(Q34017179)

30 July 2017

title

Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review (English)

1 reference

multicenter clinical trial

30 July 2017

main subject

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9

Jeffrey N Weitzel

1 reference

30 July 2017

10

Noralane M Lindor

1 reference

30 July 2017

Karen E Wain

1

1 reference

30 July 2017

Marissa S Ellingson

2

1 reference

30 July 2017

Jamie McDonald

3

1 reference

30 July 2017

Amanda Gammon

4

1 reference

30 July 2017

Maegan Roberts

5

1 reference

30 July 2017

Pavel Pichurin

6

1 reference

30 July 2017

Ingrid Winship

7

1 reference

30 July 2017

Douglas L Riegert-Johnson

8

1 reference

30 July 2017

language of work or name

English

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publication date

13 February 2014

1 reference

30 July 2017

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30 July 2017

volume

16

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30 July 2017

issue

8

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30 July 2017

page(s)

588-593

1 reference

Barrett esophagus and risk of esophageal cancer: a clinical review

30 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=4125531

Juvenile polyposis syndrome: a study of genotype, phenotype, and long-term outcome

28 July 2018

1 reference

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Genetics of thoracic aortic aneurysms

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125531

Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125531

Juvenile polyposis 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=4125531

A novel human Smad4 mutation is involved in papillary thyroid carcinoma progression.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125531

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125531

Identification of germline alterations of the mad homology 2 domain of SMAD3 and SMAD4 from the Ontario site of the breast cancer family registry (CFR)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125531

Aberrant TGFβ/SMAD4 signaling contributes to epigenetic silencing of a putative tumor suppressor, RunX1T1 in ovarian 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=4125531

Smad4 mediates malignant behaviors of human ovarian carcinoma cell through the effect on expressions of E-cadherin, plasminogen activator inhibitor-1 and VEGF

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125531

Role of reduced expression of SMAD4 in papillary thyroid carcinoma.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125531

Extending comprehensive cancer center expertise in clinical cancer genetics and genomics to diverse communities: the power of partnership

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125531

Juvenile Polyposis 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=4125531

Smad4-mediated TGF-beta signaling in tumorigenesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125531

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

28 July 2018

1 reference

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Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile 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=4125531

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125531

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125531

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125531

Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125531

Common deletion of SMAD4 in juvenile polyposis is a mutational hotspot

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125531

Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125531

SMAD4 mutations in colorectal cancer probably occur before chromosomal instability, but after divergence of the microsatellite instability pathway

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125531

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125531

Mutations in the SMAD4/DPC4 gene in juvenile 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=4125531

Hereditary hemorrhagic telangiectasia associated with multiple pulmonary arteriovenous malformations and juvenile 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=4125531

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125531

Hereditary generalized juvenile polyposis associated with pulmonary arteriovenous malformation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125531

28 July 2018

Juvenile polyposis coli

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4125531

Hereditary generalized juvenile polyposis: association with arteriovenous malformations and risk of malignancy

28 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.5

Juvenile polyposis occurring in hereditary hemorrhagic telangiectasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.5

SMAD4 mutations found in unselected HHT patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.5

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.5

High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.5

The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.5

TGF-beta/Smad pathway and BRAF mutation play different roles in circumscribed and infiltrative papillary thyroid carcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.5

Altered expression of Smad proteins in T or NK-cell lymphomas.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.5

Thoracic endografting in a patient with hereditary hemorrhagic telangiectasia presenting with a descending thoracic aneurysm

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.5

Large aneurysms of the ascending aorta and major coronary arteries in a patient with hereditary hemorrhagic telangiectasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.5

Analysis of genetic and phenotypic heterogeneity in juvenile polyposis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.5

The Prevalence of Hereditary Hemorrhagic Telangiectasia in Juvenile Polyposis Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.5

Molecular Classification of Patients With Unexplained Hamartomatous and Hyperplastic Polyposis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.5

The natural history of epistaxis in hereditary hemorrhagic telangiectasia

21 January 2018

1 reference

12 December 2020

Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers

1 reference

12 December 2020

Germline mutations of the dpc4 gene in Korean juvenile polyposis patients

1 reference

12 December 2020

The risk of gastrointestinal carcinoma in familial juvenile polyposis

1 reference

12 December 2020

Gastric involvement in juvenile polyposis associated with germline SMAD4 mutations: an entity characterized by a mixed hypertrophic and polypoid gastropathy

1 reference

12 December 2020

Malignant potential in intestinal juvenile polyposis syndromes

1 reference

12 December 2020

Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations

1 reference

12 December 2020

SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction

1 reference

12 December 2020

[A case of combined syndrome of juvenile polyposis and hereditary hemorrhagic telangiectasia associated with SMAD4 mutation]

1 reference

12 December 2020

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

1 reference

12 December 2020

Generalized juvenile polyposis with pulmonary arteriovenous malformations and hypertrophic osteoarthropathy

1 reference

12 December 2020

Identifiers

DOI

10.1038/GIM.2014.5

1 reference

30 July 2017

1 reference

30 July 2017

1 reference