Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features. (Q40275526)

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scientific article published on 17 May 2006

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English	Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features.	scientific article published on 17 May 2006

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28 January 2020

Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features (English)

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28 January 2020

colorectal cancer

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Cristian Loretelli

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28 January 2020

Alessandra Viel

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28 January 2020

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Laura Belvederesi

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28 January 2020

Francesca Bianchi

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28 January 2020

Daniela Gagliardini

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28 January 2020

Eva Galizia

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28 January 2020

Raffaella Bracci

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28 January 2020

Saverio Rosati

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28 January 2020

Italo Bearzi

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28 January 2020

Riccardo Cellerino

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28 January 2020

Emilio Porfiri

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28 January 2020

publication date

17 May 2006

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28 January 2020

European Journal of Human Genetics

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28 January 2020

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28 January 2020

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28 January 2020

853-859

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28 January 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201628

21 January 2018

Role of DNA mismatch repair defects in the pathogenesis of human cancer

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201628

21 January 2018

Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201628

21 January 2018

Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologs

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201628

21 January 2018

Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201628

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201628

21 January 2018

The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201628

21 January 2018

Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201628

21 January 2018

Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201628

21 January 2018

Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201628

21 January 2018

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201628

21 January 2018

Steady-state regulation of the human DNA mismatch repair system.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201628

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201628

21 January 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://api.crossref.org/works/10.1038%2FSJ.EJHG.5201628

21 January 2018

Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201628

21 January 2018

The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201628

21 January 2018

Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201628

21 January 2018

Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201628

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201628

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201628

21 January 2018

Hereditary colorectal cancer

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201628

7 January 2021

based on heuristic

inferred from DOI database lookup

Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201628

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201628

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201628

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5201628

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Europe PubMed Central

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28 January 2020

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Europe PubMed Central

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28 January 2020

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