Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas (Q34015467)

30 July 2017

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

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familial adenomatous polyposis

30 July 2017

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19

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C Albuquerque

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Malcolm G. Dunlop

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object named as

M G Dunlop

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S Hodgson

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I P M Tomlinson

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O M Sieber

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H Lamlum

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M D Crabtree

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A J Rowan

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E Barclay

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L Lipton

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H J W Thomas

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K Neale

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R K S Phillips

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S M Farrington

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H J Mueller

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M L Bisgaard

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S Bulow

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P Fidalgo

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M I Scarano

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K Heinimann

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30 July 2017

language of work or name

English

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publication date

26 February 2002

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Proceedings of the National Academy of Sciences of the United States of America

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30 July 2017

99

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2954-2958

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5

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Explaining variation in familial adenomatous polyposis: relationship between genotype and phenotype and evidence for modifier genes

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122454

Variability in the severity of colonic disease in familial adenomatous polyposis results from differences in tumour initiation rather than progression and depends relatively little on patient age.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122454

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122454

The adenomatous polyposis coli (APC) tumour suppressor--genetics, function and disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122454

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122454

Genetic susceptibility to non-polyposis colorectal cancer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122454

APC mutations in familial adenomatous polyposis families in the Northwest of England.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122454

APC intragenic haplotypes in familial adenomatous polyposis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122454

Germline mutations in the 3' part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122454

Familial adenomatous polyposis: a submicroscopic deletion at the APC locus in a family with mentally normal patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122454

APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122454

Two cases of 5q deletions in patients with familial adenomatous polyposis: possible link with Caroli's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122454

Alleles of the APC gene: an attenuated form of familial polyposis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122454

Frequent polymorphism in exon 15 of the adenomatous polyposis coli gene.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122454

A simple salting out procedure for extracting DNA from human nucleated cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122454

Localization of the gene for familial adenomatous polyposis on chromosome 5.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122454

SspI polymorphism in sequence encoding 3' untranslated region of the APC gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122454

Identification and characterization of the familial adenomatous polyposis coli gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122454

Molecular analysis of APC mutations in familial adenomatous polyposis and sporadic colon carcinomas

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122454

Two intragenic polymorphisms of the APC-gene detected by PCR and enzymatic digestion

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122454

Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122454

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

5 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.042699199

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.042699199

The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.042699199

Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122454

MSH2 genomic deletions are a frequent cause of HNPCC

29 October 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.042699199

Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liabilit

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.042699199

Nontruncating APC germ-line mutations and mismatch repair deficiency play a minor role in APC mutation-negative polyposis

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11867715

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.042699199

1 reference

release_tqnxkph4jvcpzhag2ilqaon3cy

30 July 2017

0 references

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/tqnxkph4jvcpzhag2ilqaon3cy

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMCID

122454

1 reference

30 July 2017

1 reference