What is Noonan syndrome?
Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms
Noonan syndrome
http://www.uams.edu
What syndrome is PS associated with?
Katrice L. Herndon, M.D.
http://www.med.wayne.edu
Physical Examination
http://www.ohsu.edu
Noonan Syndrome – genetic disorder
http://www.am.dodea.edu/
Medical Genetics
Harry Ostrer, M.D.
http://education.med.nyu.edu
KRAS mutations in Noonan syndrome
Mira Han, Pedro Alves
http://www.informatics.indiana.edu
Noonan’s syndrome and other forms of congenital heart disease
Robert J. Levy, M.D.
http://stokes.chop.edu
A Case of Hidden Infirmities
Brian Dockery, MD et al
https://www.uthsc.edu
Noonan's syndrome (male Turner's syndrome)
RICHARD E. FREEMAN MD MPH
http://portal.lhup.edu/
Keratosis Pilaris Atrophicans Faciei and Ulerythema Ophryogenes
Andrews Boris Ioffe, D.O.
http://www.atsu.edu/
Cardiomyopathy (Noonan syndrome)
Kristi Wiggins
https://vmw-lmsc.duhs.duke.edu
Activating mutations in Noonan’s Syndrome
http://people.virginia.edu/
Non Nutritive Suck in an Infant Diagnosed with Noonan Syndrome
http://wordpress.ed.pacificu.edu
500 Published articles on Noonan syndrome
1. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome Yamamoto, G.L., et al., Journal of Medical Genetics, 2015. 52(6): p. 413-421.
2. Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome Vissers, L.E.L.M., et al., European Journal of Human Genetics, 2015. 23(3): p. 317-324.
3. External ear anomalies and hearing impairment in Noonan Syndrome van Trier, D.C., et al., International Journal of Pediatric Otorhinolaryngology, 2015. 79(6): p. 874-878.
4. Peripheral spondyloarthritis in a patient with Noonan's syndrome Saldarriaga Rivera, L.M., et al., Reumatologia clinica, 2015. 11(2): p. 112-5.
5. Z-Type Pattern Pectus Excavatum/Carinatum in A Case of Noonan Syndrome Sacco-Casamassima, M.G., et al., Annals of Thoracic Surgery, 2015. 99(5): p. 1835-1837.
6. Alexithymia, E.P., and Social Assertiveness in Adult Women with Noonan and Turner Syndromes Roelofs, Renee L., et al., American Journal of Medical Genetics Part A, 2015. 167A(4): p. 768-776.
7. Attention skills and executive functioning in children with Noonan syndrome and their unaffected siblings Pierpont, E.I., E. Tworog-Dube, and A.E. Roberts, Developmental Medicine and Child Neurology, 2015. 57(4): p. 385-392.
8. Noonan syndrome with bilateral acute angle-closure Padron-Perez, N., et al., Clinical and Experimental Ophthalmology, 2015. 43(1): p. 90-92.
9. Prolapse of all cardiac valves in Noonan syndrome Otikunta, A.N., et al., BMJ case reports, 2015. 2015.
10. The Efficacy and Safety of Growth Hormone Therapy in Children with Noonan Syndrome: A Review of the Evidence Noonan, J.A. and A.-M. Kappelgaard, Hormone Research in Paediatrics, 2015. 83(3): p. 157-166.
11. A Novel Heterozygous MAP2K1 Mutation in a Patient with Noonan Syndrome with Multiple Lentigines Nishi, E., et al., American Journal of Medical Genetics Part A, 2015. 167A(2): p. 407-411.
12. Optic Nerve Pilomyxoid Astrocytoma in a Patient With Noonan Syndrome Nair, S., et al., Pediatric Blood & Cancer, 2015. 62(6): p. 1084-1086.
13. Successful diuretics treatment of protein-losing enteropathy in Noonan syndrome Mizuochi, T., et al., Pediatrics International, 2015. 57(2): p. e39-e41.
14. Autoimmune liver disease in Noonan Syndrome Loddo, I., et al., European Journal of Medical Genetics, 2015. 58(3): p. 188-190.
15. Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hair Lo, F.-S., et al., American Journal of Medical Genetics Part A, 2015. 167A(6): p. 1285-1288.
