(Q74457668)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12116240%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

Novel de novo mutation of MADH4/SMAD4 in a patient with juvenile polyposis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12116240%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12116240%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

4

Peter Propping

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12116240%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

Siegfried Uhlhaas

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12116240%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Elisabeth Mangold

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12116240%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Waltraut Friedl

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12116240%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Dieter Jenne

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12116240%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Gerhard Dockter

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12116240%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Walter Back

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12116240%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

publication date

1 July 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12116240%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

10 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12116240%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

volume

110

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12116240%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

issue

3

1 reference

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10 November 2019

page(s)

289-291

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12116240%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10411

PTEN and inherited hamartoma-cancer syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10411

Frequent 4-bp deletion in exon 9 of the SMAD4/MADH4 gene in familial juvenile polyposis patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10411

DPC4, a candidate tumor suppressor gene at human chromosome 18q21.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10411

Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10411

A gene for familial juvenile polyposis maps to chromosome 18q21.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10411

Mutations in the SMAD4/DPC4 gene in juvenile polyposis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10411

Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10411

Germline mutations of the dpc4 gene in Korean juvenile polyposis patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10411

PTEN germ-line mutations in juvenile polyposis coli

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10411

SMAD genes in juvenile polyposis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10411

A structural basis for mutational inactivation of the tumour suppressor Smad4

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10411

Analysis of genetic and phenotypic heterogeneity in juvenile polyposis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10411

21 January 2018

Identifiers

DOI

10.1002/AJMG.10411

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12116240%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference