|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
CausalMutation
|
CLINVAR |
Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.
|
25644172 |
2015 |
|
Marfan Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.
|
25644172 |
2015 |
|
Marfan Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
|
24941995 |
2014 |
|
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 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
CausalMutation
|
CLINVAR |
Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function.
|
21784848 |
2011 |
|
Marfan Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function.
|
21784848 |
2011 |
|
Marfan Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
|
19293843 |
2009 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.
|
17679947 |
2007 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation?
|
17418587 |
2007 |
|
Marfan Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation?
|
17418587 |
2007 |
|
Marfan Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.
|
17679947 |
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 |
|
Marfan Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients.
|
17503327 |
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 |
|
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 |
Fibrillin-1 misfolding and disease.
|
16677079 |
2006 |
|
Marfan Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Fibrillin-1 misfolding and disease.
|
16677079 |
2006 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
CausalMutation
|
CLINVAR |
The molecular genetics of Marfan syndrome and related disorders.
|
16571647 |
2006 |
|
Marfan Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.
|
16220557 |
2005 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.
|
16220557 |
2005 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
CausalMutation
|
CLINVAR |
Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.
|
15161917 |
2004 |
|
Marfan Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.
|
15161917 |
2004 |
|
Familial thoracic aortic aneurysm and aortic dissection
|
|
0.700 |
CausalMutation
|
CLINVAR |
Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice.
|
12161601 |
2002 |
|
Marfan Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice.
|
12161601 |
2002 |