Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity.
|
21910245 |
2011 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Delayed primary diagnosis of LEOPARD syndrome type 1.
|
23317994 |
2013 |
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 |
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.
|
24767283 |
2014 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.
|
24775816 |
2013 |
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 |
Biomarker
|
disease |
BEFREE |
The scope of cardiac disease in Noonan syndrome is quite variable depending on the gene mutation, with some mutations usually associated with a high incidence of congenital heart defects (PTPN11, KRAS, and others) while those with predominantly hypertrophic cardiomyopathy (HCM) have higher risk and morbidity profiles (RAF1, RIT1, and those associated with multiple lentigines).
|
30024444 |
2018 |
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 |
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 |
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 |
A novel PTPN11 mutation in LEOPARD syndrome.
|
14961557 |
2003 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
LEOPARD syndrome without hearing loss or pulmonary stenosis: a report of 2 cases.
|
25544017 |
2015 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines.
|
27238887 |
2016 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Noonan syndrome with multiple lentigines with PTPN11 (T468M) gene mutation accompanied with solitary granular cell tumor.
|
28681392 |
2017 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria.
|
21365175 |
2011 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.
|
22555271 |
2012 |
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 |
PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain.
|
25884655 |
2015 |
Hypertrophic Cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a Japanese female infant with NS carrying the PTPN11 T73I mutation with NS/MPD, complete atrio-ventricular septal defect, and rapidly progressive HCM.
|
26286251 |
2015 |
Hypertrophic Cardiomyopathy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In this issue of the JCI, Wu et al. and Marin et al. describe two new mouse models of inherited disorders of the RAS/MAPK signal transduction pathway that display hypertrophic cardiomyopathy (HCM); the model from the former paper was from a gain-of-function Raf1 mutation, and the model from the latter paper was from a protein tyrosine phosphatase, non-receptor type 11 (Ptpn11) mutated allele encoding Shp2 with impaired catalytic function.
|
21339640 |
2011 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations.
|
24935154 |
2014 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Tegumentary manifestations of Noonan and Noonan-related syndromes.
|
24037001 |
2013 |
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 |
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.
|
26337637 |
2016 |
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 |