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 |
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 |
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 |
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 |
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 |
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
|
24451042 |
2014 |
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 |
Pathogenesis of multiple lentigines in LEOPARD syndrome with PTPN11 gene mutation.
|
25917897 |
2015 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome.
|
20535210 |
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 |
Hypertrophic Cardiomyopathy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.
|
22585553 |
2012 |