Marfan Syndrome
|
|
0.700 |
CausalMutation
|
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
|
|
0.700 |
CausalMutation
|
CLINVAR |
Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.
|
25101912 |
2015 |
Marfan Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis.
|
23684891 |
2013 |
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
CausalMutation
|
CLINVAR |
Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis.
|
23684891 |
2013 |
Marfan Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory.
|
17627385 |
2007 |
Marfan Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.
|
17701892 |
2007 |
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
CausalMutation
|
CLINVAR |
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.
|
17701892 |
2007 |
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
CausalMutation
|
CLINVAR |
Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory.
|
17627385 |
2007 |
Marfan Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Fibrillin-1 misfolding and disease.
|
16677079 |
2006 |
Marfan Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
The molecular genetics of Marfan syndrome and related disorders.
|
16571647 |
2006 |
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
CausalMutation
|
CLINVAR |
The molecular genetics of Marfan syndrome and related disorders.
|
16571647 |
2006 |
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
CausalMutation
|
CLINVAR |
Fibrillin-1 misfolding and disease.
|
16677079 |
2006 |
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
CausalMutation
|
CLINVAR |
Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.
|
10486319 |
1999 |
Marfan Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.
|
10486319 |
1999 |
Marfan Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
The solution structure of human epidermal growth factor.
|
3495735 |
1987 |
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
CausalMutation
|
CLINVAR |
The solution structure of human epidermal growth factor.
|
3495735 |
1987 |
Marfan Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Epidermal growth factor. Location of disulfide bonds.
|
4750422 |
1973 |
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
CausalMutation
|
CLINVAR |
Epidermal growth factor. Location of disulfide bonds.
|
4750422 |
1973 |
Marfan Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|