Hypertrophic Cardiomyopathy
|
0.400 |
Biomarker
|
disease |
MGD |
|
|
|
Hypertrophic Cardiomyopathy
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
Hypertrophic Cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genotype-phenotype analysis revealed that pulmonic stenosis was more prevalent among the group of subjects with NS who had PTPN11 mutations than it was in the group without them (70.6% vs. 46.2%; P<.01), whereas hypertrophic cardiomyopathy was less prevalent among those with PTPN11 mutations (5.9% vs. 26.2%; P<.005).
|
11992261 |
2002 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
|
12058348 |
2002 |
Hypertrophic Cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Six of eight subjects with PTPN11/SHP2 mutations had pulmonary valve stenosis while no mutations were identified in those subjects (N = 4) with hypertrophic cardiomyopathy.
|
12325025 |
2002 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
A novel PTPN11 mutation in LEOPARD syndrome.
|
14961557 |
2003 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.
|
15121796 |
2004 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.
|
15520399 |
2004 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
High incidence of malformation syndromes in a series of 1,073 children with cancer.
|
15712196 |
2005 |
Hypertrophic Cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy.
|
15889278 |
2005 |
Hypertrophic Cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
PTPN11 missense mutations cause approximately 50% of Noonan syndrome, an autosomal dominant disorder presenting with various congenital heart defects, most commonly valvar pulmonary stenosis, and hypertrophic cardiomyopathy.
|
15940693 |
2005 |
Hypertrophic Cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic evaluation in LS patients suggests that a hypertrophic cardiomyopathy rather than an electrocardiographic conduction abnormality is characteristic of PTPN11 mutation positive patients.
|
16208280 |
2005 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
|
16358218 |
2006 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.
|
16377799 |
2006 |
Hypertrophic Cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our data suggests that mutations in the PTPN11 gene are not a cause of HCM in the absence of Noonan/LEOPARD syndromes.
|
16488201 |
2006 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1.
|
16638574 |
2006 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
LEOPARD syndrome with partly normal skin and sex chromosome mosaicism.
|
17935252 |
2007 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
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 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.
|
18849586 |
2009 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.
|
19133693 |
2009 |
Hypertrophic Cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The findings confirm the intriguing relationship between site-specific mutations of the PTPN11 gene and rapidly progressive HCM.
|
19582499 |
2009 |
Hypertrophic Cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
No reports exist regarding PTPN11 mutations in association with both aortic dilation and hypertrophic cardiomyopathy.
|
19795160 |
2010 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
The Marshall M. Parks memorial lecture: making sense of early-onset childhood retinal dystrophies--the clinical phenotype of Leber congenital amaurosis.
|
19825837 |
2010 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
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 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Phosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesis.
|
20493809 |
2010 |