(Q34325613)

1 August 2017

title

Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2. (English)

1 reference

1 August 2017

1 reference

Nicoline Hoogerbrugge

2

object named as

Nicoline Hoogerbrugge

1 reference

1 August 2017

Marjolijn J L Ligtenberg

6

object named as

Marjolijn J L Ligtenberg

1 reference

1 August 2017

5

Han G Brunner

1 reference

1 August 2017

Carolien M Kets

1

1 reference

1 August 2017

Joannes H J M van Krieken

3

1 reference

1 August 2017

Monique Goossens

4

1 reference

1 August 2017

publication date

10 September 2008

1 reference

European Journal of Human Genetics

1 August 2017

published in

1 reference

1 August 2017

volume

17

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1 August 2017

issue

2

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1 August 2017

page(s)

159-164

1 reference

Constitutive deficiency in DNA mismatch repair

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986059

Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986059

Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986059

Quasimonomorphic mononucleotide repeats for high-level microsatellite instability analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986059

Loss of DNA mismatch repair function and cancer predisposition in the mouse: animal models for human hereditary nonpolyposis colorectal cancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986059

Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986059

Café-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986059

Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986059

Early onset brain tumor and lymphoma in MSH2-deficient children

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986059

The crystal structure of DNA mismatch repair protein MutS binding to a G x T mismatch

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986059

Evaluation of enzymatic mutation detectiontrade mark in hereditary nonpolyposis colorectal cancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986059

Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986059

A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986059

Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986059

The molecular basis of Turcot's syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986059

Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986059

Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.153

Constitutive deficiency in DNA mismatch repair: is it time for Lynch III?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.153

Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.153

Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986059

A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986059

Very low incidence of microsatellite instability in rectal cancers from families at risk for HNPCC

28 October 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.153

Hereditary colorectal cancer

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18781192

12 December 2020

inferred from PubMed ID database lookup

Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18781192

12 December 2020

inferred from PubMed ID database lookup

Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18781192

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/EJHG.2008.153

1 reference

release_5napanef5zgj7aaytagixypxba

1 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/5napanef5zgj7aaytagixypxba

24 November 2022

mapped directly with Wikidata item

PMC publication ID

2986059

1 reference

1 August 2017

1 reference