×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GermlineCausalMutation
ORPHANET
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
GENOMICS_ENGLAND
×
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
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
Biomarker
MGD
Tight-skin, a new mutation of the mouse causing excessive growth of connective tissue and skeleton.
176891
1976
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
The ultrastructure of collagen in the dermis of tight-skin (Tsk) mutant mice.
7359004
1980
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
The tight-skin mouse: an animal model of inherited emphysema.
6971670
1980
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
Hereditary emphysema in the tight-skin (Tsk/+) mouse.
7271067
1981
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
Delayed-type hypersensitivity to elastase-soluble lung peptides in the tight-skin (Tsk) mouse.
6604585
1983
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
Glycosaminoglycan content in skin of the tight-skin mouse.
6847727
1983
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
Hereditary emphysema in the tight-skin mouse. Evaluation of pathogenesis.
6562869
1984
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
Mast cells and their degranulation in the Tsk mouse model of scleroderma.
4048170
1985
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
Increased collagen biosynthesis and increased expression of type I and type III procollagen genes in tight skin (TSK) mouse fibroblasts.
2416757
1986
×
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
Biomarker
CLINGEN
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.
1852208
1991
×
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
GeneticVariation
UNIPROT
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.
1852208
1991
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
Electron microscopic observations of elastic fibres in the lung and aorta of tight-skin and beta-aminopropionitrile-fed mice.
1576433
1992
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
GENOMICS_ENGLAND
Here we describe the identification of three new missense mutations in the FBN1 gene in patients with the Marfan syndrome .
1301946
1992
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
BEFREE
Members of an International Consortium for Linkage Analysis of the Marfan Syndrome (MFS1) have pooled data for joint analysis in an attempt to determine the precise location of the MFS1 gene and the order of 10 DNA markers on 15q.
1613769
1992
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
Urinary bladder function in the tight-skin mouse.
1433576
1992
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
Biomarker
MGD
Granulated metrial gland cells in the pregnant uterus of mice expressing the collagen mutation tight-skin (Tsk/+).
1617705
1992
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
UNIPROT
Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.
1569206
1992