|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome.
|
17663468 |
2007 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
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 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory.
|
17627385 |
2007 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.
|
17679947 |
2007 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.
|
17253931 |
2006 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
The molecular genetics of Marfan syndrome and related disorders.
|
16571647 |
2006 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.
|
14695540 |
2004 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Ectopia lentis phenotypes and the FBN1 gene.
|
15054843 |
2004 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.
|
14695540 |
2004 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
|
11700157 |
2001 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
|
11700157 |
2001 |
|
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta.
|
10930463 |
2000 |
|
rs111401431
|
|
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs111588631
|
|
Marfan Syndrome
|
G |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs111929350
|
|
Marfan Syndrome
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
|
11700157 |
2001 |
|
rs111929350
|
|
Marfan Syndrome
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Molecular analysis of eight mutations in FBN1.
|
10647894 |
1999 |
|
rs111929350
|
|
Marfan Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs111929350
|
|
Marfan Syndrome
|
G |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs111984349
|
|
Marfan Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome.
|
24161884 |
2014 |
|
rs111984349
|
|
Marfan Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.
|
21542060 |
2011 |
|
rs111984349
|
|
Marfan Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
|
17657824 |
2007 |
|
rs111984349
|
|
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 |
|
rs111984349
|
|
Marfan Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.
|
16222657 |
2005 |
|
rs111984349
|
|
Marfan Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1.
|
10533071 |
1999 |
|
rs111984349
|
|
Marfan Syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders.
|
10464652 |
1999 |