16. Cancer spectrum and frequency among children with Noonan, C., and cardio-facio-cutaneous syndromes Kratz, C. P., et al., British Journal of Cancer, 2015. 112(8): p. 1392-1397.
17. Germline Mutation of CBL Is Associated With Moyamoya Disease in a Child With Juvenile Myelomonocytic Leukemia and Noonan Syndrome-Like Disorder Hyakuna, N., et al., Pediatric Blood & Cancer, 2015. 62(3): p. 542-544.
18. Ankle joint-preserving surgery in a patient with severe haemophilia and Noonan syndrome: case report and literature review Horisberger, M., et al., Haemophilia, 2015. 21(1): p. E105-E108.
19. Neonatal Pulmonary Arterial Hypertension and Noonan Syndrome: Two Fatal Cases with a Specific RAF1 Mutation Hopper, R.K., et al., American Journal of Medical Genetics Part A, 2015. 167A(4): p. 882-885.
20. Rapidly Progressive Hypertrophic Cardiomyopathy in an Infant with Noonan Syndrome with Multiple Lentigines: Palliative Treatment with a Rapamycin Analog Hahn, A., et al., American Journal of Medical Genetics Part A, 2015. 167A(4): p. 744-751.
21. Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype Gulec, E.Y., et al., International Journal of Cardiology, 2015. 186: p. 13-15.
22. Expanding the Clinical Spectrum of Ocular Anomalies in Noonan Syndrome: Axenfeld-Anomaly in a Child with PTPN11 Mutation Guerin, A., et al., American Journal of Medical Genetics Part A, 2015. 167A(2): p. 403-406.
23. Use of organic compound for the treatment of Noonan Syndrome Gu, J. 2015, Novartis AG.
24. The Impact of Growth Hormone Therapy on Adult Height in Noonan Syndrome: A Systematic Review Giacomozzi, C., et al., Hormone Research in Paediatrics, 2015. 83(3): p. 167-176.
25. Vascular endothelial growth factor (VEGF) levels in short, G.t.c.a.d.p.o.V.-C.i.N.s.F., S., et al., Journal of Endocrinological Investigation, 2015. 38(4): p. 399-406.
26. The first PTPN11 mutations in hotspot exons reported in Moroccan children with Noonan syndrome and comparison of mutation rate to previous studies El Bouchikhi, I., et al., Turkish Journal of Medical Sciences, 2015. 45(2): p. 306-312.
27. Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway Ejarque, I., et al., Revista De Neurologia, 2015. 60(9): p. 408-412.
28. Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing Coromilas, A., et al., Clinical case reports, 2015. 3(4): p. 237-9.
29. Elevated Ca2+ transients and increased myofibrillar power generation cause cardiac hypercontractility in a model of Noonan syndrome with multiple lentigines Clay, S.A., et al., American Journal of Physiology-Heart and Circulatory Physiology, 2015. 308(9): p. H1086-H1095.
30. Moyamoya Syndrome in a Patient With Noonan-like Syndrome With Loose Anagen Hair Choi, J.-H., et al., Pediatric Neurology, 2015. 52(3): p. 352-355.
31. Cardiofaciocutaneous syndrome, a.N.s.r.d.C.a.m.f.i.p.C., Atilano, et al., Medicina Clinica, 2015. 144(2): p. 67-72.
32. Repeated General Anesthesia in a Patient With Noonan Syndrome Asahi, Y., et al., Anesthesia progress, 2015. 62(2): p. 71-3.
33. Fatal Outcome After Renal Transplant in a Pediatric Patient With Noonan Syndrome Araz, C., et al., Experimental and Clinical Transplantation, 2015. 13: p. 273-275.
34. Coarctation of the Aorta in Noonan-Like Syndrome With Loose Anagen Hair Zmolikova, M., et al., American Journal of Medical Genetics Part A, 2014. 164(5): p. 1218-1221.
35. Unique Cerebrovascular Anomalies in Noonan Syndrome With RAF1 Mutation Zarate, Y.A., et al., Journal of Child Neurology, 2014. 29(8): p. NP13-NP17.
36. Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11) Wei, Q., et al., BMC Structural Biology, 2014. 14: p. 10 (11 pp.)-10 (11 pp.).
37. INCONTINENCE IN PERSONS WITH NOONAN SYNDROME Von Gontard, A., et al., Journal of Intellectual Disability Research, 2014. 58(10): p. 889-889.
