(Q35435822)

8 August 2017

title

Recurrent germline mutation in MSH2 arises frequently de novo (English)

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8 August 2017

6

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8 August 2017

9

P Radice

1 reference

8 August 2017

D C Desai

1

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8 August 2017

J C Lockman

2

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8 August 2017

R B Chadwick

3

1 reference

8 August 2017

X Gao

4

1 reference

8 August 2017

A Percesepe

5

1 reference

8 August 2017

M Miyaki

7

1 reference

8 August 2017

S T Yuen

8

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8 August 2017

E R Maher

10

1 reference

8 August 2017

F A Wright

11

1 reference

8 August 2017

A de La Chapelle

12

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8 August 2017

language of work or name

English

0 references

publication date

1 September 2000

1 reference

Journal of Medical Genetics

8 August 2017

published in

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8 August 2017

volume

37

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8 August 2017

issue

9

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8 August 2017

page(s)

646-652

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Conversion of diploidy to haploidy

8 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=1734701

Genetic susceptibility to non-polyposis colorectal cancer

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734701

Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734701

Polymorphic variation at the BAT-25 and BAT-26 loci in individuals of African origin. Implications for microsatellite instability testing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734701

BAT-26 and BAT-40 instability in colorectal adenomas and carcinomas and germline polymorphisms

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734701

Testing tumors for microsatellite instability

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734701

A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734701

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734701

Linkage disequilibrium mapping in isolated populations: the example of Finland revisited

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734701

Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734701

Parametric and nonparametric linkage analysis: a unified multipoint approach

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734701

Genetic mapping of a locus predisposing to human colorectal cancer

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734701

Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734701

hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734701

The origin of the major cystic fibrosis mutation (delta F508) in European populations.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734701

A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734701

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734701

Antenatal diagnosis of sickle-cell anaemia by D.N.A. analysis of amniotic-fluid cells

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734701

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734701

Predominant germ-line mutation of the hMSH2 gene in Japanese hereditary non-polyposis colorectal cancer kindreds.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734701

Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734701

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734701

Haplotype relative risks: an easy reliable way to construct a proper control sample for risk calculations

15 November 2018

1 reference

12 December 2020

A frequent hMSH2 mutation in hereditary non-polyposis colon cancer syndrome

1 reference

12 December 2020

Germ line mutations of hMSH2 and hMLH1 genes in Japanese families with hereditary nonpolyposis colorectal cancer (HNPCC): usefulness of DNA analysis for screening and diagnosis of HNPCC patients

1 reference

12 December 2020

Analysis of mismatch repair genes in hereditary non–polyposis colorectal cancer patients

1 reference

12 December 2020

Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer

1 reference

12 December 2020

Heterozygote and mutation detection by direct automated fluorescent DNA sequencing using a mutant Taq DNA polymerase

1 reference

12 December 2020

Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer

1 reference

12 December 2020

Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes

1 reference

12 December 2020

Allelic profiles of mononucleotide repeat microsatellites in control individuals and in colorectal tumors with and without replication errors

1 reference

12 December 2020

MSH2 genomic deletions are a frequent cause of HNPCC

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.37.9.646

1 reference

release_xgj4g2irtza7tjl5ndcxpeb24m

8 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/xgj4g2irtza7tjl5ndcxpeb24m

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1734701

1 reference

8 August 2017

1 reference