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Connective Tissue Diseases
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0.200 |
GeneticVariation
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group |
BEFREE |
Marfan syndrome (MFS) is an inherited connective tissue disease that mainly involves Fibrillin-1 (FBN1) mutations and aortic manifestations.
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31830381 |
2020 |
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Connective Tissue Diseases
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0.200 |
GeneticVariation
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group |
BEFREE |
FBN1 gene mutations lead to MFS and related connective tissue disorders.
|
31163209 |
2019 |
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Connective Tissue Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Marfan syndrome (MS) is a systemic connective tissue disorder caused by mutation in the extracellular matrix protein fibrillin 1.
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30685343 |
2019 |
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Connective Tissue Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in fibrillin-1 (Fbn1).
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31125551 |
2019 |
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Connective Tissue Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Marfan syndrome (MS), a connective tissue disorder that affects ocular, skeletal, and cardiovascular systems, is caused by heterozygous pathogenic variants in FBN1.
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30048161 |
2018 |
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Connective Tissue Diseases
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0.200 |
GeneticVariation
|
group |
BEFREE |
Marfan syndrome (MFS) is a rare autosomal dominant connective tissue disorder related to variants in the FBN1 gene.
|
30087447 |
2018 |
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Connective Tissue Diseases
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0.200 |
Biomarker
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group |
BEFREE |
These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana.
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29760442 |
2018 |
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Connective Tissue Diseases
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0.200 |
GeneticVariation
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group |
BEFREE |
Understanding how structural changes induced by fibrillin-1 mutation impact the architecture of fibrillin microfibrils, which then translates into an altered activation state of targeted growth factors, represents a huge challenge in elucidating the genotype-phenotype correlations in connective tissue disorders such as Marfan syndrome.
|
27956365 |
2017 |
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Connective Tissue Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Marfan syndrome (MFS) is an autosomal-dominant connective tissue disorder usually associated with heterozygous mutations in the gene encoding fibrillin-1 (FBN1).
|
27582083 |
2017 |
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Connective Tissue Diseases
|
0.200 |
GeneticVariation
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group |
BEFREE |
FBN1 variants are responsible for the related connective tissue disorders, grouped under the generic term of type-1 fibrillinopathies, which include Marfan syndrome (MFS), MASS syndrome (Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings, Acromicric dysplasia, Familial ectopia lentis, Geleophysic dysplasia 2, Stiff skin syndrome, and dominant Weill-Marchesani syndrome.
|
26875674 |
2016 |
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Connective Tissue Diseases
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0.200 |
Biomarker
|
group |
BEFREE |
Pathogenic mutations in FBN1, encoding the glycoprotein, fibrillin-1, cause Marfan syndrome (MFS) and related connective tissue disorders.
|
26684006 |
2015 |
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Connective Tissue Diseases
|
0.200 |
GeneticVariation
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group |
BEFREE |
Marfan syndrome (MFS) is an inherited connective tissue disorder mainly caused by the fibrillin-1 mutation.
|
23428920 |
2013 |
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Connective Tissue Diseases
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0.200 |
GeneticVariation
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Our findings expand the number of large FBN1 deletions, and emphasize the importance of screening for large genomic deletions in connective tissue disorders featuring aortopathies, especially for those with classic Marfan phenotype.
|
21936929 |
2011 |
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Connective Tissue Diseases
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0.200 |
GeneticVariation
|
group |
BEFREE |
Marfan syndrome is a inherited connective tissue disorder due to mutations in fibrillin-1.
|
19879983 |
2010 |
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Connective Tissue Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Marfan syndrome is a connective-tissue disease inherited in an autosomal dominant manner and caused mainly by mutations in the gene FBN1.
|
20351703 |
2010 |
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Connective Tissue Diseases
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0.200 |
GeneticVariation
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BEFREE |
In this issue of Science Translational Medicine, a report by Loeys et al. on mutations in the fibrillin-1 gene in patients with skin fibrosis (stiff skin) adds a new piece of information on a connective tissue disorder that resembles systemic sclerosis, an autoimmune disease characterized by skin fibrosis and visceral organ involvement.
|
20375002 |
2010 |
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Connective Tissue Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the FBN1 gene, encoding the extracellular matrix protein fibrillin-1, result in the dominant connective tissue disease Marfan syndrome.
|
19573590 |
2009 |
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Connective Tissue Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the gene encoding fibrillin 1 (FBN1) cause Marfan syndrome (MFS), and related connective tissue disorders.
|
19161152 |
2009 |
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Connective Tissue Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the fibrillin-1 (FBN1) gene have been identified in patients with Marfan syndrome (MFS) and Marfan-like connective tissue disorders.
|
18471089 |
2008 |
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Connective Tissue Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Fibrillin-1 gene (FBN1) mutations cause Marfan syndrome (MFS), an inherited connective tissue disorder with autosomal dominant transmission.
|
18435798 |
2008 |
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Connective Tissue Diseases
|
0.200 |
GeneticVariation
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group |
BEFREE |
Marfan syndrome (MFS) is known as an autosomal-dominant connective tissue disorder (MIM 154,700), involving primarily the skeletal, ocular and cardiovascular systems, and caused by mutations in the gene for fibrillin1 (FBN1).
|
17568394 |
2007 |
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Connective Tissue Diseases
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0.200 |
GeneticVariation
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group |
BEFREE |
Mutations in the human FBN1 gene are known to be associated with the Marfan syndrome, an autosomal dominant inherited multi-systemic connective tissue disorder.
|
16061422 |
2006 |
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Connective Tissue Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Marfan syndrome (MFS) is an autosomal dominant inherited connective tissue disorder caused by mutations in the fibrillin-1 (FBN1) gene with variable clinical manifestations in the cardiovascular, musculoskeletal and ocular systems.
|
16342915 |
2005 |
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Connective Tissue Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the fibrillin-1 gene (FBN1) cause Marfan syndrome and related connective tissue disorders (fibrillinopathies) that show autosomal dominant inheritance.
|
12651868 |
2003 |
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Connective Tissue Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the human fibrillin 1 gene (FBN1) cause the Marfan syndrome (MFS), an autosomal dominant connective tissue disorder.
|
11933199 |
2002 |