38. Noonan syndrome Turner, A.M., Journal of Paediatrics and Child Health, 2014. 50(10): p. E14-E20.
39. Severe Craniosynostosis With Noonan Syndrome Phenotype Associated With SHOC2 Mutation: Clinical Evidence of Crosslink Between FGFR and RAS Signaling Pathways Takenouchi, T., et al., American Journal of Medical Genetics Part A, 2014. 164A(11): p. 2869-2872.
40. Juvenile myelomonocytic leukaemia and Noonan syndrome Strullu, M., et al., Journal of Medical Genetics, 2014. 51(10): p. 689-697.
41. Identification of a Novel de Novo Deletion in RAF1 Associated With Biventricular Hypertrophy in Noonan Syndrome Sana, M.E., et al., American Journal of Medical Genetics Part A, 2014. 164A(8): p. 2069-2073.
42. Anaesthesia for emergency ventriculo-peritoneal shunt in an adolescent with Noonan's syndrome Samra, T. and N. Banerjee, Indian journal of anaesthesia, 2014. 58(4): p. 452-5.
43. Acute Lymphoblastic Leukemia Developing in a Patient With Noonan Syndrome Harboring a PTPN11 Germline Mutation Sakamoto, K., et al., Journal of Pediatric Hematology Oncology, 2014. 36(2): p. E136-E139.
44. GENOTYPE - PHENOTYPE CORRELATIONS IN NOONAN SYNDROME Rusu, C., et al., Acta Endocrinologica-Bucharest, 2014. 10(3): p. 463-476.
45. Pulmonary Interstitial Glycogenosis in a Patient Ultimately Diagnosed With Noonan Syndrome Ross, M.K., et al., Pediatric Pulmonology, 2014. 49(5): p. 508-511.
46. GSM1318587: HUMAN INDUCED PLURIPOTENT STEM CELL_NOONAN SYNDROME PATIENT #2 Roman, A.C., et al., Gene Expression Omnibus, 2014.
47. GSM1318586: HUMAN INDUCED PLURIPOTENT STEM CELL_NOONAN SYNDROME PATIENT N#2 Roman, A.C., et al., Gene Expression Omnibus, 2014.
48. GSM1318585: HUMAN INDUCED PLURIPOTENT STEM CELL_NOONAN SYNDROME PATIENT N#1 1 Roman, A.C., et al., Gene Expression Omnibus, 2014.
49. GSM1318588: HUMAN INDUCED PLURIPOTENT STEM CELL_NOONAN SYNDROME/JMML PATIENT N#3 Roman, A.C., et al., Gene Expression Omnibus, 2014.
50. Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome Rodriguez, F.A., et al., Journal of Pediatric Endocrinology & Metabolism, 2014. 27(3-4): p. 305-309.
51. Ectatic coronary arteries in a patient with Noonan syndrome on transoesophageal echocardiography Ramaiah, A.K.H., J.K. Das, and K.R.S. Shetty, Annals of cardiac anaesthesia, 2014. 17(2): p. 139-40.
52. Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11) Qiu, W., et al., Bmc Structural Biology, 2014. 14.
53. Cardiovascular disease in Noonan syndrome Prendiville, T.W., et al., Archives of Disease in Childhood, 2014. 99(7): p. 629-634.
54. Lymphangioma Circumscriptum of the Vulva in a Patient With Noonan Syndrome Pootrakul, L., et al., Cutis, 2014. 93(6): p. 297-300.
55. Genetic identification of a case of Noonan syndrome and treatment with growth hormone Pi, G., et al., Medicina Clinica, 2014. 142(8): p. 378-379.
56. Successful interdisciplinary pain management in the treatment of chronic joint pain in a patient with Noonan Syndrome: a case report Patel, J. and R. Calisoff, Journal of Pain, 2014. 15(4): p. S37-S37.
57. PZR coordinates Shp2 Noonan and LEOPARD syndrome signaling in zebrafish and mice Paardekooper Overman, J., et al., Molecular and cellular biology, 2014. 34(15): p. 2874-89.
58. Phosphoproteomics-mediated identification of Fer kinase as a target of mutant Shp2 in Noonan and LEOPARD syndrome Paardekooper Overman, J., et al., PloS one, 2014. 9(9): p. e106682-e106682.
