|
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
|
17657824 |
2007 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene.
|
21907952 |
2011 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.
|
24501682 |
2013 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
|
12938084 |
2003 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
[Clinical and Genetic Characteristics of Russian Marfan Patients].
|
26410935 |
2015 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome.
|
19839986 |
2009 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis.
|
11251996 |
2001 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
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 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.
|
25101912 |
2015 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Fibrillin-1 misfolding and disease.
|
16677079 |
2006 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.
|
15161917 |
2004 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
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 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Synergistic activation of adenylate cyclase by guanylyl imidophosphate and epinephrine.
|
952872 |
1976 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.
|
25652356 |
2015 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.
|
24833718 |
2014 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.
|
16995940 |
2006 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.
|
19159394 |
2009 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.
|
10486319 |
1999 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.
|
12203992 |
2002 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Proteomic analysis in aortic media of patients with Marfan syndrome reveals increased activity of calpain 2 in aortic aneurysms.
|
19720936 |
2009 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing.
|
17884807 |
2007 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
|
19293843 |
2009 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection.
|
28973303 |
2017 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
The molecular genetics of Marfan syndrome and related disorders.
|
16571647 |
2006 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
The solution structure of human epidermal growth factor.
|
3495735 |
1987 |