(Q38426073)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566915%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

title

Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population (English)

1 reference

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9 January 2020

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1

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9 January 2020

Henrik Krarup

4

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9 January 2020

Lone Sunde

7

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9 January 2020

Anne-Marie Gerdes

8

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9 January 2020

Inge Bernstein

12

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9 January 2020

6

Finn C Nielsen

1 reference

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9 January 2020

3

Thomas V O Hansen

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9 January 2020

2

Friedrik P Wikman

1 reference

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9 January 2020

Dorthe Gylling Crüger

9

object named as

Dorthe Cruger

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9 January 2020

10

Susanne Timshel

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9 January 2020

13

Henrik Okkels

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9 January 2020

author name string

Torben F Orntoft

5

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9 January 2020

Marie-Louise Bisgaard

11

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9 January 2020

publication date

20 June 2008

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9 January 2020

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9 January 2020

volume

8

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9 January 2020

issue

1

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9 January 2020

page(s)

75-83

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https://scigraph.springernature.com/pub.10.1007/s10689-008-9199-3

9 January 2020

exact match

0 references

cites work

Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10689-008-9199-3

Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein

21 January 2018

1 reference

12 December 2020

Recurrent germline mutation in MSH2 arises frequently de novo

1 reference

12 December 2020

Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

1 reference

12 December 2020

New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.

1 reference

12 December 2020

Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

1 reference

12 December 2020

Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance

1 reference

12 December 2020

A new variant database for mismatch repair genes associated with Lynch syndrome

1 reference

12 December 2020

The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population

1 reference

12 December 2020

Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families

1 reference

12 December 2020

Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability

1 reference

12 December 2020

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

1 reference

12 December 2020

Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays

1 reference

12 December 2020

HNPCC mutations in the human DNA mismatch repair gene hMLH1 influence assembly of hMutLalpha and hMLH1-hEXO1 complexes

1 reference

12 December 2020

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

1 reference

12 December 2020

Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer

1 reference

12 December 2020

Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer: a HuGE review

1 reference

12 December 2020

Mutation of a mutL homolog in hereditary colon cancer

1 reference

12 December 2020

Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16

1 reference

12 December 2020

A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations.

1 reference

12 December 2020

Characterization of hMLH1 and hMSH2 gene dosage alterations in Lynch syndrome patients.

1 reference

12 December 2020

Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation

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

Frequency of hereditary non-polyposis colorectal cancer in Danish colorectal cancer patients

1 reference

12 December 2020

The HNPCC associated MSH2*1906G-->C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population.

1 reference

12 December 2020

Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.

1 reference

12 December 2020

The contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancer

1 reference

12 December 2020

Founding mutations and Alu-mediated recombination in hereditary colon cancer

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.

1 reference

12 December 2020

Frequency of constitutional MSH6 mutations in a consecutive series of families with clinical suspicion of HNPCC

1 reference

12 December 2020

Reduced frequency of extracolonic cancers in hereditary nonpolyposis colorectal cancer families with monoallelic hMLH1 expression

1 reference

12 December 2020

10.1007/S10689-008-9199-3

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18566915%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

9 January 2020

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1 reference