59. PZR Coordinates Shp2 Noonan and LEOPARD Syndrome Signaling in Zebrafish and Mice Overman, J.P., et al., Molecular and Cellular Biology, 2014. 34(15): p. 2874-2889.
60. Phosphoproteomics-Mediated Identification of Fer Kinase as a Target of Mutant Shp2 in Noonan and LEOPARD Syndrome Overman, J.P., et al., Plos One, 2014. 9(9).
61. CARDIAC FINDINGS IN NOONAN SYNDROME ON LONG-TERM FOLLOW-UP Noonan, J.A. and J.L. Colquitt, Cardiology, 2014. 128: p. 45-45.
62. Perinatal Features of the RASopathies: Noonan Syndrome, C.S.a.C.S.M., Angela, et al., American Journal of Medical Genetics Part A, 2014. 164A(11): p. 2814-2821.
63. Spontaneous dislocation of a crystalline lens to the anterior chamber with pupillary block glaucoma in Noonan Syndrome: a case report Mukhopadhyaya, U., et al., The Pan African medical journal, 2014. 17: p. 135-135.
64. Cervical characteristics of Noonan syndrome Miyamoto, J.J., T. Yabunaka, and K. Moriyama, European Journal of Orthodontics, 2014. 36(2): p. 226-232.
65. Gowers' intrasyringeal hemorrhage associated with Chiari type I malformation in Noonan syndrome Mitsuhara, T., et al., Surgical neurology international, 2014. 5: p. 6-6.
66. Twin Infant with Lymphatic Dysplasia Diagnosed with Noonan Syndrome by Molecular Genetic Testing Mathur, D., et al., Fetal and Pediatric Pathology, 2014. 33(4): p. 253-257.
67. Oral manifestations of Noonan syndrome: review of the literature and a report of four cases Mallineni, S.K., C.K.Y. Yiu, and N.M. King, Romanian Journal of Morphology and Embryology, 2014. 55(4): p. 1503-1509.
68. Multidetector computed tomography-guided percutaneous transluminal septal myocardial ablation in a Noonan syndrome patient with hypertrophic obstructive cardiomyopathy Maekawa, Y., et al., International Journal of Cardiology, 2014. 172(1): p. E76-E78.
69. Diagnosis and treatment of Noonan syndrome Liu, X. and Z. Su, Chinese Journal of Applied Clinical Pediatrics, 2014. 29(20): p. 1531-1533.
70. Diagnosis of Noonan syndrome and related disorders using target next generation sequencing Lepri, F.R., et al., Bmc Medical Genetics, 2014. 15.
71. Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome Lee, Y.-S., et al., Nature Neuroscience, 2014. 17(12): p. 1736-1743.
72. Ocular manifestations of Noonan syndrome in twin siblings: A case report of keratoconus with acute corneal hydrops Lee, A. and M.V. Sakhalkar, Indian Journal of Ophthalmology, 2014. 62(12): p. 1171-1173.
73. Dermatologist interest in the diagnosis of Noonan syndrome Krich, S., et al., Journal Der Deutschen Dermatologischen Gesellschaft, 2014. 12: p. 28-28.
74. Mitral regurgitation in a patient with Noonan syndrome: re-do mitral valve repair via mini-thoracotomy Kang, P.J., H.G. Je, and S.K. Lee, Turk Gogus Kalp Damar Cerrahisi Dergisi-Turkish Journal of Thoracic and Cardiovascular Surgery, 2014. 22(4): p. 821-825.
75. K-Ras(V14I) recapitulates Noonan syndrome in mice Hernandez-Porras, I., et al., Proceedings of the National Academy of Sciences of the United States of America, 2014. 111(46): p. 16395-16400.
76. Germline CBL Mutation Associated With a Noonan- Like Syndrome With Primary Lymphedema and Teratoma Associated With Acquired Uniparental Isodisomy of Chromosome 11q23 Hanson, H.L., et al., American Journal of Medical Genetics Part A, 2014. 164(4): p. 1003-1009.
77. Noonan-Syndrome: A Considerably Prevalent but Neglected Psychiatric Differential Diagnosis Graf, H., D. Brummer, and B. Abler, Journal of Neuropsychiatry and Clinical Neurosciences, 2014. 26(3): p. E30-E30.
