|
Deformity of bone
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our findings indicated that miR-195 inhibited WT and L613V RAF-1 induced hyperactive osteoblast differentiation in MC3T3-E1 cells by targeting RAF-1. miR-195 might be a novel therapeutic agent for the treatment of L613V-induced bone deformity in Noonan syndrome.
|
29197556 |
2018 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
LEOPARD syndrome: clinical diagnosis in the first year of life.
|
16523510 |
2006 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
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
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Noonan syndrome and clinically related disorders.
|
21396583 |
2011 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.
|
23877478 |
2014 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
RAF1 mutations in childhood-onset dilated cardiomyopathy.
|
24777450 |
2014 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Growth patterns of patients with Noonan syndrome: correlation with age and genotype.
|
26903553 |
2016 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association.
|
19437094 |
2009 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.
|
22826437 |
2012 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children.
|
22389993 |
2012 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Recent advances in RASopathies.
|
26446362 |
2016 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.
|
21784453 |
2011 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1.
|
23613113 |
2013 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
|
17603483 |
2007 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
|
17603482 |
2007 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Noonan syndrome: clinical features, diagnosis, and management guidelines.
|
20876176 |
2010 |
|
LEOPARD Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
|
17603482 |
2007 |
|
LEOPARD Syndrome
|
|
0.700 |
CausalMutation
|
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 |
|
LEOPARD Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Impact of feedback phosphorylation and Raf heterodimerization on normal and mutant B-Raf signaling.
|
19933846 |
2010 |
|
LEOPARD Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
|
19953625 |
2010 |
|
LEOPARD Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
|
17603483 |
2007 |
|
LEOPARD SYNDROME 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
LEOPARD SYNDROME 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
|
17603483 |
2007 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
|
17603482 |
2007 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.
|
22826437 |
2012 |