
Genomic deletions of MSH2 and ...... l mutation detection approach.
@en
P2093
C J Dommering
C J McElgunn
F B L Hogervorst
G A Meijer
J J P Gille
J P Schouten
J Th Wijnen
P2860
P2888
P304
P356
10.1038/SJ.BJC.6600565
P407
P577
2002-10-01T00:00:00Z
P5875
P6179
1009628946