(Q30444901)

17 October 2017

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

1 reference

familial adenomatous polyposis

17 October 2017

1 reference

1 reference

7

G M Petersen

1 reference

17 October 2017

J D Brensinger

1

1 reference

17 October 2017

S J Laken

2

1 reference

17 October 2017

M C Luce

3

1 reference

17 October 2017

S M Powell

4

1 reference

17 October 2017

G H Vance

5

1 reference

17 October 2017

D J Ahnen

6

1 reference

17 October 2017

S R Hamilton

8

1 reference

17 October 2017

F M Giardiello

9

1 reference

17 October 2017

language of work or name

English

0 references

publication date

1 October 1998

1 reference

17 October 2017

1 reference

17 October 2017

43

1 reference

17 October 2017

548-552

1 reference

17 October 2017

4

1 reference

The clinical correlates of a 3' truncating mutation (codons 1982-1983) in the adenomatous polyposis coli gene.

17 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727294

Phenotypic expression of disease in families that have mutations in the 5' region of the adenomatous polyposis coli gene.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727294

Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727294

Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727294

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727294

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727294

Germ-line mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727294

Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727294

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727294

Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727294

Genetic analysis of an inherited predisposition to colon cancer in a family with a variable number of adenomatous polyps

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727294

Screening guidelines and premorbid diagnosis of familial adenomatous polyposis using linkage

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727294

Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727294

Identification of FAP locus genes from chromosome 5q21

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727294

Identification and characterization of the familial adenomatous polyposis coli gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727294

Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727294

Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727294

Linkage of a variant or attenuated form of adenomatous polyposis coli to the adenomatous polyposis coli (APC) locus

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727294

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727294

Attenuated familial adenomatous polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727294

Molecular diagnosis of familial adenomatous polyposis.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727294

Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727294

Flat Adenomas in a Colon Cancer-Prone Kindred1

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9824584

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Phenotypic variation in colorectal adenoma/cancer expression in two families. Hereditary flat adenoma syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9824584

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Attenuated familial adenomatous polyposis due to a mutation in the 3' part of the APC gene. A clue for understanding the function of the APC protein

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9824584

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/GUT.43.4.548

1 reference

17 October 2017

1 reference

17 October 2017

1 reference