Condition: Metachondromatosis


rs28933386 in PTPN11 gene and Metachondromatosis PMID 26785492 2015 De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

PMID 21567923 2011 Lethal presentation of neurofibromatosis and Noonan syndrome.

PMID 25912702 2015 [Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].

PMID 28650561 2017 Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.

PMID 20308328 2010 Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling.

PMID 28957739 2018 Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing.

PMID 16399795 2006 Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations.

PMID 24803665 2014 Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

PMID 18253957 2008 Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation.

PMID 24628801 2014 Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11).

PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

PMID 14974085 2004 Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation.

PMID 23726368 2013 Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection.

PMID 19509418 2009 Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia.

PMID 15987685 2005 Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.

PMID 27521173 2016 Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

PMID 21340158 2010 Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?

PMID 28483241 2017 Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.

PMID 21407260 2011 Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

PMID 21533187 2011 Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

PMID 20577567 2010 Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.