(Q24293661)

GOA release 2020-03-11

DNA mismatch repair

1 reference

GOA release 2020-03-11

1 reference

1 reference

2

0 references

Joan Brunet

9

0 references

Ignacio Blanco

15

0 references

Jesús Del Valle

object named as

Jesús Del Valle

4

0 references

author name string

Ester Borràs

1

0 references

Juan Cadiñanos

3

0 references

Angela Brieger

5

0 references

Inga Hinrichsen

6

0 references

Ruben Cabanillas

7

0 references

Matilde Navarro

8

0 references

Xavier Sanjuan

10

0 references

Eva Musulen

11

0 references

Helen van der Klift

12

0 references

Conxi Lázaro

13

0 references

Guido Plotz

14

0 references

Gabriel Capellá

Journal of Medical Genetics

16

0 references

language of work or name

English

0 references

publication date

August 2013

0 references

published in

0 references

volume

50

0 references

issue

8

0 references

page(s)

552-63

0 references

cites work

Review article: The Lynch syndrome (hereditary nonpolyposis colorectal cancer).

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

PMS2 involvement in patients suspected of Lynch syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Long-range PCR facilitates the identification of PMS2-specific mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Apoptotic function of human PMS2 compromised by the nonsynonymous single-nucleotide polymorphic variant R20Q

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Contribution of human mlh1 and pms2 ATPase activities to DNA mismatch repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Common variants in mismatch repair genes associated with increased risk of sperm DNA damage and male infertility

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

The E705K mutation in hPMS2 exerts recessive, not dominant, effects on mismatch repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Comprehensive functional assessment of MLH1 variants of unknown significance

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Avoidance of pseudogene interference in the detection of 3' deletions in PMS2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Improved splice site detection in Genie

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

SplicePort--an interactive splice-site analysis tool

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

SpliceDB: database of canonical and non-canonical mammalian splice sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

ESEfinder: A web resource to identify exonic splicing enhancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Predictive identification of exonic splicing enhancers in human genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Exon inclusion is dependent on predictable exonic splicing enhancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Accounting for human polymorphisms predicted to affect protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

WebLogo: A Sequence Logo Generator

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

A CRM1-dependent nuclear export pathway is involved in the regulation of MutLα subcellular localization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Prediction and assessment of splicing alterations: implications for clinical testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Recurrent and founder mutations in the PMS2 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Molecular characterization of the spectrum of genomic deletions in the mismatch repair genesMSH2,MLH1,MSH6, andPMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC)

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

Polymorphisms in Genes of Nucleotide and Base Excision Repair: Risk and Prognosis of Colorectal Cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

7 January 2021

Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of Lynch syndrome

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

7 January 2021

Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

7 January 2021

Integrated analysis of unclassified variants in mismatch repair genes

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

7 January 2021

Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2012-101511

7 January 2021