(Q36849250)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17568392%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

review article

1 reference

title

Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17568392%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference

1 reference

1

1 reference

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31 December 2019

Hans Vasen

5

1 reference

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31 December 2019

author name string

Elsa Bik

2

1 reference

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31 December 2019

Frederik J Hes

3

1 reference

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31 December 2019

Martijn H Breuning

4

1 reference

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31 December 2019

Egbert Bakker

6

1 reference

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31 December 2019

Carli M J Tops

7

1 reference

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31 December 2019

Marjan M Weiss

8

1 reference

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31 December 2019

publication date

13 June 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17568392%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

31 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17568392%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

volume

15

1 reference

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31 December 2019

issue

10

1 reference

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31 December 2019

page(s)

1034-1042

1 reference

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201871

31 December 2019

exact match

0 references

cites work

Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

Attenuated familial adenomatous polyposis (AFAP). A review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

Identification of FAP locus genes from chromosome 5q21

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

Molecular diagnosis of familial adenomatous polyposis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

Phenotypic expression in familial adenomatous polyposis: partial prediction by mutation analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

Genotype-phenotype correlations in attenuated adenomatous polyposis coli

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

Submicroscopic deletions of the APC gene: a frequent cause of familial adenomatous polyposis that may be overlooked by conventional mutation scanning

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

Different familial adenomatous polyposis phenotypes resulting from deletions of the entire APC exon 15.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

APC haploinsufficiency, but not CTNNB1 or CDH1 gene mutations, accounts for a fraction of familial adenomatous polyposis patients without APC truncating mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

The third 20 amino acid repeat is the tightest binding site of APC for beta-catenin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

Association of the APC gene product with beta-catenin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis.

21 January 2018

1 reference

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Challenge in the differentiation between attenuated familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer: case report with review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

Adenomatous Polyposis Families That ScreenAPCMutation–Negative by Conventional Methods Are Genetically Heterogeneous

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

7 January 2021

Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

7 January 2021

Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

7 January 2021

MSH2 genomic deletions are a frequent cause of HNPCC

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

7 January 2021

A novel exon duplication event leading to a truncating germ-line mutation of the APC gene in a familial adenomatous polyposis family

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

7 January 2021

APC mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

7 January 2021

310 basepair APC deletion with duplication of breakpoint (439ins15del310) in an Italian polyposis patient.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

7 January 2021

Identification of genomic deletions of the APC gene in familial adenomatous polyposis by two independent quantitative techniques

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201871

7 January 2021

Guidelines for the surveillance and management of familial adenomatous polyposis (FAP): a world wide survey among 41 registries

1 reference

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201871

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17568392%20AND%20SRC:MED&resulttype=core&format=json

release_mdv5cbkhung2lczommebffpd2e

31 December 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/mdv5cbkhung2lczommebffpd2e

24 November 2022

mapped directly with Wikidata item

1 reference