|
rs137854460
|
|
Marfan Syndrome
|
G |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs137854460
|
|
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 |
|
rs137854460
|
|
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 |
|
rs137854460
|
|
Marfan Syndrome
|
|
0.800 |
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 |
|
rs137854460
|
|
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 |
|
rs137854460
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
|
7870075 |
1994 |
|
rs137854460
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A new missense mutation of fibrillin in a patient with Marfan syndrome.
|
8071963 |
1994 |
|
rs137854460
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.
|
7738200 |
1995 |
|
rs137854460
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Health supervision for children with Marfan syndrome. American Academy of Pediatrics Committee on Genetics.
|
8909500 |
1996 |
|
rs137854460
|
|
Marfan Syndrome
|
|
0.800 |
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 |
|
rs137854460
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome.
|
10425041 |
1999 |
|
rs137854460
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.
|
10441597 |
1999 |
|
rs137854460
|
|
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 |
|
rs137854460
|
|
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 |
|
rs137854460
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.
|
11826022 |
2002 |
|
rs137854460
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases.
|
15184297 |
2004 |
|
rs137854460
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.
|
15161917 |
2004 |
|
rs137854460
|
|
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 |
|
rs137854460
|
|
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 |
|
rs137854460
|
|
Marfan Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
The molecular genetics of Marfan syndrome and related disorders.
|
16571647 |
2006 |
|
rs137854460
|
|
Marfan Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain.
|
16905551 |
2006 |
|
rs137854460
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Guidelines for the diagnosis and management of Marfan syndrome.
|
17188935 |
2007 |
|
rs137854460
|
|
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 |
|
rs137854460
|
|
Marfan Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.
|
17701892 |
2007 |
|
rs137854460
|
|
Marfan Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites.
|
19349279 |
2009 |