References and Readings
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.
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.
Ghaziuddin, M., Bolyard, B., & Alessi, N. (1994). Autistic disorder in noonan syndrome. Journal of Intellectual Disability Research, 38(Pt 1), 67–72.
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.
Noonan, J. A. (1968). Hypertelorism with Turner phenotype. American Journal of Diseases of Children, 116(4), 373–380.
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.
Noonan, J. A. (2005b). Noonan syndrome and related disorders. Progress in Pediatric Cardiology, 20(2), 177–185.
Noonan, J. A., & Ehmke, D. A. (1963). Associated noncardiac malformations in children with congenital heart. Journal of Pediatrics, 31, 150–153.
Opitz, J. M. (1985). The Noonan syndrome. American Journal of Medical Genetics, 21(3), 515–518.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2017 Springer Science+Business Media LLC
About this entry
Cite this entry
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
Download citation
DOI: https://doi.org/10.1007/978-1-4614-6435-8_355-5
Received:
Accepted:
Published:
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4614-6435-8
Online ISBN: 978-1-4614-6435-8
eBook Packages: Springer Reference Behavioral Science and PsychologyReference Module Humanities and Social SciencesReference Module Business, Economics and Social Sciences