(Q57735460)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22331366%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

title

Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22331366%20AND%20SRC:MED&resulttype=core&format=json

hereditary hemorrhagic telangiectasia

22 January 2020

main subject

0 references

1 reference

1 reference

1 reference

6

1 reference

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22 January 2020

8

Steven Gallinger

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22331366%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

author name string

Frank Schwenter

1

1 reference

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22 January 2020

Terri Berk

4

1 reference

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22 January 2020

Robert Gryfe

5

1 reference

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22 January 2020

Zane Cohen

7

1 reference

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22 January 2020

Carol Durno

9

1 reference

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22 January 2020

Marie E Faughnan

2

1 reference

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22 January 2020

Abigail B Gradinger

3

1 reference

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22 January 2020

publication date

14 February 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22331366%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

number of pages

10

1 reference

Journal of Gastroenterology

inferred from page(s)

published in

1 reference

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22 January 2020

volume

47

1 reference

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22 January 2020

issue

7

1 reference

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22 January 2020

page(s)

795-804

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22331366%20AND%20SRC:MED&resulttype=core&format=json

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

22 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00535-012-0545-8

Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00535-012-0545-8

Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00535-012-0545-8

Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00535-012-0545-8

Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00535-012-0545-8

Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00535-012-0545-8

Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00535-012-0545-8

A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlinked to the known HHT genes, endoglin and ALK-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00535-012-0545-8

A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00535-012-0545-8

A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00535-012-0545-8

Genetic conditions associated with intestinal juvenile polyps

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00535-012-0545-8

An audit of familial juvenile polyposis at the Tel Aviv Medical Center: demographic, genetic and clinical features

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00535-012-0545-8

Juvenile polyposis: case report and assessment of the neoplastic risk in 271 patients reported in the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00535-012-0545-8

Risk of colorectal cancer in juvenile polyposis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00535-012-0545-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00535-012-0545-8

Mutations in the SMAD4/DPC4 gene in juvenile polyposis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00535-012-0545-8

The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00535-012-0545-8

Juvenile polyposis occurring in hereditary hemorrhagic telangiectasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00535-012-0545-8

SMAD4 mutation and the combined syndrome of juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00535-012-0545-8

SMAD4 mutations found in unselected HHT patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00535-012-0545-8

The pulmonary vascular complications of hereditary haemorrhagic telangiectasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00535-012-0545-8

Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00535-012-0545-8

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00535-012-0545-8

Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00535-012-0545-8

Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00535-012-0545-8

International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00535-012-0545-8

Hereditary hemorrhagic telangiectasia associated with multiple pulmonary arteriovenous malformations and juvenile polyposis.

21 January 2018

1 reference

12 December 2020

Life-threatening pulmonary hemorrhage with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia

1 reference

12 December 2020

The risk of gastrointestinal carcinoma in familial juvenile polyposis

1 reference

12 December 2020

Hereditary hemorrhagic telangiectasia and juvenile polyposis: an overlap of syndromes

1 reference

12 December 2020

Hereditary generalized juvenile polyposis associated with pulmonary arteriovenous malformation

1 reference

12 December 2020

Hereditary hemorrhagic telangiectasia with juvenile polyposis--coincidence or linked autosomal dominant inheritance?

1 reference

12 December 2020

[A case of Rendu-Osler-Weber disease associated with simultaneous, multiple advanced cancers in the colon]

1 reference

12 December 2020

Juvenile polyposis--a precancerous condition.

1 reference

12 December 2020

Solitary juvenile polyps: not a marker for subsequent malignancy.

1 reference

12 December 2020

Hereditary hamartomatous polyposis syndromes: understanding the disease risks as children reach adulthood

1 reference

12 December 2020

Prevalence of pulmonary arteriovenous malformations (PAVMs) and occurrence of neurological symptoms in patients with hereditary haemorrhagic telangiectasia (HHT)

1 reference

12 December 2020

Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients

1 reference

12 December 2020

The prevalence and manifestations of hereditary hemorrhagic telangiectasia in the Afro-Caribbean population of the Netherlands Antilles: a family screening

1 reference

12 December 2020

1 reference

12 December 2020

Risk and surveillance of individuals with heritable factors for colorectal cancer. WHO Collaborating Centre for the Prevention of Colorectal Cancer

1 reference

12 December 2020

Association of juvenile and adenomatous polyposis with pulmonary arteriovenous malformation and hypertrophic osteoarthropathy

1 reference

12 December 2020

Juvenile colonic polyposis associated with congenital heart disease

1 reference

12 December 2020

A case of adenocarcinoma of the colon in a patient with hereditary hemorrhagic telangiectasis

1 reference

12 December 2020

Generalized juvenile polyposis with pulmonary arteriovenous malformations and hypertrophic osteoarthropathy

1 reference

12 December 2020

10.1007/S00535-012-0545-8

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22331366%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

1 reference