|
rs137854461
|
|
Marfan Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype.
|
9254848 |
1997 |
|
rs137854461
|
|
Marfan Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Health supervision for children with Marfan syndrome. American Academy of Pediatrics Committee on Genetics.
|
8909500 |
1996 |
|
rs137854461
|
|
Marfan Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.
|
7738200 |
1995 |
|
rs137854461
|
|
Marfan Syndrome
|
C |
0.820 |
CausalMutation
|
CLINVAR |
A mutation causing an Asn-2144 --> Ser amino acid change in one of the potential calcium binding residues has been described in a patient with the Marfan syndrome.
|
7896820 |
1995 |
|
rs137854461
|
|
Marfan Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A new missense mutation of fibrillin in a patient with Marfan syndrome.
|
8071963 |
1994 |
|
rs137854461
|
|
Marfan Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
|
7870075 |
1994 |
|
rs137854461
|
|
Marfan Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients.
|
8004112 |
1994 |
|
rs137854461
|
|
Marfan Syndrome
|
|
0.820 |
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 |
|
rs137854461
|
|
Marfan Syndrome
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains.
|
8281141 |
1993 |
|
rs137854461
|
|
Marfan Syndrome
|
|
0.820 |
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 |
|
rs137854461
|
|
Marfan Syndrome
|
C |
0.820 |
CausalMutation
|
CLINVAR |
A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module.
|
8504310 |
1993 |
|
rs137854461
|
|
Marfan Syndrome
|
C |
0.820 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs137854462
|
|
Marfan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs137854462
|
|
Marfan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs137854462
|
|
Marfan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
|
24882528 |
2014 |
|
rs137854462
|
|
Marfan Syndrome
|
|
0.810 |
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 |
|
rs137854462
|
|
Marfan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.
|
22772377 |
2013 |
|
rs137854462
|
|
Marfan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs137854462
|
|
Marfan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Evaluation of the adolescent or adult with some features of Marfan syndrome.
|
22237449 |
2012 |
|
rs137854462
|
|
Marfan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
|
19941982 |
2010 |
|
rs137854462
|
|
Marfan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
The revised Ghent nosology for the Marfan syndrome.
|
20591885 |
2010 |
|
rs137854462
|
|
Marfan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.
|
19533785 |
2009 |
|
rs137854462
|
|
Marfan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
|
17657824 |
2007 |
|
rs137854462
|
|
Marfan Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Guidelines for the diagnosis and management of Marfan syndrome.
|
17188935 |
2007 |
|
rs137854462
|
|
Marfan Syndrome
|
|
0.810 |
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 |