|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genotype impacts survival in Marfan syndrome.
|
26787436 |
2016 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
FBN1 contributing to familial congenital diaphragmatic hernia.
|
25736269 |
2015 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.
|
25101912 |
2015 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
The revised ghent nosology; reclassifying isolated ectopia lentis.
|
24635535 |
2015 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.
|
25979247 |
2015 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.
|
26026792 |
2015 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.
|
24665001 |
2014 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.
|
24039054 |
2013 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.
|
23278365 |
2013 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.
|
23897642 |
2013 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.
|
23133647 |
2012 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
|
21683322 |
2011 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene.
|
21594992 |
2011 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.
|
21594993 |
2011 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
The revised Ghent nosology for the Marfan syndrome.
|
20591885 |
2010 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.
|
20979188 |
2010 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
|
20375004 |
2010 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.
|
17701892 |
2007 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular pathology of Shprintzen-Goldberg syndrome.
|
16333834 |
2006 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
The molecular genetics of Marfan syndrome and related disorders.
|
16571647 |
2006 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.
|
17253931 |
2006 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic basis of thoracic aortic aneurysms and aortic dissections.
|
16273536 |
2005 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.
|
15241795 |
2004 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.
|
12651868 |
2003 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.
|
14598350 |
2003 |