(Q35836701)

10 August 2017

Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6 (English)

1 reference

10 August 2017

1 reference

Madhuri Hegde

1

1 reference

10 August 2017

Maria Blazo

2

1 reference

10 August 2017

Belinda Chong

3

1 reference

10 August 2017

Tom Prior

4

1 reference

10 August 2017

Carolyn Richards

5

1 reference

10 August 2017

language of work or name

1 reference

1 October 2005

1 reference

The Journal of Molecular Diagnostics

10 August 2017

1 reference

10 August 2017

7

1 reference

10 August 2017

4

1 reference

10 August 2017

525-534

1 reference

Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancers.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

Tech.sight. Genetic testing--present and future

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

hMLH1, hMSH2 and hMSH6 mutations in hereditary non-polyposis colorectal cancer families from southern Sweden

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

Molecular diagnostics of cancer predisposition: hereditary non-polyposis colorectal carcinoma and mismatch repair defects

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

Hereditary colorectal cancer in the general population: from cancer registration to molecular diagnosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

Public health perspectives on testing for colorectal cancer susceptibility genes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

Molecular basis of HNPCC: mutations of MMR genes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

DNA mismatch repair gene mutations in human cancer

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

Mutations predisposing to hereditary nonpolyposis colorectal cancer

11 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

11 July 2018

https://api.crossref.org/works/10.1016%2FS1525-1578%2810%2960584-3

7 January 2021

inferred from DOI database lookup

Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

Familial risk and colorectal cancer

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

Hereditary nonpolyposis colorectal cancer: review of clinical, molecular genetics, and counseling aspects

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

Mutation of a mutL homolog in hereditary colon cancer

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

Genes involved in hereditary nonpolyposis colorectal carcinoma

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

DGGE screening of mutations in mismatch repair genes (hMSH2 and hMLH1) in 34 Swedish families with colorectal cancer.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

Prevalence of germline mutations ofMLH1 andMSH2 in hereditary nonpolyposis colorectal cancer families from Spain

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach

22 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1888496

Blind Analysis of Denaturing High-Performance Liquid Chromatography as a Tool for Mutation Detection

6 December 2018

1 reference

12 December 2020

Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis

1 reference

12 December 2020

Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders

1 reference

12 December 2020

A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC

1 reference

12 December 2020

A highly sensitive, fast, and economical technique for mutation analysis in hereditary breast and ovarian cancers

1 reference

12 December 2020

Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations

1 reference

12 December 2020

hMLH1 mutations in hereditary nonpolyposis colorectal cancer kindreds. Mutations in brief no. 182. Online

1 reference

12 December 2020

Germline BRCA1 and HMLH1 mutations in a family with male and female breast carcinoma

1 reference

12 December 2020

Microsatellite instability and hMLH1/hMSH2 expression in young endometrial carcinoma patients: associations with family history and histopathology

1 reference

12 December 2020

Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2

1 reference

12 December 2020

Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments

1 reference

12 December 2020

Novel germline mutation (300-305delAGTTGA) in the human MSH2 gene in hereditary non-polyposis colorectal cancer (HNPCC)

1 reference

12 December 2020

Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis

1 reference

12 December 2020

Identification of specific BRCA1 and BRCA2 variants by DHPLC

1 reference

12 December 2020

DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2

1 reference

12 December 2020

Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene

1 reference

12 December 2020

A population based cohort study of patients with multiple colon and endometrial cancer: Correlation of microsatellite instability (msi) status, age at diagnosis and cancer risk

1 reference

12 December 2020

Four novelMSH2 andMLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer

1 reference

12 December 2020

Methylation pattern of different regions of theMLH1 promoter and silencing of gene expression in hereditary and sporadic colorectal cancer

1 reference

12 December 2020

Eight novel germlineMLH1andMSH2mutations in hereditary non-polyposis colorectal cancer families from Spain

1 reference

12 December 2020

A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1

1 reference

12 December 2020

Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatography

1 reference

12 December 2020

Mutation searching in colorectal cancer studies: experience with a denaturing high-pressure liquid chromatography system for exon-by-exon scanning of tumour suppressor genes

1 reference

12 December 2020

Comparative study of capillary zone electrophoresis and high-performance liquid chromatography in the analysis of oligonucleotides and DNA

1 reference

12 December 2020

MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer

1 reference

12 December 2020

Diagnosis of hereditary non-polyposis colorectal cancer

1 reference

12 December 2020

10.1016/S1525-1578(10)60584-3

Identifiers

DOI

1 reference

10 August 2017

1 reference

10 August 2017

1 reference