(Q34100062)

English

Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: implications for genetic testing

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: implications for genetic testing (English)

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

colorectal cancer

1 reference

based on heuristic

inferred from title

colorectal carcinoma

1 reference

based on heuristic

inferred from title

3

object named as

Edith Olah

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

author name string

Janos Papp

1

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Marietta E Kovacs

2

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

language of work or name

0 references

publication date

1 May 2007

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

World Journal of Gastroenterology

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

13

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

19

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

2727-2732

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

hMRE11 deficiency leads to microsatellite instability and defective DNA mismatch repair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147123

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147123

5 July 2018

Genetic predisposition to colorectal cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147123

5 July 2018

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147123

5 July 2018

Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147123

5 July 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147123

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147123

5 July 2018

Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha mismatch repair factor affect its ATPase activity, but not its ability to interact with hMutSalpha

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147123

5 July 2018

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147123

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147123

5 July 2018

Analysis of BRCA1 and BRCA2 mutations in Hungarian families with breast or breast-ovarian cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147123

5 July 2018

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=4147123

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147123

5 July 2018

Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147123

5 July 2018

Founding mutations and Alu-mediated recombination in hereditary colon cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147123

5 July 2018

Automated splicing mutation analysis by information theory.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147123

28 October 2018

Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147123

28 October 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147123

28 October 2018

Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147123

28 October 2018

Nomenclature for the description of human sequence variations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147123

28 October 2018

Mismatch recognition and DNA-dependent stimulation of the ATPase activity of hMutSalpha is abolished by a single mutation in the hMSH6 subunit.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147123

28 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147123

28 October 2018

Photocross-linking of the NH2-terminal region of Taq MutS protein to the major groove of a heteroduplex DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147123

28 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147123

28 October 2018

Missense mutations in hMLH1 associated with colorectal cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/17569143

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequence alterations can mask each other's presence during screening with SSCP or heteroduplex analysis: BRCA genes as examples

1 reference

https://pubmed.ncbi.nlm.nih.gov/17569143

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary colorectal cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/17569143

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)

1 reference

https://pubmed.ncbi.nlm.nih.gov/17569143

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic testing is important in families with a history suggestive of hereditary non-polyposis colorectal cancer even if the Amsterdam criteria are not fulfilled

1 reference

https://pubmed.ncbi.nlm.nih.gov/17569143

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: Meeting Highlights and Bethesda Guidelines

1 reference

https://pubmed.ncbi.nlm.nih.gov/17569143

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The 5' region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/17569143

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Testing guidelines for hereditary non-polyposis colorectal cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/17569143

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.3748/WJG.V13.I19.2727

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

ResearchGate publication ID

0 references

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