UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families (Q36890113)

16 August 2017

UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families (English)

1 reference

Stéphanie Baert-Desurmont

16 August 2017

1 reference

9

Sylviane Olschwang

0 references

4

object named as

Stéphanie Baert-Desurmont

0 references

Marie-Pierre Buisine

5

object named as

Marie-Pierre Buisine

0 references

Christophe Beroud

object named as

Christophe Béroud

8

0 references

author name string

Philippe Grandval

1

1 reference

16 August 2017

Aurélie J Fabre

2

1 reference

16 August 2017

Pascaline Gaildrat

3

1 reference

16 August 2017

Stéphanie Baert-Desurmont

4

1 reference

16 August 2017

Anthony Ferrari

6

1 reference

16 August 2017

Qing Wang

7

1 reference

16 August 2017

31 May 2013

1 reference

16 August 2017

1 reference

16 August 2017

2013

1 reference

16 August 2017

bat036

1 reference

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

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668602

Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668602

Age-Dependent Cancer Risk Is Not Different in between MSH2 and MLH1 Mutation Carriers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668602

Risk assessment, genetic testing, and management of Lynch syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668602

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668602

Recommendations for locus-specific databases and their curation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668602

UMD (Universal mutation database): a generic software to build and analyze locus-specific databases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668602

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668602

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668602

UMD (Universal Mutation Database): 2005 update

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668602

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668602

A database to support the interpretation of human mismatch repair gene variants

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668602

Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668602

[Identification and management of HNPCC syndrome (hereditary non polyposis colon cancer), hereditary predisposition to colorectal and endometrial adenocarcinomas]

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3668602

The educational role of external quality assessment in genetic testing: a 7-year experience of the European Molecular Genetics Quality Network (EMQN) in Lynch syndrome

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23729658

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Classification of mismatch repair gene missense variants with PON-MMR

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23729658

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/DATABASE/BAT036

1 reference

release_44jgn5ofhfc25fokuvlzttcppq

16 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/44jgn5ofhfc25fokuvlzttcppq

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

16 August 2017

PubMed publication ID

23729658

1 reference