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Noonan and Ras/Mapk Pathway Syndromes

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  • Allanson, J. E., Hall, J. G., Hughes, H. E., Preus, M., & Witt, R. D. (1985). Noonan syndrome: The changing phenotype. American Journal of Medical Genetics, 21(3), 507–514.

    Article  Google Scholar 

  • Cesarini, L., Alfieri, A., Pantaleoni, F., Vasta, I., Cerutti, M., Petrangeli, V., et al. (2009). Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade. American Journal of Medical Genetics Part A, 149A(2), 165–170.

    Article  Google Scholar 

  • Ghaziuddin, M., Bolyard, B., & Alessi, N. (1994). Autistic disorder in noonan syndrome. Journal of Intellectual Disability Research, 38(Pt 1), 67–72.

    PubMed  Google Scholar 

  • Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin, M., Bergsträsser, E., Emanuel, P. D., et al. (2005). The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. Blood, 106(6), 2183–2185.

    Article  Google Scholar 

  • Noonan, J. A. (1968). Hypertelorism with Turner phenotype. American Journal of Diseases of Children, 116(4), 373–380.

    Article  Google Scholar 

  • Noonan, J. A. (2005a). Noonan syndrome. In S. Goldstein & C. R. Reynolds (Eds.), Handbook of neurodevelopmental and genetic disorders in adults (pp. 308–319). New York: Guilford Press.

    Google Scholar 

  • Noonan, J. A. (2005b). Noonan syndrome and related disorders. Progress in Pediatric Cardiology, 20(2), 177–185.

    Article  Google Scholar 

  • Noonan, J. A., & Ehmke, D. A. (1963). Associated noncardiac malformations in children with congenital heart. Journal of Pediatrics, 31, 150–153.

    Google Scholar 

  • Opitz, J. M. (1985). The Noonan syndrome. American Journal of Medical Genetics, 21(3), 515–518.

    Article  Google Scholar 

  • Paul, R., Cohen, D. J., & Volkmar, F. R. (1983). Autistic behaviours in a boy with Noonan syndrome. Journal of Autism and Developmental Disorders, 13(4), 433–434.

    Article  Google Scholar 

  • Pierpont, E. I., Pierpont, M. E., Mendelshon, N. J., Roberts, A. E., Tworog-Dube, E., & Seidenberg, M. S. (2009). Genotype differences in cognitive functioning in Noonan syndrome. Genes, Brain and Behavior, 8(3), 275–282.

    Article  Google Scholar 

  • Pierpont, E. I., Weismer, S. E., Roberts, A. E., Tworog-Dube, E., Pierpont, M. E., Mendelshon, N. J., et al. (2010). The language phenotype of children and adolescents with Noonan syndrome. Journal of Speech, Language, and Hearing Research, 53, 917–932.

    Article  Google Scholar 

  • Romano, A. A., Allanson, J. E., Dahlgren, J., Gelb, B. D., Hall, B., Pierpont, M. E., et al. (2010). Noonan syndrome: Clinical features, diagnosis and management guidelines. Pediatrics, 126(4), 746–759.

    Article  Google Scholar 

  • Shaw, A. C., Kalidas, K., Crosby, A. H., Jeffery, S., & Patton, M. A. (2007). The natural history of Noonan syndrome: A long-term follow-up study. Archives of Disease in Childhood, 92(2), 128–132.

    Article  Google Scholar 

  • Tartaglia, M., Mehler, E. L., Goldberg, R., Zampino, G., Brunner, H. G., Kremer, H., et al. (2001). Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2 cause Noonan syndrome. Nature Genetics, 29(4), 465–468.

    Article  Google Scholar 

  • Tartaglia, M., Pennacchio, L. A., Zhao, C., Yadav, K. K., Fodale, V., Sarkozy, A., et al. (2007). Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nature Genetics, 39(1), 75–79.

    Article  Google Scholar 

  • Tidyman, W. E., & Rauen, K. A. (2008). Noonan, Costello and cardio-facio-cutaneous syndromes: Dysregulation of the Ras-MAPK pathway. Expert Reviews in Molecular Medicine, 10, e37.

    Article  Google Scholar 

  • Van der Burgt, I., Toonen, G., Roosenboom, N., Assman-Hulsmans, C., Gabreels, F., Otten, B., et al. (1999). Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression. Journal of Pediatrics, 135(6), 707–713.

    Article  Google Scholar 

  • Verhoeven, W. M. A., Wingbermühle, E., Egger, J., Van Der Burgt, I., & Tuinier, S. (2007). Noonan syndrome: Psychological and psychiatric aspects. American Journal of Medical Genetics, 146A, 191–196.

    Article  Google Scholar 

  • Watanabe, Y., Yano, S., Niihori, T., Aoki, Y., Matsubara, Y., Yoshino, M., et al. (2011). A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder. Brain and Development, 33(7), 576–579.

    Article  Google Scholar 

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Correspondence to Jacqueline A. Noonan .

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Noonan, J.A. (2017). Noonan and Ras/Mapk Pathway Syndromes. In: Volkmar, F. (eds) Encyclopedia of Autism Spectrum Disorders. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6435-8_355-5

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  • DOI: https://doi.org/10.1007/978-1-4614-6435-8_355-5

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