(Q50549930)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19697156%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

title

Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients (English)

1 reference

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5 February 2020

1 reference

Claus Lindbjerg Andersen

12

1 reference

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5 February 2020

Minna Nyström

13

1 reference

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5 February 2020

Lone Sunde

5

1 reference

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5 February 2020

Anne-Marie Gerdes

6

1 reference

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5 February 2020

Inge Bernstein

9

1 reference

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5 February 2020

Rikke H Hagemann-Madsen

11

1 reference

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5 February 2020

10

Thomas V O Hansen

1 reference

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5 February 2020

4

Friedrik P Wikman

1 reference

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5 February 2020

7

Henrik Okkels

1 reference

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5 February 2020

author name string

Lise Lotte Christensen

1

1 reference

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5 February 2020

Reetta Kariola

2

1 reference

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5 February 2020

Mari K Korhonen

3

1 reference

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5 February 2020

Carsten A Brandt

8

1 reference

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5 February 2020

Torben F Ørntoft

14

1 reference

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5 February 2020

publication date

21 August 2009

1 reference

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5 February 2020

1 reference

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5 February 2020

volume

8

1 reference

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5 February 2020

issue

4

1 reference

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5 February 2020

page(s)

489-500

1 reference

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Pedigree and genetic analysis of a novel mutation carrier patient suffering from hereditary nonpolyposis colorectal cancer

5 February 2020

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10689-009-9274-4

The implications of genetics in colorectal cancer

21 January 2018

1 reference

12 December 2020

Hereditary polyposis syndromes and hereditary non-polyposis colorectal cancer

1 reference

12 December 2020

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

1 reference

12 December 2020

Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

1 reference

12 December 2020

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

1 reference

12 December 2020

Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

Human non-synonymous SNPs: server and survey

1 reference

12 December 2020

Compound heterozygosity for twoMSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus

1 reference

12 December 2020

The multifaceted mismatch-repair system

1 reference

12 December 2020

Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

1 reference

12 December 2020

Evaluation of screening strategy for detecting hereditary nonpolyposis colorectal carcinoma

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

Snap: an integrated SNP annotation platform

1 reference

12 December 2020

Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).

1 reference

12 December 2020

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

1 reference

12 December 2020

Site directed mutagenesis of hMLH1 exonic splicing enhancers does not correlate with splicing disruption

1 reference

12 December 2020

Functional Significance and Clinical Phenotype of Nontruncating Mismatch Repair Variants of MLH1

1 reference

12 December 2020

Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.

1 reference

12 December 2020

Germline epimutation of MLH1 in individuals with multiple cancers

1 reference

12 December 2020

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

1 reference

12 December 2020

Transient mismatch repair gene transfection for functional analysis of genetic hMLH1 and hMSH2 variants

1 reference

12 December 2020

Polyposis and early cancer in a patient with low penetrant mutations in MSH6 and APC: hereditary colorectal cancer as a polygenic trait.

1 reference

12 December 2020

1 reference

12 December 2020

Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes

1 reference

12 December 2020

Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor

1 reference

12 December 2020

Hereditary Nonpolyposis Colorectal Cancer: the Syndrome, the Genes, and Historical Perspectives

1 reference

12 December 2020

Hereditary cancer predisposition syndromes

1 reference

12 December 2020

Mismatch repair deficiency associated with overexpression of the MSH3 gene

1 reference

12 December 2020

Missense mutations in hMLH1 associated with colorectal cancer

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

In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

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

Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer

1 reference

12 December 2020

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

1 reference

12 December 2020

Mechanisms of pathogenicity in human MSH2 missense mutants.

1 reference

12 December 2020

Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein

1 reference

12 December 2020

SIFT: Predicting amino acid changes that affect protein function

1 reference

12 December 2020

A large fraction of unclassified variants of the mismatch repair genesMLH1andMSH2is associated with splicing defects

1 reference

12 December 2020

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

1 reference

12 December 2020

Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.

1 reference

12 December 2020

The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population

1 reference

12 December 2020

Assessment of functional effects of unclassified genetic variants

1 reference

12 December 2020

Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome

1 reference

12 December 2020

Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.

1 reference

12 December 2020

1 reference

12 December 2020