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RASopathies

Home » RASopathies

  • RASopathies Overview
  • Syndromes
    • CFC syndrome
    • Costello syndrome
    • Legius syndrome
    • Neurofibromatosis type 1
    • Noonan syndrome
    • Noonan syndrome with multiple lentigines (NSML)/LEOPARD
  • RASopathy Clinicians Directory
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    • 2011 Symposium Abstracts
      • A Drosophila Approach to Ras Pathway Disease
      • A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling reveals a new dimension of RAS pathway dysregulation in human development
      • A role for synaptic plasticity in the cognitive deficits of Costello syndrome mice
      • Assessing Genotype-Phenotype Correlation in Costello Syndrome with the Use of a Severity Score
      • Characterisation of Costello syndrome mutations in sperm and implications for genetic counselling
      • Clinical pathways: the DYSCERNE experience
      • Epidemiological Features of Costello and CFC Syndromes
      • Epidemiological features of Costello Syndrome and Cardio-facio-cutaneous Syndrome: findings from the first nationwide survey
      • Germline K-RasV14I mutation causes Noonan Syndrome and fatal myeloproliferative disorder
      • Germline mutations of the CBL gene : a new RASopathie with predisposition to juvenile myelomonocytic leukemia (JMML)
      • Growth Hormone Signaling
      • Hematologic abnormalities associated with patients with cardio-facio-cutaneous syndrome
      • Hematopoietic differentiation abnormalities in Noonan syndrome and Noonan/JMML iPS cells
      • High-throughput drug screening to identify novel small molecules to rescue Noonan syndrome phenotypes in Drosophila
      • How Loss of Neurofibromin in Oligodendrocytes Affects the Brain
      • HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome
      • Identification of novel genes critical to survival of malignant peripheral nerve sheath tumor cells via medium throughput screening using lenti-viral shRNA
      • Induced pluripotent stem cell-derived cardiomyocytes as a model to study cardiac defects in Noonan syndrome and related disorders
      • Lovastatin, a cholesterol-lowering medication, improves cognitive deficits in children with Neurofibromatosis type 1: Phase 1 study results
      • Mechanisms underlying the cognitive deficits in animal models of rasopathies
      • MODELING RASOPATHIES WITH HIPSC
      • Molecular genetic analysis of the protein tyrosine phosphatase Shp2 (PTPN11) in the mouse telencephalon
      • MOUSE MODELS OF COSTELLO SYNDROME
      • N-myristoylation of SHOC2 and Mazzanti syndrome
      • Neurodevelopmental Profiles for RASopathies
      • Neurofibromatosis Networking – Building the Tools to Advance Research Discoveries to the Clinic
      • Noonan syndrome-associated Raf1 mutants with increased or decreased kinase activity differentially activate Erk and cause distinct syndromic phenotypes
      • NRAS mutations – a rare cause of Noonan syndrome
      • NSEuroNet – a progress report about the European database
      • Perinatal or Adult Nf1 Inactivation using Tamoxifen-inducible PlpCre Each Cause Neurofibroma Formation
      • Piebaldism with Multiple Café-au-lait Macules and Intertriginous Freckling: Evidence for a Common Pathway between KIT and SPRED1
      • Pro-hypertrophic signaling induced by the Shp2 mutation Q510E in mice
      • Progeria, aging and translational medicine: from obscurity to treatment trials and beyond
      • Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation
      • Ras Pathway Biology: Hematopoiesis and Cancer
      • Ras/MAPK Disorders: Genotype Phenotype Correlations
    • 2013 UK rasopathies symposium
    • 2015-symposium
    • 2017 International RASopathies Symposium
      • 2017 International RASopathies Symposium Agenda
      • 2017 Symposium Abstracts
      • Confirmed Speakers
    • 2019 International Symposium
      • 2019 AGENDA
      • 2019 Symposium – Confirmed Speakers
    • 2021 Symposium Home Page
      • 2021 Symposium Moderators and Speakers
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    • 2023 Symposium Home Page
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      • 2023 Symposium Speakers & Moderators
    • 4th International RASopathies Symposium
      • 2015 Sponsors and Exhibitors
      • Confirmed Speakers
    • 5th International RASopathies Symposium
      • 2015 Symposium Advisory Committees
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