rs111401431
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.
|
27437668 |
2016 |
rs111401431
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
rs111401431
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
|
24882528 |
2014 |
rs111401431
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).
|
25173340 |
2014 |
rs111401431
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
rs111401431
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Evaluation of the adolescent or adult with some features of Marfan syndrome.
|
22237449 |
2012 |
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation.
|
19863550 |
2010 |
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
|
19941982 |
2010 |
rs111401431
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The revised Ghent nosology for the Marfan syndrome.
|
20591885 |
2010 |
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
|
19941982 |
2010 |
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
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 |
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome.
|
17663468 |
2007 |
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.
|
17679947 |
2007 |
rs111401431
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Guidelines for the diagnosis and management of Marfan syndrome.
|
17188935 |
2007 |
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
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 |
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome.
|
17663468 |
2007 |
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.
|
17679947 |
2007 |
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
The molecular genetics of Marfan syndrome and related disorders.
|
16571647 |
2006 |
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.
|
17253931 |
2006 |
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.
|
14695540 |
2004 |
rs111401431
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases.
|
15184297 |
2004 |
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.
|
14695540 |
2004 |
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Ectopia lentis phenotypes and the FBN1 gene.
|
15054843 |
2004 |
rs111401431
|
|
Marfan Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
|
11700157 |
2001 |