|
rs104894230
|
|
Costello syndrome (disorder)
|
G |
0.840 |
CausalMutation
|
CLINVAR |
In addition, a fatal course of CS was present in one patient with the p.G12A mutation and in another with p.G12S, there was a co-occurrence of Turner syndrome because of the distal Xp deletion.
|
28027064 |
2017 |
|
rs104894230
|
|
Costello syndrome (disorder)
|
G |
0.840 |
CausalMutation
|
CLINVAR |
We identified an unusual, new germline p.Gly12Val mutation, c.35_36GC>TG, in a 12-year-old boy with attenuated CS.
|
27195699 |
2016 |
|
rs104894230
|
|
Costello syndrome (disorder)
|
G |
0.840 |
CausalMutation
|
CLINVAR |
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.
|
27589201 |
2016 |
|
rs104894230
|
|
Costello syndrome (disorder)
|
G |
0.840 |
CausalMutation
|
CLINVAR |
HRAS mutations in bladder cancer at an early age and the possible association with the Costello Syndrome.
|
24169525 |
2014 |
|
rs104894230
|
|
Costello syndrome (disorder)
|
G |
0.840 |
CausalMutation
|
CLINVAR |
Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome.
|
24224811 |
2013 |
|
rs104894230
|
|
Costello syndrome (disorder)
|
T |
0.840 |
CausalMutation
|
CLINVAR |
Excess of neuromuscular spindles in a fetus with Costello syndrome: a clinicopathological report.
|
20658932 |
2011 |
|
rs104894230
|
|
Costello syndrome (disorder)
|
G |
0.840 |
CausalMutation
|
CLINVAR |
In the current study, we identified four mutations (p.G12S, p.G12A, p.G12C and p.G12D) in 21 patients and analyzed the associated clinical manifestations of CS in these individuals.
|
21850009 |
2011 |
|
rs104894230
|
|
Costello syndrome (disorder)
|
T |
0.840 |
CausalMutation
|
CLINVAR |
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.
|
21344638 |
2011 |
|
rs104894230
|
|
Costello syndrome (disorder)
|
T |
0.840 |
CausalMutation
|
CLINVAR |
Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D.
|
18642361 |
2009 |
|
rs104894230
|
|
Costello syndrome (disorder)
|
G |
0.840 |
CausalMutation
|
CLINVAR |
We report a patient with typical Costello syndrome and a novel heterozygous missense mutation in codon 117 (c.350A>G, p.Lys117Arg) of the HRAS gene, resulting in constitutive activation of the RAS/MAPK pathway similar to the typical p.Gly12Ser and p.Gly12Ala mutations.
|
17979197 |
2008 |
|
rs104894230
|
|
Costello syndrome (disorder)
|
T |
0.840 |
CausalMutation
|
CLINVAR |
Severe neonatal manifestations of Costello syndrome.
|
18039947 |
2008 |
|
rs104894230
|
|
Costello syndrome (disorder)
|
T |
0.840 |
CausalMutation
|
CLINVAR |
We report a patient with typical Costello syndrome and a novel heterozygous missense mutation in codon 117 (c.350A>G, p.Lys117Arg) of the HRAS gene, resulting in constitutive activation of the RAS/MAPK pathway similar to the typical p.Gly12Ser and p.Gly12Ala mutations.
|
17979197 |
2008 |
|
rs104894230
|
|
Costello syndrome (disorder)
|
T |
0.840 |
CausalMutation
|
CLINVAR |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |
|
rs104894230
|
|
Costello syndrome (disorder)
|
A |
0.840 |
CausalMutation
|
CLINVAR |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |
|
rs104894230
|
|
Costello syndrome (disorder)
|
G |
0.840 |
CausalMutation
|
CLINVAR |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |
|
rs104894230
|
|
Costello syndrome (disorder)
|
T |
0.840 |
CausalMutation
|
CLINVAR |
Carcinogen-induced mutations in the mouse c-Ha-ras gene provide evidence of multiple pathways for tumor progression.
|
2105486 |
1990 |