Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Recent advances in RASopathies.
|
26446362 |
2016 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Growth patterns of patients with Noonan syndrome: correlation with age and genotype.
|
26903553 |
2016 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Growth patterns of patients with Noonan syndrome: correlation with age and genotype.
|
26903553 |
2016 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Recent advances in RASopathies.
|
26446362 |
2016 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.
|
23877478 |
2014 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
RAF1 mutations in childhood-onset dilated cardiomyopathy.
|
24777450 |
2014 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.
|
23877478 |
2014 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
RAF1 mutations in childhood-onset dilated cardiomyopathy.
|
24777450 |
2014 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1.
|
23613113 |
2013 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1.
|
23613113 |
2013 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.
|
22826437 |
2012 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children.
|
22389993 |
2012 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.
|
22826437 |
2012 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children.
|
22389993 |
2012 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.
|
21784453 |
2011 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.
|
21784453 |
2011 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Noonan syndrome and clinically related disorders.
|
21396583 |
2011 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Noonan syndrome and clinically related disorders.
|
21396583 |
2011 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Noonan syndrome: clinical features, diagnosis, and management guidelines.
|
20876176 |
2010 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
|
20052757 |
2010 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
|
20052757 |
2010 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Noonan syndrome: clinical features, diagnosis, and management guidelines.
|
20876176 |
2010 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association.
|
19437094 |
2009 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association.
|
19437094 |
2009 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
|
17603483 |
2007 |