(Q34565224)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20717847%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

title

An intronic mutation in MLH1 associated with familial colon and breast cancer (English)

1 reference

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10 February 2020

3

1 reference

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10 February 2020

Alessandra Viel

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20717847%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Cristian Loretelli

9

1 reference

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10 February 2020

Diana Baralle

12

1 reference

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10 February 2020

author name string

F Bianchi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20717847%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

M Raponi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20717847%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

I Bearzi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20717847%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

E Galizia

6

1 reference

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10 February 2020

R Bracci

7

1 reference

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10 February 2020

L Belvederesi

8

1 reference

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10 February 2020

C Brugiati

10

1 reference

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10 February 2020

F Corradini

11

1 reference

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10 February 2020

R Cellerino

13

1 reference

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10 February 2020

publication date

1 March 2011

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10 February 2020

1 reference

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10 February 2020

volume

10

1 reference

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10 February 2020

issue

1

1 reference

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10 February 2020

page(s)

27-35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20717847%20AND%20SRC:MED&resulttype=core&format=json

Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry

10 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036834

CAT25 is a mononucleotide marker to identify HNPCC patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036834

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036834

ASD: a bioinformatics resource on alternative splicing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036834

Characterization and prediction of alternative splice sites

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036834

Hereditary colorectal cancer syndromes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036834

Hereditary colorectal cancer-part II.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036834

Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036834

Identification of putative new splicing targets for ETR-3 using sequences identified by systematic evolution of ligands by exponential enrichment

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036834

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036834

Genetic predisposition to colorectal cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036834

ESEfinder: A web resource to identify exonic splicing enhancers

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036834

Role of DNA mismatch repair defects in the pathogenesis of human cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036834

Predictive identification of exonic splicing enhancers in human genes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036834

A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036834

Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036834

Improved Splice Site Detection in Genie

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036834

Analysis of donor splice sites in different eukaryotic organisms

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036834

RNA-based mutation screening in hereditary nonpolyposis colorectal cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036834

Prediction of human mRNA donor and acceptor sites from the DNA sequence

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036834

SpliceAid: a database of experimental RNA target motifs bound by splicing proteins in humans.

7 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-010-9371-4

Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-010-9371-4

Mismatch repair defective breast cancer in the hereditary nonpolyposis colorectal cancer syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-010-9371-4

Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-010-9371-4

Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-010-9371-4

Alternative splicing of MLH1 messenger RNA in human normal cells.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036834

Dynamic antagonism between ETR-3 and PTB regulates cell type-specific alternative splicing

27 October 2018

1 reference

12 December 2020

Hereditary colorectal cancer

1 reference

12 December 2020

A truncated hMSH2 transcript occurs as a common variant in the population: implications for genetic diagnosis

1 reference

12 December 2020

Immunohistochemistry for hMLH1 and hMSH2: a practical test for DNA mismatch repair-deficient tumors

1 reference

12 December 2020

Breast cancer immunohistochemistry can be useful in triage of some HNPCC families

1 reference

12 December 2020

A missense germline mutation in exon 7 of the MSH2 gene in a HNPCC family from center-Italy

1 reference

12 December 2020

Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression

1 reference

12 December 2020

10.1007/S10689-010-9371-4

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20717847%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

10 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20717847%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

PubMed publication ID

20717847

1 reference