×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Marfan Syndrome
0.500
CausalMutation
CLINVAR
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Marfan Syndrome
0.500
GeneticVariation
CLINVAR
×
Entrez Id:
4053
Gene Symbol:
LTBP2
LTBP2
Marfan Syndrome
0.410
CausalMutation
CLINVAR
×
Entrez Id:
2201
Gene Symbol:
FBN2
FBN2
Marfan Syndrome
0.200
GeneticVariation
CLINVAR
×
Entrez Id:
7046
Gene Symbol:
TGFBR1
TGFBR1
Marfan Syndrome
0.200
CausalMutation
CLINVAR
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Marfan Syndrome
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Synergistic activation of adenylate cyclase by guanylyl imidophosphate and epinephrine.
952872
1976
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides.
1631074
1992
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
The funding crisis in biomedical research, Part I--Addressing the issue.
2005308
1991
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
The solution structure of human epidermal growth factor.
3495735
1987
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
The solution structure of human epidermal growth factor.
3495735
1987
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Epidermal growth factor. Location of disulfide bonds.
4750422
1973
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Epidermal growth factor. Location of disulfide bonds.
4750422
1973
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.
7611299
1995
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.
7762551
1995
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome.
7778680
1995
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
The calcium binding properties and molecular organization of epidermal growth factor-like domains in human fibrillin-1.
7896820
1995
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques.
7911051
1994
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
We describe here the identification of defined mutations in both alleles of the fibrillin gene (FBN1 ) in a compound-heterozygote Marfan syndrome (MFS ) child who had a very severe form of MFS resulting in death from cardiac failure at the age of 4 mo.
7977366
1994
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
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
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Interestingly, the neonatal MFS mutations are clustered in one particular region of FBN1 , possibly providing new insights into genotype-phenotype comparisons.
8136837
1994
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome .
8406497
1993
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module.
8504310
1993
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Characterisation of four novel fibrillin-1 (FBN1 ) mutations in Marfan syndrome .
8863159
1996
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome.
8884270
1996