Research

NOONAN SYNDROME

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Kruska, P.et.al(2017). Noonan Syndrome in Diverse Populations. American Journal of Medical Genetics, Part A, 1-12.Read

Roberts et.al (2013) Noonan Syndrome. Lancet. Vol. 381(9863): 333–342. Read

Van Der Burgt, I.(2007) Noonan Syndrome. Orphanet Journal of Rare Diseases. Vol 2:4 Read

Turner, A.M.(2014) Noonan Syndrome. Journal of Paediatrics and Child Health. Vol. 50 E14–E20 Read

Smpokoum P. (2014). Overview of the genetics of Noonan Syndrome. The George Washington School Of Medicine (webinar) Click to view

CARDIOLOGY

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Colquitt, J.L., Noonan, J.A.(2014). Cardiac Findings in Noonan Syndrome on Long-term Follow-up. Congenital Heart Disease. Vol.9:144–150 Read

Gelb, B. (2013). Rasopathies and the Heart.  Child Health and Development Institute at the Mount Sinai School of Medicine (Webinar) Click to view

Sznajer, Y.et.al. (2007). The Spectrum of Cardiac Anomalies in Noonan Syndrome as a Result of Mutations in the PTPN11 Gene. Pediatrics. Vol. 119, 6, 1325-1331. Read

Menashe, (2002). Poor prenatal detection rate of cardiac anomalies in Noonan syndrome.Ultrasound Obstetrics and Gynecology. Vol.19. 51–55. Read

COGNITION/LANGUAGE

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Johnson, E.M. et.al.(2018). PTNP11 Gain of function mutations affect the developing human brain, memory and attention. Cerebral Cortex, 1-9. Read

Roelofs, R.L. et. al.(2016) Intellectual development in Noonan syndrome: a longitudinal study. Brain and Behaviour 6(7):e00479 Read

Pierpont, E.I.(2016). Neuropsychological Functioning in Individuals with Noonan Syndrome: a Systematic Literature Review with Educational and Treatment Recommendations. Journal of Pediatric Neuropsychology Vol 2:14–33 Read

Pierpont EI, Tworog-Dube E, Roberts AE (2015). Attention skills and executive functioning in children with Noonan syndrome and their unaffected siblings. Developmental Medicine and Child Neurology.Vol. 57: 385–392. Read

Lee, Y.S. et. al.(2014). Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome. Nature Neuroscience Vol 17 (12):1736-1745. Read

Pierpont EI, Tworog-Dube E, Roberts AE.(2013). Learning and memory in children with Noonan syndrome. American Journal of Medical Genetics Part A Vol. 161:2250–2257. Read

Pierpont E. I., Ellis Weismer, S., Roberts, A. E., Tworog-Dube, E., Pierpont, M.E., Mendelsohn, N. J., & Seidenberg, M. S. (2010). The language phenotype of children and adolescents with Noonan syndrome. Journal of Speech, Language and Hearing Research. 53, 917-932. Read

Pierpont, E. I., Pierpont, M. E., Mendelsohn, 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. Read

Cesarini, L. et.al.(2009). Cognitive Profile of Disorders Associated with Dysregulation of the RAS/MAPK Signaling Cascade. American Journal of Medical Genetics Part A Vol 149:140–146. Read

GENETICS

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Rauen, K.A. & Tidyman, W.E.(2016). Pathogenetics of the RASopathies. Human Molecular Genetics, Vol. 0, No. 0 1–10. Read

MALIGNANCY

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Flex, E.et.al.(2014). Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis. Human Molecular Genetics Vol. 23, No. 16 4315–4327 Read

Jongmans, M.C.J.et.al. (2011). Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.European Journal of Human Genetics, Vol.19, 870–874 Read

Mohamed Bentires-Alj, A.(2004). Activating Mutations of the Noonan Syndrome-Associated SHP2/PTNP11 Gene in Human Solid Tumors and Adult Acute Myelogenous Leukemia. Cancer Research, Vol. 64, 8816-8820. Read

Siegfried, A. et.al.(2016). Noonan Syndrome, PTNP11 Mutations, and Brain Tumors. A Clinical Report and Review of the Literature. American Journal of Medical Genetics. Vol. 173, 1061-1065. Read

Strullu, M.et.al(2014). Juvenile Myelomonocytic Leukaemia and Noonan Syndrome. Journal of Medical Genetics, Vol. 51, 689-697. Read

GASTROENTEROLOGY

gastroenterology

Shah, N. et.al.(1999). Feeding difficulties and foregut dysmotility in Noonan's syndrome. Archives of Diseases in Childhood. Vol. 81(1): 28–31. Click to view

Dumont, R.C. (2013). Beyond Reflux: Feeding Intolerance, Aversion & The Interplay of Systems. Raby Institute for Integrative Medicine. (Webinar) Click to view

HAEMATOLOGY

hematology

Derbent, et.al.(2010). Clinical and Hematologic Findings in Noonan Syndrome Patients With PTPN11 Gene Mutations. American Journal of Medical Genetics Part A 152A:2768–2774. Read

Bertola, D.R. et.al.(2003).Hematological Findings in Noonan Syndrome. Revista do Hospital das Clínicas 58(1):5-8. Read

GROWTH HORMONE THERAPY

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Giacomozzi, C., et.al.(2014). The Impact of Growth Hormone Therapy on Adult Height in Noonan Syndrome: A Systematic Review. Hormone Research in Peadiatrics, Vol. 83. 167-176. Read

Massart, F., Berteloni, S., Miccoli, M., Baggiani, A.(2014). Height Outcome of the Recombinant Human Growth Hormone Treatment in Subjects with Noonan Syndrome: A Meta Analysis. Journal of Genetic Syndromes and Gene Therapy, Vol. 5 (5) 238. Read

Raynal, P.(2014). Growth Hormone and Noonan Syndrome: update in dysfunctional signaling aspects and in therapy for short stature. Hormonal Studies. doi: 10.7243/2052-8000-2-1. Read

IMMUNITY

Immunity

Lisbona, MP et.al.(2009). Noonan Syndrome Associated with Systemic Lupus Erythematosus. Lupus, Vol. 18, 267-269. Read

Lopez-Rangel, E. et.al.(2005). Systemic Lupus Erythematosus and Other Autoimmune Disorders in Children With Noonan Syndrome. American Journal of Medical Genetics 139A:239–24. Read

Quaio CRDC. et.al. (2012). Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies. Am J Med Genet Part A 158A:1077–1082. Read