(Q46602231)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18470917%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

title

Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18470917%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18470917%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Saara Ollila

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18470917%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

author name string

Denis Dermadi Bebek

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18470917%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Marc Greenblatt

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18470917%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

language of work or name

English

0 references

publication date

1 August 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18470917%20AND%20SRC:MED&resulttype=core&format=json

International Journal of Cancer

7 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18470917%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

volume

123

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18470917%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18470917%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

page(s)

720-724

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18470917%20AND%20SRC:MED&resulttype=core&format=json

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

7 January 2020

cites work

1 reference

Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6

21 January 2018

1 reference

The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer

21 January 2018

1 reference

Detection of hotspot mutations and polymorphisms using an enhanced PCR-RFLP approach.

21 January 2018

1 reference

Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutator phenotypes of common polymorphisms and missense mutations in MSH2.

21 January 2018

1 reference

CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer

21 January 2018

1 reference

Identification of predictive factors for the occurrence of predisposing MLH1 and MSH2 germline mutations among Sardinian patients with colorectal carcinoma.

21 January 2018

1 reference

Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma

21 January 2018

1 reference

A human 200-kDa protein binds selectively to DNA fragments containing G.T mismatches

21 January 2018

1 reference

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

21 January 2018

1 reference

MSH6 missense mutations are often associated with no or low cancer susceptibility

21 January 2018

1 reference

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

21 January 2018

1 reference

The human mismatch recognition complex hMSH2-hMSH6 functions as a novel molecular switch

21 January 2018

1 reference

SIFT: Predicting amino acid changes that affect protein function

21 January 2018

1 reference

Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes

21 January 2018

1 reference

Nucleotide-promoted release of hMutSalpha from heteroduplex DNA is consistent with an ATP-dependent translocation mechanism

21 January 2018

1 reference

Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).

21 January 2018

1 reference

The multifaceted mismatch-repair system

21 January 2018

1 reference

DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer

21 January 2018

1 reference

MSH2 sequence variations and inherited colorectal cancer susceptibility

21 January 2018

1 reference

Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach

21 January 2018

1 reference

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

21 January 2018

1 reference