Leopard Syndrome 1
|
|
0.800 |
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.
|
24891296 |
2014 |
Leopard Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive).
|
16679933 |
2006 |
Leopard Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
"PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""."
|
16733669 |
2006 |
Leopard Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.
|
15690106 |
2005 |
Leopard Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome.
|
15389709 |
2004 |
Leopard Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.
|
15520399 |
2004 |
Leopard Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.
|
15121796 |
2004 |
Leopard Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel PTPN11 mutation in LEOPARD syndrome.
|
14961557 |
2003 |
Leopard Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
|
12058348 |
2002 |
Leopard Syndrome 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
|
29493581 |
2018 |
LEOPARD Syndrome
|
|
0.780 |
GeneticVariation
|
BEFREE |
The present study reports a young child diagnosed with LS via identification of a common p.Thr468Met mutation in PTPN11.
|
27484170 |
2016 |
LEOPARD Syndrome
|
|
0.780 |
GeneticVariation
|
BEFREE |
We report a patient with Noonan syndrome with multiple lentigines (NSML) due to a PTPN11 (p.Thr468Met) mutation associated with hypertrophic neuropathy of lumbar plexus in an adult woman, initially referred for neuropathic pain.
|
26952712 |
2016 |
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain.
|
25884655 |
2015 |
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations.
|
24935154 |
2014 |
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
A new examination of the patient and his similarly affected father, who was initially referred as healthy, led us to suspect LEOPARD syndrome, The diagnosis was then confirmed by the occurrence in both patients of a heterozygous mutation c.1403 C > T, p.(Thr468Met), of PTPN11.
|
24767283 |
2014 |
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.
|
23813970 |
2013 |
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
Here we present a patient with severe, progressive neonatal HCM, elevated urinary catecholamine metabolites, and dysmorphic features in whom we identified a known LEOPARD syndrome-associated PTPN11 mutation (c.1403 C > T; p.T468M) and a novel, potentially pathogenic missense SOS1 variant (c.1018 C > T; p.P340S) replacing a rigid nonpolar imino acid with a polar amino acid at a highly conserved position.
|
22585553 |
2012 |
LEOPARD Syndrome
|
|
0.780 |
GeneticVariation
|
BEFREE |
Here we present a patient with severe, progressive neonatal HCM, elevated urinary catecholamine metabolites, and dysmorphic features in whom we identified a known LEOPARD syndrome-associated PTPN11 mutation (c.1403 C > T; p.T468M) and a novel, potentially pathogenic missense SOS1 variant (c.1018 C > T; p.P340S) replacing a rigid nonpolar imino acid with a polar amino acid at a highly conserved position.
|
22585553 |
2012 |
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.
|
22555271 |
2012 |
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?
|
22681964 |
2011 |
LEOPARD Syndrome
|
|
0.780 |
GeneticVariation
|
BEFREE |
LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria.
|
21365175 |
2011 |
LEOPARD Syndrome
|
|
0.780 |
GeneticVariation
|
BEFREE |
Direct sequencing of the patients' genomic DNA revealed that all three had a consistent missense mutation [c.1403C > T (p.T468M)] in the PTPN11 gene, confirming LEOPARD syndrome with an atypical phenotype.
|
20883402 |
2010 |
LEOPARD Syndrome
|
|
0.780 |
CausalMutation
|
CLINVAR |
Direct sequencing of the patients' genomic DNA revealed that all three had a consistent missense mutation [c.1403C > T (p.T468M)] in the PTPN11 gene, confirming LEOPARD syndrome with an atypical phenotype.
|
20883402 |
2010 |