Genetic and clinical characterisation of familial adenomatous polyposis: a population based study (Q35594693)

9 August 2017

Genetic and clinical characterisation of familial adenomatous polyposis: a population based study (English)

1 reference

familial adenomatous polyposis

9 August 2017

1 reference

2

H Järvinen

1 reference

9 August 2017

A-L Moisio

1

1 reference

PubMed ID

12010888

9 August 2017

P Peltomäki

series ordinal

3

1 reference

PubMed ID

12010888

9 August 2017

language of work or name

English

0 references

publication date

1 June 2002

1 reference

9 August 2017

1 reference

9 August 2017

50

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9 August 2017

6

1 reference

9 August 2017

845-850

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A proven de novo germline mutation in HNPCC

9 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Management of duodenal adenomas in 98 patients with familial adenomatous polyposis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Germline mutations in the beta-catenin gene are not associated with the FAP phenotype without an APC mutation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Analysis of masked mutations in familial adenomatous polyposis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Phenotypic differences in familial adenomatous polyposis based on APC gene mutation status

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Identification of c-MYC as a target of the APC pathway

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Genotype-phenotype correlations in attenuated adenomatous polyposis coli

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Mutations in beta-catenin are uncommon in colorectal cancer occurring in occasional replication error-positive tumors

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Activation of beta-catenin-Tcf signaling in colon cancer by mutations in beta-catenin or APC

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Hepatoblastoma and APC gene mutation in familial adenomatous polyposis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Lessons from hereditary colorectal cancer

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Genetic mapping of a locus predisposing to human colorectal cancer

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Mutations of the APC (adenomatous polyposis coli) gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Regulation of intracellular beta-catenin levels by the adenomatous polyposis coli (APC) tumor-suppressor protein

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Biallelic inactivation of the APC gene in hepatoblastoma.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Finnish Registry for Familial Adenomatosis Coli

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Simultaneous hepatoblastoma in identical male twins

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Identification and characterization of the familial adenomatous polyposis coli gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Childhood hepatoblastomas frequently carry a mutated degradation targeting box of the beta-catenin gene.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Germline APC mutation (Gln1317) in a cancer-prone family that does not result in familial adenomatous polyposis.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Molecular diagnosis of familial adenomatous polyposis.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

Germline mutations are frequent in the APC gene but absent in the beta-catenin gene in familial adenomatous polyposis patients

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773245

The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect

15 November 2018

1 reference

12 December 2020

Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation

1 reference

12 December 2020

Loss of maternal alleles on chromosome arm 11p in hepatoblastoma

1 reference

12 December 2020

The human gene mutation database

1 reference

12 December 2020

The familial adenomatous polyposis region exhibits many different haplotypes

1 reference

12 December 2020

The I1307K polymorphism of the APC gene in colorectal cancer

1 reference

12 December 2020

Unbalanced germ-line expression of hMLH1 and hMSH2 alleles in hereditary nonpolyposis colorectal cancer

1 reference

12 December 2020

Identifiers

DOI

10.1136/GUT.50.6.845

1 reference

9 August 2017

1 reference

9 August 2017

1 reference

PubMed ID

12010888