(Q85651874)

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20 February 2020

title

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

1 reference

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juvenile polyposis syndrome

20 February 2020

main subject

1 reference

1 reference

1

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20 February 2020

Tomi L Toler

8

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20 February 2020

3

David T Miller

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20 February 2020

author name string

Dianna M Milewicz

2

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20 February 2020

Ronald V Lacro

4

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20 February 2020

Ellen S Regalado

5

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20 February 2020

Ana Maria Rosales

6

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20 February 2020

Daniel P Ryan

7

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20 February 2020

Angela E Lin

9

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20 February 2020

publication date

13 December 2012

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American Journal of Medical Genetics

20 February 2020

published in

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20 February 2020

volume

161A

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20 February 2020

issue

1

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20 February 2020

page(s)

185-191

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

20 February 2020

cites work

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12 December 2020

Mutations in the SMAD4/DPC4 gene in juvenile polyposis

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12 December 2020

Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections

1 reference

12 December 2020

Myhre syndrome in a female with previously undescribed symptoms: further delineation of the phenotype.

1 reference

12 December 2020

Mutation screening in juvenile polyposis syndrome

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12 December 2020

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

1 reference

12 December 2020

Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome

1 reference

12 December 2020

Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

1 reference

12 December 2020

Aneurysm syndromes caused by mutations in the TGF-beta receptor

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12 December 2020

Familial patterns of thoracic aortic aneurysms.

1 reference

12 December 2020

SMAD4 mutations found in unselected HHT patients.

1 reference

12 December 2020

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

1 reference

12 December 2020

Essential role of endothelial Smad4 in vascular remodeling and integrity.

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction

1 reference

12 December 2020

The regulation of TGFbeta signal transduction

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12 December 2020

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

1 reference

12 December 2020

2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guideli

1 reference

12 December 2020

The revised Ghent nosology for the Marfan syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β.

1 reference

12 December 2020

Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

1 reference

12 December 2020

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

1 reference

12 December 2020

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

1 reference

12 December 2020

Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms

1 reference

12 December 2020

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

1 reference

12 December 2020

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

1 reference

12 December 2020

Deaths: final data for 1999.

1 reference

12 December 2020

Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis

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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

Heterozygous TGFBR2 mutations in Marfan syndrome

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12 December 2020

Juvenile polyposis--a precancerous condition.

1 reference

12 December 2020

Two-dimensional echocardiographic aortic root dimensions in normal children and adults

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12 December 2020

Familial thoracic aortic dilatations and dissections: a case control study

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12 December 2020

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.35659

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20 February 2020

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20 February 2020

PubMed publication ID

23239472

1 reference