Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome.
about
Educational paper. Connective tissue disorders with vascular involvement: from gene to therapyPerspectives on the revised Ghent criteria for the diagnosis of Marfan syndromeRare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosisEconomic and care considerations of Marfan syndrome.New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family.A novel fibrillin 1 gene mutation leading to marfan syndrome with minimal cardiac features.The main pulmonary artery in adults: a controlled multicenter study with assessment of echocardiographic reference values, and the frequency of dilatation and aneurysm in Marfan syndrome.Observational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations.First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis.Diagnosis and treatment of Marfan syndrome: an update.Difficulties in diagnosing Marfan syndrome using current FBN1 databases.Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases.Addendum.Genetic diagnostics of inherited aortic diseases : Medical strategy analysis.The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums.
P2860
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P2860
Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh-hant
name
Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome.
@en
Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome.
@nl
type
label
Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome.
@en
Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome.
@nl
prefLabel
Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome.
@en
Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome.
@nl
P2093
P2860
P1433
P1476
Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome.
@en
P2093
A M Bernhardt
C R Habermann
J Schmidtke
M Arslan-Kirchner
M Hillebrand
M Rybczynski
P2860
P304
P356
10.1111/J.1399-0004.2011.01771.X
P577
2011-10-05T00:00:00Z