Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations
出版年份 2016 全文链接
标题
Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations
作者
关键词
Thoracic aortic aneurysm and dissections, Next-generation sequencing, Diagnosis, Marfan syndrome, Loeys–Dietz syndrome, Shprintzen–Goldberg syndrome
出版物
Journal of Translational Medicine
Volume 14, Issue 1, Pages -
出版商
Springer Nature
发表日期
2016-05-04
DOI
10.1186/s12967-016-0870-4
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy
- (2015) Whitney Wooderchak-Donahue et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting
- (2015) Bulat A. Ziganshin et al. ANNALS OF THORACIC SURGERY
- Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes
- (2015) Dorien Proost et al. HUMAN MUTATION
- Does p.Q247X in TRIM63 Cause Human Hypertrophic Cardiomyopathy?
- (2014) Rafał Płoski et al. CIRCULATION RESEARCH
- Transforming Growth Factor- and Inflammation in Vascular (Type IV) Ehlers-Danlos Syndrome
- (2014) R. Morissette et al. Circulation-Cardiovascular Genetics
- The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome
- (2014) Dorien Schepers et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: Role of dural ectasia for the diagnosis
- (2013) Monica Attanasio et al. European Journal of Medical Genetics
- Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome
- (2013) Jan J.J. Aalberts et al. GENE
- TGF Receptor Mutations Impose a Strong Predisposition for Human Allergic Disease
- (2013) P. A. Frischmeyer-Guerrerio et al. Science Translational Medicine
- Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus
- (2012) Magdalena Harakalova et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Amplification of GC-rich DNA for High-Throughput Family-Based Genetic Studies
- (2012) Sadaf Naz et al. MOLECULAR BIOTECHNOLOGY
- Evaluating Japanese Patients With the Marfan Syndrome Using High-Throughput Microarray-Based Mutational Analysis of Fibrillin-1 Gene
- (2011) Naomi Ogawa et al. AMERICAN JOURNAL OF CARDIOLOGY
- Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities
- (2011) DO Robinson et al. CLINICAL GENETICS
- Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes
- (2011) Mine Arslan-Kirchner et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2)
- (2011) E. Disabella et al. HEART
- Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome
- (2011) Ingrid M B H van de Laar et al. JOURNAL OF MEDICAL GENETICS
- Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
- (2011) Ingrid M B H van de Laar et al. NATURE GENETICS
- Recurrent and founder mutations in the Netherlands
- (2011) J. J. J. Aalberts et al. Netherlands Heart Journal
- Genetic Testing in Aortic Aneurysm Disease: PRO
- (2010) Dianna M. Milewicz et al. CARDIOLOGY CLINICS
- 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease
- (2010) et al. CIRCULATION
- The revised Ghent nosology for the Marfan syndrome
- (2010) B. L. Loeys et al. JOURNAL OF MEDICAL GENETICS
- Thoracic Aortic Aneurysm
- (2010) John A. Elefteriades et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease
- (2009) Dong-Chuan Guo et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novelFBN1mutations
- (2009) B Söylen et al. CLINICAL GENETICS
- Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation
- (2009) E-H Yoo et al. CLINICAL GENETICS
- Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene
- (2009) Chantal Stheneur et al. EUROPEAN JOURNAL OF HUMAN GENETICS
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