78. Contribution of RIT1 Mutations to the Pathogenesis of Noonan Syndrome: Four New Cases and Further Evidence of Heterogeneity Gos, M., et al., American Journal of Medical Genetics Part A, 2014. 164A(9): p. 2310-2316.
79. SHOC2 mutations causing noonan-like syndrome with loose anagen hair Gelb, B.D., et al. 2014, Icahn School of Medicine at Mount Sinai; The Regents of the University of California.
80. Bilateral giant coronary aneurysms in a 40-year-old male with Noonan syndrome caused by a KRAS germline mutation Fujimoto, N., et al., International Journal of Cardiology, 2014. 173(3): p. E63-E66.
81. Cardiac malformations in children with Noonan syndrome Florianczyk, T., et al., Nowa Pediatria, 2014. 18(4): p. 122-127.
82. RAS-pathies: Noonan syndrome and other related diseases. The literature review Faassen, M.V., Problemy Endokrinologii, 2014. 60(6): p. 45-52.
83. UNILATERAL GIANT CELL LESION OF THE JAW IN NOONAN SYNDROME Eyselbergs, M., et al., Jbr-Btr, 2014. 97(2): p. 90-93.
84. Novel Association of Neurofibromatosis Type 1-Causing Mutations in Families With Neurofibromatosis-Noonan Syndrome Ekvall, S., et al., American Journal of Medical Genetics Part A, 2014. 164(3): p. 579-587.
85. A PTPN11 Allele Encoding a Catalytically Impaired SHP2 Protein in a Patient With a Noonan Syndrome Phenotype Edwards, J.J., et al., American Journal of Medical Genetics Part A, 2014. 164A(9): p. 2351-2355.
86. Dysembryoplastic neuroepithelial tumor (DNET) and Noonan syndrome. A case report Delisle, M.B., et al., Brain Pathology, 2014. 24: p. 73-73.
87. ERKquake in Noonan syndrome: one step closer to personalized medicine Costa-Mattioli, M., Nature Neuroscience, 2014. 17(12): p. 1627-1629.
88. Frequency of Aortic Dilation in Noonan Syndrome Cornwall, J.W., et al., American Journal of Cardiology, 2014. 113(2): p. 368-371.
89. Cardiac Findings in Noonan Syndrome on Long-term Follow-up Colquitt, J.L. and J.A. Noonan, Congenital Heart Disease, 2014. 9(2): p. 144-150.
90. Noonan Syndrome Peripheral Blood Cells Show Enhanced Spontaneous Colonies Growth in vitro and Hyperactive JAK and RAS Intracellular Signalling Pathways Cianci, P., et al., Journal of Pediatric Hematology Oncology, 2014. 36(4): p. 325-325.
91. Next-generation sequencing identifies rare variants associated with Noonan syndrome Chen, P.-C., et al., Proceedings of the National Academy of Sciences of the United States of America, 2014. 111(31): p. 11473-11478.
92. A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions Carapito, R., et al., Journal of Human Genetics, 2014. 59(1): p. 57-59.
93. Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish Bonetti, M., et al., Development, 2014. 141(9): p. 1961-1970.
94. Noonan Syndrome Bhambhani, V. and M. Muenke, American Family Physician, 2014. 89(1): p. 37-43.
95. Further Evidence of the Importance of RIT1 in Noonan Syndrome Bertola, D.R., et al., American Journal of Medical Genetics Part A, 2014. 164A(11): p. 2952-2957.
96. CENTRAL NERVOUS SYSTEM (CNS) GLIAL NEOPLASMS IN THREE INDIVIDUALS WITH NOONAN SYNDROME (NS) AND PTPN11 MUTATION, A.A.R.O.T.L.B., Anne and D. Pond, Neuro-Oncology, 2014. 16: p. 28-28.
97. Concurrence of Anorexia Nervosa and Noonan Syndrome Arvaniti, A., et al., European Eating Disorders Review, 2014. 22(1): p. 83-85.
98. Hemostatic Abnormalities in Noonan Syndrome Artoni, A., et al., Pediatrics, 2014. 133(5): p. E1299-E1304.
99. Juvenile Xanthogranuloma in Noonan Syndrome Ali, M.M., et al., Journal of Investigative Medicine, 2014. 62(1): p. 231-231.
