rs137854467
|
|
|
0.810 |
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 |
rs137854467
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
rs137854467
|
|
|
0.810 |
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 |
rs137854467
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
|
24882528 |
2014 |
rs137854467
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.
|
22772377 |
2013 |
rs137854467
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
rs137854467
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Evaluation of the adolescent or adult with some features of Marfan syndrome.
|
22237449 |
2012 |
rs137854467
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
The revised Ghent nosology for the Marfan syndrome.
|
20591885 |
2010 |
rs137854467
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
|
19941982 |
2010 |
rs137854467
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.
|
19533785 |
2009 |
rs137854467
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Correlation of the recurrent FBN1 mutation (c.364C>T) with a unique phenotype in a Chinese patient with Marfan syndrome.
|
19089573 |
2009 |
rs137854467
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
|
17657824 |
2007 |
rs137854467
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Guidelines for the diagnosis and management of Marfan syndrome.
|
17188935 |
2007 |
rs137854467
|
|
|
0.810 |
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 |
rs137854467
|
|
|
0.810 |
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 |
rs137854467
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases.
|
15184297 |
2004 |
rs137854467
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.
|
15161917 |
2004 |
rs137854467
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.
|
12203992 |
2002 |
rs137854467
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.
|
11826022 |
2002 |
rs137854467
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
|
11700157 |
2001 |
rs137854467
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome.
|
10425041 |
1999 |
rs137854467
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.
|
10441597 |
1999 |
rs137854467
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype.
|
9254848 |
1997 |
rs137854467
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Health supervision for children with Marfan syndrome. American Academy of Pediatrics Committee on Genetics.
|
8909500 |
1996 |
rs137854467
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.
|
7738200 |
1995 |