(Q40275526)

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

In more languages

default values for all languages

No label defined

No description defined

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16724012%20AND%20SRC:MED&resulttype=core&format=json

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)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16724012%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

colorectal cancer

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Cristian Loretelli

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16724012%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Alessandra Viel

9

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16724012%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

author name string

Laura Belvederesi

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16724012%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Francesca Bianchi

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16724012%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Daniela Gagliardini

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16724012%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Eva Galizia

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16724012%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Raffaella Bracci

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16724012%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Saverio Rosati

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16724012%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Italo Bearzi

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16724012%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Riccardo Cellerino

10

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16724012%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Emilio Porfiri

11

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16724012%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

publication date

17 May 2006

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16724012%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

European Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16724012%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

14

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16724012%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16724012%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

853-859

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16724012%20AND%20SRC:MED&resulttype=core&format=json

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

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16724012%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16724012%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q40275526&oldid=2203560846"