100. Postpubertal Cherubism with Noonan Syndrome Ahmed, B. and M. Amin, Jcpsp-Journal of the College of Physicians and Surgeons Pakistan, 2014. 24: p. S39-S40.
101. know, I.f.y.f.d.N.s.w.y.s., American family physician, 2014. 89(1): p. Online-Online.
102. syndrome, C.A.p.w.N., Nederlands tijdschrift voor tandheelkunde, 2014. 121(3): p. 132-132.
103. A Case of Non-Immune Hydrops Fetalis due to Umbilical Venous Malformation and Noonan Syndrome 윤나라, et al., The Korean Journal of Perinatology, 2013. 24(4): p. 300-305.
104. Disruption of Shp2 in Osteoblasts Causes Skeletal Abnormality in Mice Resembling of Human Noonan Syndrome Zheng, J., et al., Journal of Bone and Mineral Research, 2013. 28.
105. Age-Dependent Germ line Mosaicism of the Most Common Noonan Syndrome Mutation Shows the Signature of Germ line Selection Yoon, S.-R., et al., American Journal of Human Genetics, 2013. 92(6): p. 917-926.
106. Clinical and laboratory manifestation of bleeding diathesis in Noonan syndrome Waespe, N., et al., Journal of Thrombosis and Haemostasis, 2013. 11: p. 545-545.
107. A Unique Case of a 7-Year-Old With Noonan's Syndrome, H.C., Biventricular Outflow Tract Obstruction, and a Right Ventricular Aneurysm Tozzi, Robert J., et al., Journal of the American College of Cardiology, 2013. 62(7): p. 643-643.
108. Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome Timeus, F., et al., Oncology Reports, 2013. 30(2): p. 553-559.
109. Hypertrophic cardiomyopathy and Noonan Syndrome: an association to remember Sousa, C., et al., European Journal of Heart Failure, 2013. 12: p. S185-S186.
110. Posterior Communicating Artery Aneurysm in 20-year-old Female with Noonan's Syndrome Scumpia, A.J., et al., The western journal of emergency medicine, 2013. 14(2): p. 175-6.
111. Azygos anterior cerebral artery aneurysm in a patient with Noonan syndrome Ryu, B., et al., No shinkei geka. Neurological surgery, 2013. 41(9): p. 773-7.
112. Conservative Management of Severe Open Bite and Feeding Difficulties in Patient With Noonan Syndrome Roriz Fonteles, C.S., et al., Cleft Palate-Craniofacial Journal, 2013. 50(2): p. 242-248.
113. Noonan syndrome Roberts, A.E., et al., Lancet, 2013. 381(9863): p. 333-342.
114. Noonan Syndrome With Complete Atrioventricular Canal Defect With Pulmonary Stenosis Pradhan, A.K., et al., Journal of the American College of Cardiology, 2013. 62(20): p. 1905-1905.
115. Learning and Memory in Children With Noonan Syndrome Pierpont, E.I., E. Tworog-Dube, and A.E. Roberts, American Journal of Medical Genetics Part A, 2013. 161(9): p. 2250-2257.
116. A LETHAL COURSE OF HYPERTROPHIC CARDIOMYOPATHY IN NOONAN SYNDROME DUE TO A NOVEL KRAS MUTATION AND RAS-MAPK PATHWAY HYPERACTIVATION Nosan, G., et al., Intensive Care Medicine, 2013. 39: p. S45-S45.
117. A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study Nosan, G., et al., Croatian Medical Journal, 2013. 54(6): p. 574-578.
118. Protein tyrosine phosphatase SHP2/PTPN11 mistargeting as a consequence of SH2-domain point mutations associated with Noonan Syndrome and leukemia Mueller, P.J., et al., Journal of Proteomics, 2013. 84: p. 132-147.
119. Analysis of giant cell tumour of bone cells for Noonan syndrome/Cherubism-related mutations Moskovszky, L., et al., Journal of Oral Pathology & Medicine, 2013. 42(1): p. 95-98.
120. Severe hypertrophic cardiomyopathy in Noonan syndrome-consider sequencing genes encoding sarcomeric proteins McBride, K.L., American Journal of Medical Genetics Part A, 2013. 161A(1): p. 230-231.
