Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations (Q85651874)

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20 February 2020

title

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

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juvenile polyposis syndrome

20 February 2020

main subject

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1

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Tomi L Toler

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3

David T Miller

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author name string

Dianna M Milewicz

2

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Ronald V Lacro

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Ellen S Regalado

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Ana Maria Rosales

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Daniel P Ryan

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Angela E Lin

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publication date

13 December 2012

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American Journal of Medical Genetics

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published in

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volume

161A

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issue

1

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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

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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

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12 December 2020

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

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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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Aneurysm syndromes caused by mutations in the TGF-beta receptor

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Familial patterns of thoracic aortic aneurysms.

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12 December 2020

SMAD4 mutations found in unselected HHT patients.

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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

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12 December 2020

Essential role of endothelial Smad4 in vascular remodeling and integrity.

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12 December 2020

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

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12 December 2020

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

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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.

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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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment

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12 December 2020

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

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12 December 2020

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

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

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

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12 December 2020

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

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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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Deaths: final data for 1999.

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Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis

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

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

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Heterozygous TGFBR2 mutations in Marfan syndrome

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Juvenile polyposis--a precancerous condition.

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

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Familial thoracic aortic dilatations and dissections: a case control study

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

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12 December 2020

Identifiers

DOI

10.1002/AJMG.A.35659

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20 February 2020

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PubMed publication ID

23239472

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