|
rs111401431
|
|
|
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
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.
|
27437668 |
2016 |
|
rs111401431
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs111401431
|
|
|
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
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
|
24882528 |
2014 |
|
rs111401431
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs111401431
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Evaluation of the adolescent or adult with some features of Marfan syndrome.
|
22237449 |
2012 |
|
rs111401431
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The revised Ghent nosology for the Marfan syndrome.
|
20591885 |
2010 |
|
rs111401431
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
|
19941982 |
2010 |
|
rs111401431
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
|
19941982 |
2010 |
|
rs111401431
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation.
|
19863550 |
2010 |
|
rs111401431
|
|
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
|
|
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
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.
|
17679947 |
2007 |
|
rs111401431
|
|
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
|
|
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
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Guidelines for the diagnosis and management of Marfan syndrome.
|
17188935 |
2007 |
|
rs111401431
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.
|
17679947 |
2007 |
|
rs111401431
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
The molecular genetics of Marfan syndrome and related disorders.
|
16571647 |
2006 |
|
rs111401431
|
|
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
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Ectopia lentis phenotypes and the FBN1 gene.
|
15054843 |
2004 |
|
rs111401431
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.
|
14695540 |
2004 |
|
rs111401431
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.
|
14695540 |
2004 |
|
rs111401431
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases.
|
15184297 |
2004 |
|
rs111401431
|
|
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 |