121. GH Therapy and First Final Height Data in Noonan-Like Syndrome With Loose Anagen Hair (Mazzanti Syndrome) Mazzanti, L., et al., American Journal of Medical Genetics Part A, 2013. 161(11): p. 2756-2761.
122. Noonan Syndrome and Different Morphologic Expressions of Hypertrophic Cardiomyopathy Martinez-Quintana, E., F. Rodriguez-Gonzalez, and P. Junquera-Rionda, Pediatric Cardiology, 2013. 34(8): p. 1871-1873.
123. RASopathies: From Noonan to LEOPARD Syndrome Martinez-Quintana, E. and F. Rodriguez-Gonzalez, Revista Espanola De Cardiologia, 2013. 66(9): p. 756-757.
124. Impaired motor cortex plasticity in patients with Noonan syndrome Mainberger, F., et al., Clinical Neurophysiology, 2013. 124(12): p. 2439-2444.
125. LEOPARD syndrome or Noonan syndrome? A difficult distinction in early childhood Madhogaria, S., S. Sharif, and C. Moss, British Journal of Dermatology, 2013. 169: p. 119-119.
126. Ulerythema Ophryogenes, A.R.R.C.M.o.N.S.C.R.a.R.o.t.L.L., Kayi, M.A. Thomas, and R.M. Haber, Journal of Cutaneous Medicine and Surgery, 2013. 17(3): p. 212-218.
127. Do you know this syndrome? Kondo, R.N., et al., Anais Brasileiros De Dermatologia, 2013. 88(4): p. 664-666.
128. Association between Noonan syndrome and Chiari I malformation: a case-based update Keh, Y.S., L. Abernethy, and B. Pettorini, Childs Nervous System, 2013. 29(5): p. 749-752.
129. MAPK activation in mature cataract associated with Noonan syndrome Hashida, N., X. Ping, and K. Nishida, Bmc Ophthalmology, 2013. 13.
130. Coronary Artery Ectasia in an Adult Noonan Syndrome Detected on Coronary CT Angiography Hakim, F.A., et al., Heart Lung and Circulation, 2013. 22(12): p. 1051-1053.
131. Ulerythema ophryogenes and Noonan syndrome Guidry, J.A., et al., Dermatology online journal, 2013. 19(2): p. 14-14.
132. Expanding the SHOC2 Mutation Associated Phenotype of Noonan Syndrome With Loose Anagen Hair: Structural Brain Anomalies and Myelofibrosis Gripp, K.W., et al., American Journal of Medical Genetics Part A, 2013. 161(10): p. 2420-2430.
133. Postnatal phenotype according to prenatal ultrasound features of Noonan syndrome: a retrospective study of 28 cases Gaudineau, A., et al., Prenatal Diagnosis, 2013. 33(3): p. 238-241.
134. Noonan Syndrome Peripheral Blood Cells Show Enhanced Spontaneous Colonies Growth In Vitro and Hyperactive JAK and RAS Intracellular Signalling Pathways Gaipa, G., et al., Blood, 2013. 122(21).
135. Mutational analysis of the PTPP11 gene in Egyptian patients with Noonan syndrome Essawi, M.L., et al., Journal of the Formosan Medical Association, 2013. 112(11): p. 707-712.
136. Tegumentary manifestations of Noonan and Noonan-related syndromes D'Angioli Costa Quaio, C.R., et al., Clinics, 2013. 68(8): p. 1079-1083.
137. Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings Croonen, E.A., et al., European Journal of Human Genetics, 2013. 21(9): p. 936-942.
138. Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients Croonen, E.A., et al., Molecular syndromology, 2013. 4(5): p. 227-34.
139. Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes Cirstea, I.C., et al., Human Molecular Genetics, 2013. 22(2): p. 262-270.
140. A Boy With Burkitt Lymphoma Associated With Noonan Syndrome Due to a Mutation in RAF1 Cianci, P., et al., American Journal of Medical Genetics Part A, 2013. 161A(6): p. 1401-1404.
141. A de novo T73I Mutation in PTPN11 in a Neonate with Severe and Prolonged Congenital Thrombocytopenia and Noonan Syndrome Christensen, R.D., et al., Neonatology, 2013. 104(1): p. 1-5.
142. Anesthetic implications of emergent Cesarean section in a parturient with Noonan syndrome and bacterial endocarditis Chase, C.J., E.J. Holak, and P.S. Pagel, Journal of Clinical Anesthesia, 2013. 25(5): p. 403-406.
