rs193922219
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
T
0.700
CausalMutation
CLINVAR
Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations.
12402346
2002
rs193922219
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
T
0.700
CausalMutation
CLINVAR
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
17657824
2007
rs193922219
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
T
0.700
CausalMutation
CLINVAR
Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome.
24161884
2014
rs193922219
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
T
0.700
CausalMutation
CLINVAR
Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.
16835936
2006
rs193922219
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
T
0.700
CausalMutation
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
rs193922219
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
T
0.700
CausalMutation
CLINVAR
Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome.
17663468
2007
rs193922219
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
T
0.700
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
rs193922219
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
T
0.700
CausalMutation
CLINVAR
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.
14695540
2004
rs193922219
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
T
0.700
CausalMutation
CLINVAR
Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1.
10533071
1999
rs193922219
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
T
0.700
CausalMutation
CLINVAR
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
19293843
2009
rs193922219
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
T
0.700
GeneticVariation
CLINVAR
rs193922219
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
T
0.700
CausalMutation
CLINVAR
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.
7611299
1995
rs193922219
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
T
0.700
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
rs193922219
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
T
0.700
CausalMutation
CLINVAR
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.
21542060
2011