|
Metachondromatosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing.
|
28957739 |
2018 |
|
Metachondromatosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.
|
28483241 |
2017 |
|
Metachondromatosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
|
28650561 |
2017 |
|
Metachondromatosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.
|
27521173 |
2016 |
|
Metachondromatosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.
|
26785492 |
2015 |
|
Metachondromatosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].
|
25912702 |
2015 |
|
Metachondromatosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
|
24803665 |
2014 |
|
Metachondromatosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11).
|
24628801 |
2014 |
|
Metachondromatosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection.
|
23726368 |
2013 |
|
Metachondromatosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
|
21407260 |
2011 |
|
Metachondromatosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Lethal presentation of neurofibromatosis and Noonan syndrome.
|
21567923 |
2011 |
|
Metachondromatosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling.
|
20308328 |
2010 |
|
Metachondromatosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?
|
21340158 |
2010 |
|
Metachondromatosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia.
|
19509418 |
2009 |
|
Metachondromatosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation.
|
18253957 |
2008 |
|
Metachondromatosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations.
|
16399795 |
2006 |
|
Metachondromatosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.
|
15987685 |
2005 |
|
Metachondromatosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation.
|
14974085 |
2004 |
|
Metachondromatosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
|
11704759 |
2001 |