(Q33683226)

28 July 2017

title

Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study (English)

1 reference

familial adenomatous polyposis

28 July 2017

main subject

1 reference

Distante S

1

1 reference

28 July 2017

Nasioulas S

2

1 reference

28 July 2017

Somers GR

3

1 reference

28 July 2017

Cameron DJ

4

1 reference

28 July 2017

Young MA

5

1 reference

28 July 2017

Forrest SM

6

1 reference

28 July 2017

Gardner RJ

7

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 February 1996

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

33

1 reference

28 July 2017

issue

2

1 reference

28 July 2017

page(s)

157-160

1 reference

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

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

Mutations of the APC (adenomatous polyposis coli) gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

Familial adenomatous polyposis.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

APC mutation associated with late onset of familial adenomatous polyposis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

The genetic testing of children. Working Party of the Clinical Genetics Society (UK)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

Colon cancer in a 16-year-old girl.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

GIG response to the UK Clinical Genetics Society report "The genetic testing of children"

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

The molecular basis of Turcot's syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

Multiple polyposis in children: a review and a report of a case in a 6-year-old child who had associated nephrosis and asthma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

Clinical features in familial polyposis coli. Results of the Danish Polyposis Register.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

Severe colonic dysplasia in a child with familial adenomatous polyposis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

Colorectal neoplasia in juvenile polyposis or juvenile polyps

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

Identification and characterization of the familial adenomatous polyposis coli gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

Detection of 12 germ-line mutations in the adenomatous polyposis coli gene by polymerase chain reaction.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

Age of onset in familial adenomatous polyposis: heterogeneity within families and among APC mutations.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

The gene for familial polyposis coli maps to the long arm of chromosome 5.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

Removing the shadow of the law from the debate about genetic testing of children

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051844

Familial polyposis in children

30 October 2018

1 reference

12 December 2020

Familial juvenile polyposis coli and colorectal cancer

1 reference

12 December 2020

Protein truncation test (PTT) for rapid detection of translation-terminating mutations

1 reference

12 December 2020

Malignant risk in juvenile polyposis coli: increasing documentation in the pediatric age group

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.33.2.157

1 reference

28 July 2017

1 reference

28 July 2017

1 reference