(Q27024662)

19

0 references

Albert de la Chapelle

14

object named as

Albert de la Chapelle

0 references

Douglas Riegert-Johnson

3

object named as

Douglas Riegert-Johnson

1 reference

13

Jeffrey N. Weitzel

1 reference

24

Loïc Le Marchand

1 reference

22

Polly A. Newcomb

1 reference

Aung Ko Win

7

1 reference

ORCID Public Data File 2021

Noralane Lindor

30

object named as

Noralane M. Lindor

1 reference

28

Karen H. Lu

1 reference

10

Zsofia K. Stadler

1 reference

11

Finlay A. Macrae

1 reference

author name string

McKinsey L. Goodenberger

1

1 reference

Brittany C. Thomas

2

1 reference

C. Richard Boland

4

1 reference

Sharon E. Plon

5

1 reference

Mark Clendenning

6

1 reference

Leigha Senter

8

1 reference

Steven M. Lipkin

9

1 reference

Henry T. Lynch

12

1 reference

Sapna Syngal

15

1 reference

Patrick Lynch

16

1 reference

Susan Parry

17

1 reference

Mark A. Jenkins

18

1 reference

Spring Holter

20

1 reference

Melyssa Aronson

21

1 reference

Terrilea Burnett

23

1 reference

Pavel Pichurin

25

1 reference

Heather Hampel

26

1 reference

Jonathan P. Terdiman

27

1 reference

Stephen Thibodeau

29

1 reference

language of work or name

1 reference

January 2016

1 reference

1 reference

18

1 reference

issue

1

1 reference

page(s)

13-9

1 reference

EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

Mutations of two PMS homologues in hereditary nonpolyposis colon cancer

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

Mutation of a mutL homolog in hereditary colon cancer

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the U.S. Multi-Society Task Force on Colorectal Cancer

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

The history of Lynch syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

Cancer risks for MLH1 and MSH2 mutation carriers

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

Risks of Lynch syndrome cancers for MSH6 mutation carriers

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

Familial colorectal cancer risk: ESMO clinical recommendations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

Constitutive deficiency in DNA mismatch repair

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

Phenotype associated with recessively inherited mutations in DNA mismatch repair (MMR) genes.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

Café-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

The molecular basis of Turcot's syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

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

31 May 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.27

Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.27

Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.27

Risks of less common cancers in proven mutation carriers with lynch syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.27

Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

PMS2 involvement in patients suspected of Lynch syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4834863

The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene

28 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/25856668

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25856668

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25856668