(Q45134028)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177550%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome (English)

1 reference

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20 January 2020

1

1 reference

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20 January 2020

5

Edith Olah

1 reference

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20 January 2020

author name string

Janos Papp

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177550%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Zoltan Szentirmay

series ordinal

3

1 reference

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20 January 2020

Szabolcs Otto

series ordinal

4

1 reference

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20 January 2020

publication date

1 February 2009

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20 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177550%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

volume

30

1 reference

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20 January 2020

issue

2

1 reference

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20 January 2020

page(s)

197-203

1 reference

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Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: implications for genetic testing

20 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20942

Pedigree and genetic analysis of a novel mutation carrier patient suffering from hereditary nonpolyposis colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20942

Characterization of hMLH1 and hMSH2 gene dosage alterations in Lynch syndrome patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20942

7 January 2021

MatInspector and beyond: promoter analysis based on transcription factor binding sites

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20942

7 January 2021

Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20942

7 January 2021

The 5' region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20942

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20942

7 January 2021

Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20942

7 January 2021

Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20942

7 January 2021

Alpha-thalassaemia caused by a polyadenylation signal mutation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20942

7 January 2021

Promoter analysis of the human mismatch repair gene hMSH2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20942

7 January 2021

Long-range control of gene expression: emerging mechanisms and disruption in disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20942

7 January 2021

Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20942

7 January 2021

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20942

7 January 2021

Hereditary colorectal cancer-part II.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20942

7 January 2021

A breast/ovarian cancer patient with germline mutations in both BRCA1 and BRCA2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20942

7 January 2021

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20942

7 January 2021

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20942

7 January 2021

Transcriptional interference--a crash course

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20942

7 January 2021

Germline epimutation of MLH1 in individuals with multiple cancers.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20942

7 January 2021

Epithelial cell adhesion molecule: more than a carcinoma marker and adhesion molecule

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20942

7 January 2021

Molecular characterization of the spectrum of genomic deletions in the mismatch repair genesMSH2,MLH1,MSH6, andPMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20942

7 January 2021

Prevalence of founder BRCA1 and BRCA2 mutations among breast and ovarian cancer patients in Hungary

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20942

7 January 2021

Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20942

7 January 2021

Identifiers

DOI

10.1002/HUMU.20942

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19177550%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference