|
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 |
Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive).
|
16679933 |
2006 |
|
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 |
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 |
A novel PTPN11 mutation in LEOPARD syndrome.
|
14961557 |
2003 |
|
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 |
Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.
|
15690106 |
2005 |
|
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 |
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.
|
15121796 |
2004 |
|
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 |
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 |
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 |
LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria.
|
21365175 |
2011 |
|
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 |
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 |
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 |
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 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
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 |
|
Neurofibromatosis 1
|
|
0.010 |
GeneticVariation
|
BEFREE |
LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria.
|
21365175 |
2011 |
|
Medulloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We present a patient with NSML caused by the recurrent PTPN11 mutation c.1403C > T (p.Thr468Met) in whom medulloblastoma was diagnosed at age 10 years.
|
23813970 |
2013 |
|
Neuropathy
|
|
0.010 |
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 |
|
Adult Medulloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We present a patient with NSML caused by the recurrent PTPN11 mutation c.1403C > T (p.Thr468Met) in whom medulloblastoma was diagnosed at age 10 years.
|
23813970 |
2013 |
|
Childhood Medulloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We present a patient with NSML caused by the recurrent PTPN11 mutation c.1403C > T (p.Thr468Met) in whom medulloblastoma was diagnosed at age 10 years.
|
23813970 |
2013 |
|
Neuralgia
|
|
0.010 |
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 |