(Q42719337)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485167%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485167%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

author name string

Davies DR

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485167%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Armstrong JG

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485167%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Thakker N

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485167%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Horner K

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485167%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Guy SP

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485167%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Clancy T

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485167%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Sloan P

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485167%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Blair V

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485167%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Dodd C

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485167%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Warnes TW

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485167%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

language of work or name

English

0 references

publication date

1 November 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485167%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

19 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485167%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

volume

57

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485167%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

issue

5

1 reference

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19 October 2019

page(s)

1151-1158

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485167%20AND%20SRC:MED&resulttype=core&format=json

Follow-up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas and epidermal cysts.

19 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

Genetic heterogeneity of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in families with familial adenomatous polyposis

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

Desmoid tumours in familial adenomatous polyposis

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

Mutations of the APC (adenomatous polyposis coli) gene

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

The dental phenotype in familial adenomatous polyposis: diagnostic application of a weighted scoring system for changes on dental panoramic radiographs

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

Identification of deletion mutations and three new genes at the familial polyposis locus

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

Value of combined phenotypic markers in identifying inheritance of familial adenomatous polyposis

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

Identification of FAP locus genes from chromosome 5q21

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

Identification and characterization of the familial adenomatous polyposis coli gene

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

The UK Northern region genetic register for familial adenomatous polyposis coli: use of age of onset, congenital hypertrophy of the retinal pigment epithelium, and DNA markers in risk calculations

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

The occult osteomatous changes in the mandible in patients with familial polyposis coli

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

Upper gastrointestinal cancer in familial adenomatous polyposis.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

Hereditary pattern for multiple osteomas in a family group

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

Molecular diagnosis of familial adenomatous polyposis.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

Coexistence of somatic and germ-line mutations of APC gene in desmoid tumors from patients with familial adenomatous polyposis.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

Somatic mutation of APC gene in desmoid tumour in familial adenomatous polyposis.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801370

Gardner's dento-maxillary stigmas in patients with familial adenomatosis coli

1 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7485167

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Prevalence and importance of pigmented ocular fundus lesions in Gardner's syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7485167

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

One gene—four syndromes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7485167

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7485167%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

PubMed publication ID

7485167

1 reference