Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
|
7870075 |
1994 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.
|
12203992 |
2002 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred.
|
7951214 |
1994 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Health supervision for children with Marfan syndrome. American Academy of Pediatrics Committee on Genetics.
|
8909500 |
1996 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.
|
22772377 |
2013 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
|
19941982 |
2010 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains.
|
8281141 |
1993 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Guidelines for the diagnosis and management of Marfan syndrome.
|
17188935 |
2007 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.
|
16222657 |
2005 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.
|
16220557 |
2005 |
Marfan Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.
|
15241795 |
2004 |
Marfan Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.
|
27437668 |
2016 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.
|
8406497 |
1993 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
|
24882528 |
2014 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
|
17657824 |
2007 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.
|
11826022 |
2002 |
Marfan Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.
|
21542060 |
2011 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome.
|
10425041 |
1999 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Evaluation of the adolescent or adult with some features of Marfan syndrome.
|
22237449 |
2012 |
Marfan Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
|
27611364 |
2016 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).
|
25173340 |
2014 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
|
11700157 |
2001 |