Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.
about
Mitral valve disease--morphology and mechanisms.Epidemiology and pathophysiology of mitral valve prolapse: new insights into disease progression, genetics, and molecular basisTGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.MAT2A mutations predispose individuals to thoracic aortic aneurysmsAbsence of cardiovascular manifestations in a haploinsufficient Tgfbr1 mouse model.Preventing the aortic complications of Marfan syndrome: a case-example of translational genomic medicineEchocardiographic versus histologic findings in Marfan syndrome.Connective tissue disorders and cardiovascular complications: the indomitable role of transforming growth factor-beta signalingAggressive aortic replacement for Loeys-Dietz syndrome.Genotype-phenotype analysis of F-helix mutations at the kinase domain of TGFBR2, including a type 2 Marfan syndrome familial study.New Genetic Insights into Congenital Heart Disease.Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.Unchaining the beast; insights from structural and evolutionary studies on TGFβ secretion, sequestration, and activationTB domain proteins: evolutionary insights into the multifaceted roles of fibrillins and LTBPs.Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings.Management of acute aortic syndromes.Mitral valve disease in Marfan syndrome and related disorders.Genetics of thoracic aortic aneurysms.Proteomics in aortic aneurysm--what have we learnt so far?Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes.Use of genetics for personalized management of heritable thoracic aortic disease: how do we get there?Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.Biometry Characteristics in Adults and Children With Marfan Syndrome: From the Marfan Eye Consortium of Chicago.International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).Cardiovascular surgery in Loeys-Dietz syndrome types 1-4.Skeletal evolution in Marfan syndrome: Growth curves from French national cohort.Associations of Age and Sex With Marfan Phenotype: The National Heart, Lung, and Blood Institute GenTAC (Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) Registry.Genes Associated with Thoracic Aortic Aneurysm and Dissection: An Update and Clinical Implications.Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis.Molecular mechanisms of inherited thoracic aortic disease - from gene variant to surgical aneurysm.TGF-β1: Mediator of a feedback loop in eosinophilic esophagitis--or should we really say mastocytic esophagitis?A descriptive study of ocular characteristics in Marfan syndrome.Cardiovascular manifestations in men and women carrying a FBN1 mutation.Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.Thoracic Aortic Aneurysm Development in Patients with Bicuspid Aortic Valve: What Is the Role of Endothelial Cells?Genetics of syndromic and non-syndromic mitral valve prolapse.Heterogeneity of aortic disease severity in patients with Loeys-Dietz syndrome.Loeys-Dietz syndrome is a specific phenotype and not a concomitant of any mutation in a gene involved in TGF-β signaling.WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases.
P2860
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P2860
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh
2009年學術文章
@zh-hant
name
Comparison of clinical present ...... yndrome and related disorders.
@en
Comparison of clinical present ...... yndrome and related disorders.
@nl
type
label
Comparison of clinical present ...... yndrome and related disorders.
@en
Comparison of clinical present ...... yndrome and related disorders.
@nl
prefLabel
Comparison of clinical present ...... yndrome and related disorders.
@en
Comparison of clinical present ...... yndrome and related disorders.
@nl
P2093
P50
P1433
P1476
Comparison of clinical present ...... yndrome and related disorders.
@en
P2093
Annick Rossi
Carine Roy
Chantal Stheneur
Christine Francannet
Daniel Sidi
David Attias
Delphine Detaint
Franck Iserin
Guillaume Jondeau
Henri Plauchu
P304
P356
10.1161/CIRCULATIONAHA.109.887042
P407
P50
P577
2009-12-07T00:00:00Z