|
Leopard Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.
|
26742426 |
2016 |
|
Leopard Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.
|
24891296 |
2014 |
|
Leopard Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
"PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""."
|
16733669 |
2006 |
|
Leopard Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive).
|
16679933 |
2006 |
|
Leopard Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.
|
15690106 |
2005 |
|
Leopard Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.
|
15121796 |
2004 |
|
Leopard Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.
|
15520399 |
2004 |
|
Leopard Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome.
|
15389709 |
2004 |
|
Leopard Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel PTPN11 mutation in LEOPARD syndrome.
|
14961557 |
2003 |
|
Leopard Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
|
12058348 |
2002 |
|
LEOPARD Syndrome
|
|
0.020 |
GeneticVariation
|
BEFREE |
A human induced pluripotent stem cell (iPSC) line was generated using peripheral blood mononuclear cells (PBMCs) from a patient with NSML that carries a gene mutation of p.Q510P on the PTPN11 gene using non-integrating Sendai virus technique.
|
30640061 |
2019 |
|
LEOPARD Syndrome
|
|
0.020 |
GeneticVariation
|
BEFREE |
Comparing our patient to the literature suggests that specific mutations at codon 510 in PTPN11 (Gln510Glu, Gln510His, but not Gln510Pro) might be a predictor of fatal cardiac events in LS.
|
21910226 |
2011 |
|
Multiple lentigines
|
|
0.010 |
GeneticVariation
|
BEFREE |
We report on a 26-year-old female with features of Noonan syndrome-Multiple Lentigines and a heterozygous mutation: c.1517A > C-p.Gln506Pro in the PTPN11 gene.
|
22528600 |
2012 |
|
Noonan Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
We report on a 26-year-old female with features of Noonan syndrome-Multiple Lentigines and a heterozygous mutation: c.1517A > C-p.Gln506Pro in the PTPN11 gene.
|
22528600 |
2012 |
|
Hyperactive behavior
|
|
0.010 |
GeneticVariation
|
BEFREE |
Gln506Pro is predicted, by modeling analysis, to seriously disrupt the normal contacts between the regulating N-SH2 and the active PTP domains, leading to hyperactivity of the phosphatase.
|
14961557 |
2003 |