×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy.
28941062
2017
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.
22736615
2012
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.
7762551
1995
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
A Marfan syndrome gene expression phenotype in cultured skin fibroblasts.
17850668
2007
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family.
22262941
2012
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
A novel FBN1 heterozygous mutation identified in a Chinese family with autosomal dominant Marfan syndrome.
25966184
2015
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module.
8504310
1993
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis.
28098115
2019
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
A novel G to A substitution at nucleotide 1734 of the FBN1 gene predicting a C534Y mutation responsible for marfan syndrome.
10364683
1999
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome.
8884270
1996
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin.
18079676
2007
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.
22913777
2012
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
A third family cosegregates mild mitral valve prolapse syndrome with a mutation in FBN1 that can be functionally distinguished from those associated with the classic MFS phenotype.
9837823
1998
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome.
7778680
1995
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Accounting for human polymorphisms predicted to affect protein function.
11875032
2002
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Accounting for human polymorphisms predicted to affect protein function.
11875032
2002
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Although Marfan syndrome (MFS ) is known as a monogenic disorder, according to the present diagnostic criteria a mutation in the gene FBN1 is not sufficient for the diagnosis, which also depends on the presence of a number of clinical, radiological, and other findings.
17663468
2007
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Although Marfan syndrome (MFS ) is known as a monogenic disorder, according to the present diagnostic criteria a mutation in the gene FBN1 is not sufficient for the diagnosis, which also depends on the presence of a number of clinical, radiological, and other findings.
17663468
2007
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome.
21883168
2012
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome.
27112580
2016
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome.
27112580
2016
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
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
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
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
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
GeneticVariation
CLINVAR
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.
21542060
2011
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
Marfan Syndrome
1.000
CausalMutation
CLINVAR
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.
21542060
2011