×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
[Two gene mutations in fibrillin 1 of Marfan syndrome].
17680538
2007
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Familial thoracic aortic aneurysm and aortic dissection
0.600
CausalMutation
CLINVAR
[Two gene mutations in fibrillin 1 of Marfan syndrome].
17680538
2007
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
[Novel mutation of fibrillin 1 gene cause ectopia lentis in a Chinese family].
15733436
2004
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Familial thoracic aortic aneurysm and aortic dissection
0.600
CausalMutation
CLINVAR
[Novel mutation of fibrillin 1 gene cause ectopia lentis in a Chinese family].
15733436
2004
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
[Clinical and Genetic Characteristics of Russian Marfan Patients].
26410935
2015
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Familial thoracic aortic aneurysm and aortic dissection
0.600
GeneticVariation
CLINVAR
[Clinical and Genetic Characteristics of Russian Marfan Patients].
26410935
2015
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD.
26272055
2015
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Familial thoracic aortic aneurysm and aortic dissection
0.600
CausalMutation
CLINVAR
Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD.
26272055
2015
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.
24501682
2013
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Familial thoracic aortic aneurysm and aortic dissection
0.600
GeneticVariation
CLINVAR
Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.
24501682
2013
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases.
17224687
2007
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases.
17224687
2007
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Familial thoracic aortic aneurysm and aortic dissection
0.600
GeneticVariation
CLINVAR
Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases.
17224687
2007
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Familial thoracic aortic aneurysm and aortic dissection
0.600
CausalMutation
CLINVAR
Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases.
17224687
2007
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
We show that substitutions in fibrillin-1 domains TB4 and TB5 that cause SSS and the acromelic dysplasias do not prevent fibrillin-1 from being secreted or assembled into microfibrils, whereas MFS -associated substitutions in these domains result in a loss of recombinant protein in the culture medium and no association with microfibrils.
25979247
2015
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
We recommend that echocardiogram, ocular examination and FBN1 molecular testing be considered for any patients with possible MFS even in the absence of skeletal features, including Hispanic patients.
19941982
2010
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
We recommend that echocardiogram, ocular examination and FBN1 molecular testing be considered for any patients with possible MFS even in the absence of skeletal features, including Hispanic patients.
19941982
2010
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
We describe the FBN1 genotypes and related phenotypes of 81 patients who were referred to our attention for MFS or Marfan-like phenotypes.
16222657
2005
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
We describe the FBN1 genotypes and related phenotypes of 81 patients who were referred to our attention for MFS or Marfan-like phenotypes.
16222657
2005
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
We describe here the identification of defined mutations in both alleles of the fibrillin gene (FBN1 ) in a compound-heterozygote Marfan syndrome (MFS ) child who had a very severe form of MFS resulting in death from cardiac failure at the age of 4 mo.
7977366
1994
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome.
17718856
2007
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Familial thoracic aortic aneurysm and aortic dissection
0.600
CausalMutation
CLINVAR
Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome.
17718856
2007
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
GELEOPHYSIC DYSPLASIA 2
0.610
CausalMutation
CLINVAR
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.
26380986
2015
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
12938084
2003
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
12938084
2003