• pathway
  • Genes that are mutated in all three of these syndromes encode proteins that function in the MAP kinase pathway. (wikipedia.org)
  • The relative severity of CFC when compared to Noonan syndrome may reflect the position in the biochemical pathway each gene occupies. (wikipedia.org)
  • The Third International Meeting on Genetic Syndromes of the Ras/MAPK Pathway: Towards a Therapeutic Approach will be held August 2-4, 2013 in Orlando, FL at the Renaissance Orlando at Seaworld. (grantome.com)
  • The overall goal of this symposium is to provide a forum for clinicians, researchers, trainees and affected families to share and discuss basic science and clinical issues in order to set forth a framework for future research, translational applications directed towards therapy and best clinical practices for Ras/MAPK pathway syndromes. (grantome.com)
  • This grant application requests support for the scientific meeting entitled, International Meeting on Genetic Syndromes of the Ras/MAPK Pathway: Finding Our Way Back to the Bedside. (grantome.com)
  • findings
  • We present here the phenotypic and genomic findings in a family with an affected female proband who carries an interstitial deletion within the 6p25.1p24.3 region, her phenotypically unaffected brother with a reciprocal interstitial duplication of the same region, and their mosaic carrier mother who carries three cell populations with the deletion, the duplication and normal cells, respectively. (springer.com)
  • features
  • High-resolution ultrasound in pregnant women with a family history of Noonan's may detect features suggestive of the syndrome. (lymphedemapeople.com)
  • When the medical world first learned about Prader-Willi syndrome in 1956, doctors had no idea what caused people to have this collection of features and problems that we now know as PWS. (lymphedemapeople.com)
  • An approximately 2.1 Mb terminal region has been reported to be responsible for some major features of the syndrome. (springer.com)
  • typically
  • Turner syndrome is not typically associated with significant developmental delay or mental retardation, although minor learning and social difficulties can occur. (psychiatryadvisor.com)
  • possible
  • Hunter A, Pinsky L. An evaluation of the possible association of malignant hyperpyrexia with the Noonan syndrome using serum creatine phosphokinase levels. (mhaus.org)
  • effect
  • To more fully assess the effect of balloon dilation of PPS associated with Williams syndrome, we reviewed our experience with this patient group. (ahajournals.org)
  • condition
  • Though an early description of the syndrome is credited to a Russian medical student, Koblinsky, at the Russian/Estonian University at Dorpat, the condition is named after an American cardiologist, Jacquline A. Noonan. (lymphedemapeople.com)