Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus (scientific article)

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

Q33973428

MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II

Q34000032

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

Q34107875

Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections

Q34381768

Guidelines for molecular karyotyping in constitutional genetic diagnosis

Q34653075

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

Q34712315

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

Q34785796

Pathogenesis of thoracic and abdominal aortic aneurysms

Q36689703

Lessons on the pathogenesis of aneurysm from heritable conditions

Q36756427

Etiology, pathogenesis and management of thoracic aortic aneurysm

Q36891880

Cellular and molecular mechanisms of thoracic aortic aneurysms

Q37626424

Epidemiology of aortic aneurysms: I. Mortality trends in the United States, 1951 to 1981.

Q41466852

Diagnosis and treatment of diseases of the aorta

Q41618136

Familial thoracic aortic aneurysms and dissections--incidence, modes of inheritance, and phenotypic patterns

Q43787071

Echocardiographic assessment of aortic root dimensions in normal children based on measurement of a new ratio of aortic size independent of growth

Q47356074

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

Q55671558

Patent ductus arteriosus in patients more than 50 years old

Q69547944

Differentiation, dedifferentiation, and apoptosis of smooth muscle cells during the development of the human ductus arteriosus

Q73352826

Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections

Q77178218

P433

issue

P921

main subject

patent ductus arteriosus

Q2072063

P304

page(s)

487-493

P577

publication date

2012-09-12

P1433

published in

European Journal of Human Genetics

Q2155433

P1476

title

Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus

P478

volume

Reverse relations

cites work (P2860)

Q36671177	A deleterious MYH11 mutation causing familial thoracic aortic dissection
Q39017923	Altered Smooth Muscle Cell Force Generation as a Driver of Thoracic Aortic Aneurysms and Dissections
Q33584198	An Autopsy Case of Sudden Unexpected Death of a Young Adult in a Hot Bath: Molecular Analysis Using Next-Generation DNA Sequencing
Q49464137	Application of Single-Nucleotide Polymorphism-Related Risk Estimates in Identification of Increased Genetic Susceptibility to Cardiovascular Diseases: A Literature Review
Q38803111	Canine congenital portosystemic shunts: Disconnections dissected
Q28601288	Epidemiology, presentation and population genetics of patent ductus arteriosus (PDA) in the Dutch Stabyhoun dog
Q26828019	Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-β signaling and vascular smooth muscle cell contractility
Q63493302	Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa
Q36866985	Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.
Q55738656	Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes
Q53368622	Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection.
Q92685489	Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease
Q36820944	Structure of the Elastin-Contractile Units in the Thoracic Aorta and How Genes That Cause Thoracic Aortic Aneurysms and Dissections Disrupt This Structure
Q103836849	Structure of the shutdown state of myosin-2
Q58130092	Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease
Q93004740	The Genetics of Thoracic Aortic Aneurysms and Dissection: A Clinical Perspective
Q38583904	The genetic architecture of non-syndromic thoracic aortic aneurysm
Q38390118	Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.