|
rs137854480
|
|
Marfan Syndrome
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
|
30675029 |
2019 |
|
rs137854480
|
|
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 |
|
rs137854480
|
|
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 |
|
rs137854480
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
|
24882528 |
2014 |
|
rs137854480
|
|
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 |
|
rs137854480
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.
|
22772377 |
2013 |
|
rs137854480
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs137854480
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Evaluation of the adolescent or adult with some features of Marfan syndrome.
|
22237449 |
2012 |
|
rs137854480
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
|
19941982 |
2010 |
|
rs137854480
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The revised Ghent nosology for the Marfan syndrome.
|
20591885 |
2010 |
|
rs137854480
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
|
19293843 |
2009 |
|
rs137854480
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.
|
19533785 |
2009 |
|
rs137854480
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Guidelines for the diagnosis and management of Marfan syndrome.
|
17188935 |
2007 |
|
rs137854480
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
|
17657824 |
2007 |
|
rs137854480
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin.
|
18079676 |
2007 |
|
rs137854480
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.
|
16220557 |
2005 |
|
rs137854480
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.
|
16222657 |
2005 |
|
rs137854480
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.
|
14695540 |
2004 |
|
rs137854480
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Ectopia lentis phenotypes and the FBN1 gene.
|
15054843 |
2004 |
|
rs137854480
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases.
|
15184297 |
2004 |
|
rs137854480
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.
|
15161917 |
2004 |
|
rs137854480
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.
|
12203992 |
2002 |
|
rs137854480
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.
|
11826022 |
2002 |
|
rs137854480
|
|
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.
|
11826022 |
2002 |
|
rs137854480
|
|
Marfan Syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.
|
12446365 |
2002 |