(Q42690216)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7864589%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

title

Age of onset in familial adenomatous polyposis: heterogeneity within families and among APC mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7864589%20AND%20SRC:MED&resulttype=core&format=json

familial adenomatous polyposis

27 October 2019

main subject

1 reference

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7864589%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

author name string

S Presciuttini

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7864589%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

L Varesco

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7864589%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

P Sala

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7864589%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

V Gismondi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7864589%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

C Rossetti

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7864589%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

A Bafico

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7864589%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

G B Ferrara

7

1 reference

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27 October 2019

language of work or name

English

0 references

publication date

1 October 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7864589%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

published in

Annals of Human Genetics

1 reference

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27 October 2019

volume

58

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7864589%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

issue

4

1 reference

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27 October 2019

page(s)

331-342

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7864589%20AND%20SRC:MED&resulttype=core&format=json

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

27 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00730.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00730.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00730.X

Identification and characterization of the familial adenomatous polyposis coli gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00730.X

Anticipation in myotonic dystrophy: fact or fiction?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00730.X

Identification of FAP locus genes from chromosome 5q21

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00730.X

Exon eight APC mutations account for a disproportionate number of familial adenomatous polyposis families

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00730.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00730.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00730.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00730.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00730.X

Association of the APC gene product with beta-catenin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00730.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00730.X

Association of the APC tumor suppressor protein with catenins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00730.X

Mutation in a splice-donor site of the APC gene in a family with polyposis and late age of colonic cancer death

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-1809.1994.TB00730.X

10.1111/J.1469-1809.1994.TB00730.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7864589%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference