(Q37711787)

22 August 2017

The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype (English)

1 reference

22 August 2017

7

1 reference

22 August 2017

Arjen R Mensenkamp

4

0 references

Ingrid P Vogelaar

object named as

Ingrid P Vogelaar

2

0 references

James M Ford

9

object named as

James M Ford

1 reference

22 August 2017

Chau-To Kwok

1

1 reference

22 August 2017

Wendy A van Zelst-Stams

3

1 reference

22 August 2017

Marjolijn J Ligtenberg

5

1 reference

22 August 2017

Robert W Rapkins

6

1 reference

22 August 2017

Nicolette Chun

8

1 reference

22 August 2017

Uri Ladabaum

10

1 reference

22 August 2017

Wendy C McKinnon

11

1 reference

22 August 2017

Marc S Greenblatt

12

1 reference

22 August 2017

Megan P Hitchins

13

1 reference

22 August 2017

language of work or name

1 reference

2 October 2013

1 reference

European Journal of Human Genetics

22 August 2017

1 reference

22 August 2017

22

1 reference

22 August 2017

5

1 reference

22 August 2017

617-624

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2013.200

22 August 2017

0 references

cites work

An integrated map of genetic variation from 1,092 human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992563

Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992563

MLH1 methylation screening is effective in identifying epimutation carriers

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992563

De novo constitutional MLH1 epimutations confer early-onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in one

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992563

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992563

BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992563

Haploview: analysis and visualization of LD and haplotype maps

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992563

MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps

23 August 2017

1 reference

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

23 August 2017

1 reference

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Mismatch repair: mechanisms and relationship to cancer susceptibility

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992563

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992563

Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992563

Identification of new cases of early-onset colorectal cancer with an MLH1 epimutation in an ethnically diverse South African cohort.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992563

Detection of allelic imbalance in MLH1 expression by pyrosequencing serves as a tool for the identification of germline defects in Lynch syndrome

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992563

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1.

1 September 2018

1 reference

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Germline hMLH1 promoter mutation in a Newfoundland HNPCC kindred

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992563

A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the MLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3992563

MLH1 Germline Epimutations as a Factor in Hereditary Nonpolyposis Colorectal Cancer

1 September 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.200

Erasure of MLH1 methylation in spermatozoa—implications for epigenetic inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.200

Inheritance of a Cancer-AssociatedMLH1Germ-Line Epimutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.200

Dominantly Inherited Constitutional Epigenetic Silencing of MLH1 in a Cancer-Affected Family Is Linked to a Single Nucleotide Variant within the 5′UTR

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.200

The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24084575

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24084575

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24084575

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2013.200

1 reference

22 August 2017

1 reference

22 August 2017

PubMed publication ID

24084575

1 reference