Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
Marfan Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
MARFAN SYNDROME, MILD VARIABLE
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
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 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.
|
7738200 |
1995 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A new missense mutation of fibrillin in a patient with Marfan syndrome.
|
8071963 |
1994 |
Marfan Syndrome
|
|
0.800 |
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 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
|
7870075 |
1994 |
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 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
|
24882528 |
2014 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.
|
15161917 |
2004 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.
|
10441597 |
1999 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Evaluation of the adolescent or adult with some features of Marfan syndrome.
|
22237449 |
2012 |
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 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.
|
8406497 |
1993 |
Marfan Syndrome
|
|
0.800 |
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 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Guidelines for the diagnosis and management of Marfan syndrome.
|
17188935 |
2007 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Health supervision for children with Marfan syndrome. American Academy of Pediatrics Committee on Genetics.
|
8909500 |
1996 |
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 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome.
|
10425041 |
1999 |
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 |
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 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains.
|
8281141 |
1993 |
Marfan Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.
|
19941982 |
2010 |