|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
|
12058348 |
2002 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A novel PTPN11 mutation in LEOPARD syndrome.
|
14961557 |
2003 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.
|
15121796 |
2004 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.
|
15520399 |
2004 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
High incidence of malformation syndromes in a series of 1,073 children with cancer.
|
15712196 |
2005 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
|
16358218 |
2006 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.
|
16377799 |
2006 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1.
|
16638574 |
2006 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
LEOPARD syndrome with partly normal skin and sex chromosome mosaicism.
|
17935252 |
2007 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
|
18372317 |
2008 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.
|
18849586 |
2009 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.
|
19133693 |
2009 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
The Marshall M. Parks memorial lecture: making sense of early-onset childhood retinal dystrophies--the clinical phenotype of Leber congenital amaurosis.
|
19825837 |
2010 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome.
|
20535210 |
2010 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Phosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesis.
|
20493809 |
2010 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling.
|
20308328 |
2010 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome).
|
20883402 |
2010 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity.
|
21910245 |
2011 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria.
|
21365175 |
2011 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?
|
22681964 |
2011 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
RASopathies: Clinical Diagnosis in the First Year of Life.
|
22190897 |
2011 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Reactive oxygen species and epidermal growth factor are antagonistic cues controlling SHP-2 dimerization.
|
22411627 |
2012 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.
|
22585553 |
2012 |
|
rs121918457
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Here we present a patient with severe, progressive neonatal HCM, elevated urinary catecholamine metabolites, and dysmorphic features in whom we identified a known LEOPARD syndrome-associated PTPN11 mutation (c.1403 C > T; p.T468M) and a novel, potentially pathogenic missense SOS1 variant (c.1018 C > T; p.P340S) replacing a rigid nonpolar imino acid with a polar amino acid at a highly conserved position.
|
22585553 |
2012 |
|
rs121918457
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.
|
22555271 |
2012 |