Marfan Syndrome
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Tight-skin, a new mutation of the mouse causing excessive growth of connective tissue and skeleton.
|
176891 |
1976 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Synergistic activation of adenylate cyclase by guanylyl imidophosphate and epinephrine.
|
952872 |
1976 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Here we describe the identification of three new missense mutations in the FBN1 gene in patients with the Marfan syndrome.
|
1301946 |
1992 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Here we describe the identification of three new missense mutations in the FBN1 gene in patients with the Marfan syndrome.
|
1301946 |
1992 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we describe the identification of three new missense mutations in the FBN1 gene in patients with the Marfan syndrome.
|
1301946 |
1992 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Urinary bladder function in the tight-skin mouse.
|
1433576 |
1992 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Decreased collagen mRNA and regression of cardiac fibrosis in the ventricular myocardium of the tight skin mouse following thyroid hormone treatment.
|
1451140 |
1992 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.
|
1569206 |
1992 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Electron microscopic observations of elastic fibres in the lung and aorta of tight-skin and beta-aminopropionitrile-fed mice.
|
1576433 |
1992 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Lung collagen synthesis and deposition in tight-skin mice with genetic emphysema.
|
1587342 |
1992 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
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 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Granulated metrial gland cells in the pregnant uterus of mice expressing the collagen mutation tight-skin (Tsk/+).
|
1617705 |
1992 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides.
|
1631074 |
1992 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.
|
1852208 |
1991 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.
|
1852208 |
1991 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The funding crisis in biomedical research, Part I--Addressing the issue.
|
2005308 |
1991 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Increased collagen biosynthesis and increased expression of type I and type III procollagen genes in tight skin (TSK) mouse fibroblasts.
|
2416757 |
1986 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The solution structure of human epidermal growth factor.
|
3495735 |
1987 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The solution structure of human epidermal growth factor.
|
3495735 |
1987 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Mast cells and their degranulation in the Tsk mouse model of scleroderma.
|
4048170 |
1985 |
Marfan Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Epidermal growth factor. Location of disulfide bonds.
|
4750422 |
1973 |
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Epidermal growth factor. Location of disulfide bonds.
|
4750422 |
1973 |
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Hereditary emphysema in the tight-skin mouse. Evaluation of pathogenesis.
|
6562869 |
1984 |