(Q35119757)

6 August 2017

title

A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome (English)

1 reference

6 August 2017

M Nilbert

8

0 references

John Potter

object named as

J Potter

10

0 references

Annika Lindblom

11

object named as

A Lindblom

1 reference

6 August 2017

Albert de la Chapelle

12

object named as

A de la Chapelle

1 reference

6 August 2017

M Clendenning

1

1 reference

6 August 2017

L Senter

2

1 reference

6 August 2017

H Hampel

3

1 reference

6 August 2017

K Lagerstedt Robinson

4

1 reference

6 August 2017

S Sun

5

1 reference

6 August 2017

D Buchanan

6

1 reference

6 August 2017

M D Walsh

7

1 reference

6 August 2017

J Green

9

1 reference

6 August 2017

language of work or name

English

0 references

publication date

4 January 2008

1 reference

Journal of Medical Genetics

6 August 2017

published in

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6 August 2017

volume

45

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6 August 2017

issue

6

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6 August 2017

page(s)

340-345

1 reference

LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago.

6 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4339871

Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4339871

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4339871

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4339871

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4339871

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4339871

A high-resolution recombination map of the human genome

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4339871

Deficient DNA mismatch repair: a common etiologic factor for colon cancer

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4339871

9 July 2018

Two hits revisited again

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4339871

Conversion of diploidy to haploidy

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4339871

Population growth of human Y chromosomes: a study of Y chromosome microsatellites

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4339871

Genomic organization of the human PMS2 gene family.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4339871

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4339871

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4339871

PMS2 mutations in childhood cancer

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4339871

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4339871

Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4339871

Estimating the age of rare disease mutations: the example of Triple-A syndrome.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4339871

Family history of colorectal cancer in a Sweden county

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4339871

DMLE+: Bayesian linkage disequilibrium gene mapping.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4339871

Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4339871

DNA methylation patterns in hereditary human cancers mimic sporadic tumorigenesis

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4339871

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4339871

Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4339871

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

16 November 2018

1 reference

12 December 2020

The role of hPMS1 and hPMS2 in predisposing to colorectal cancer

1 reference

12 December 2020

Isolated loss of PMS2 expression in colorectal cancers: frequency, patient age, and familial aggregation

1 reference

12 December 2020

Hereditary nonpolyposis colorectal cancer (lynch syndromes I and II). II. Biomarker studies

1 reference

12 December 2020

Hereditary colorectal cancer

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2007.056150

1 reference

6 August 2017

1 reference

6 August 2017

1 reference