|
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
[LEOPARD syndrome].
|
19174044 |
2009 |
|
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11.
|
19054014 |
2009 |
|
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
PTPN11 mutations in LEOPARD syndrome: report of four cases in Taiwan.
|
19864201 |
2009 |
|
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.
|
19133693 |
2009 |
|
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.
|
18849586 |
2009 |
|
LEOPARD Syndrome
|
|
0.780 |
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 |
|
LEOPARD Syndrome
|
|
0.780 |
GeneticVariation
|
BEFREE |
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 |
|
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
We report on a family with LEOPARD syndrome which was molecularly proven (p.Thr468Met in PTPN11) in a father and his adult son.
|
17935252 |
2007 |
|
LEOPARD Syndrome
|
|
0.780 |
GeneticVariation
|
BEFREE |
We report on a family with LEOPARD syndrome which was molecularly proven (p.Thr468Met in PTPN11) in a father and his adult son.
|
17935252 |
2007 |
|
LEOPARD Syndrome
|
|
0.780 |
GeneticVariation
|
BEFREE |
Furthermore, we show that the recurrent LS-causing Y279C and T468M amino acid substitutions engender loss of SHP-2 catalytic activity, identifying a previously unrecognized behavior for this class of missense PTPN11 mutations.
|
16358218 |
2006 |
|
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.
|
16377799 |
2006 |
|
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
Furthermore, we show that the recurrent LS-causing Y279C and T468M amino acid substitutions engender loss of SHP-2 catalytic activity, identifying a previously unrecognized behavior for this class of missense PTPN11 mutations.
|
16358218 |
2006 |
|
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1.
|
16638574 |
2006 |
|
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.
|
15520399 |
2004 |
|
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
|
12058348 |
2002 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Noonan syndrome with multiple lentigines with PTPN11 (T468M) gene mutation accompanied with solitary granular cell tumor.
|
28681392 |
2017 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.
|
26337637 |
2016 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome.
|
27484170 |
2016 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines.
|
27238887 |
2016 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
LEOPARD syndrome without hearing loss or pulmonary stenosis: a report of 2 cases.
|
25544017 |
2015 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Pathogenesis of multiple lentigines in LEOPARD syndrome with PTPN11 gene mutation.
|
25917897 |
2015 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain.
|
25884655 |
2015 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.
|
24767283 |
2014 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations.
|
24935154 |
2014 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
|
24451042 |
2014 |