143. LEOPARD Syndrome: A Variant of Noonan Syndrome Strongly Associated With Hypertrophic Cardiomyopathy Carcavilla, A., et al., Revista Espanola De Cardiologia, 2013. 66(5): p. 350-356.
144. Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation Capalbo, D., et al., Italian Journal of Pediatrics, 2013. 38.
145. A patient with Noonan syndrome Bins, A. and R.A.T. Gortzak, Nederlands tijdschrift voor tandheelkunde, 2013. 120(12): p. 671-5.
146. IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene Bertelloni, S., et al., Hormones-International Journal of Endocrinology and Metabolism, 2013. 12(1): p. 86-92.
147. Multiple Granular Cell Tumors in a Child with Noonan Syndrome Bamps, S., et al., European Journal of Pediatric Surgery, 2013. 23(3): p. 257-259.
148. Comment on "Prenatal diagnosis and prognosis in Noonan syndrome" Baldassarre, G., et al., Prenatal Diagnosis, 2013. 33(13): p. 1318-1320.
149. Haemostatic abnormalities in patients with Noonan syndrome Artoni, A., Journal of Thrombosis and Haemostasis, 2013. 11: p. 838-838.
150. Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a.R.M.P.S.A., Yoko, et al., American Journal of Human Genetics, 2013. 93(1): p. 173-180.
151. The other side of Turner's: Noonan's syndrome Agarwal, P., et al., Indian journal of endocrinology and metabolism, 2013. 17(5): p. 794-8.
152. A Case Report of Noonan Syndrome with Mental Retardation and Attention-Deficit Hyperactivity Disorder 김원우 and 심세훈, Korean Journal of Child & Adolescent Psychiatry, 2012. 23(1): p. 31-35.
153. A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype Yimenicioglu, S., et al., Childs Nervous System, 2012. 28(12): p. 2181-2183.
154. Case Report of Noonan Syndrome Xu, X. and X. He, Journal of Applied Clinical Pediatrics, 2012. 27(14): p. 1074-1074,1104.
155. Increased BRAF Heterodimerization Is the Common Pathogenic Mechanism for Noonan Syndrome-Associated RAF1 Mutants Wu, X., et al., Molecular and Cellular Biology, 2012. 32(19): p. 3872-3890.
156. Cognitive functioning of adults with Noonan syndrome: a case-control study Wingbermuhle, E., et al., Genes Brain and Behavior, 2012. 11(7): p. 785-793.
157. Affective functioning and social cognition in Noonan syndrome Wingbermuhle, E., et al., Psychological Medicine, 2012. 42(2): p. 419-426.
158. Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: A study from the Pediatric Cardiomyopathy Registry Wilkinson, J.D., et al., American Heart Journal, 2012. 164(3): p. 442-448.
159. Bleeding diathesis in Noonan syndrome: Is acquired von Willebrand syndrome the clue? Wiegand, G., et al., Thrombosis Research, 2012. 130(5): p. E251-E254.
160. NOONAN'S SYNDROME AND EPILEPSY. NEUROPHYSIOLOGICAL FINDINGS Torres Cano, N., et al., Epilepsia, 2012. 53: p. 129-130.
161. Medical complications, c.f., and educational outcomes in adults with Noonan syndrome Smpokou, Patroula, et al., American Journal of Medical Genetics Part A, 2012. 158A(12): p. 3106-3111.
162. Bleeding Disorders and Noonan Syndrome Sharathkumar, A.A., Pediatric Blood & Cancer, 2012. 59(3): p. 592-592.
163. Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, w.c.t.s.s.S.-N., Audrey De Rocca, et al., Proceedings of the National Academy of Sciences of the United States of America, 2012. 109(11): p. 4257-4262.
164. Prenatal diagnosis of hypoplastic left heart syndrome associated with Noonan Syndrome and de novo RAF1 mutation Schulz, S., et al., Prenatal Diagnosis, 2012. 32(10): p. 1016-1018.
165. Noonan syndrome presenting with neurogenic intermittent claudication Rezvanfar, M.R. and F. Faragy, Indian journal of medical sciences, 2012. 66(7-8): p. 197-8.
166. Characterization of a novel KRAS mutation identified in Noonan syndrome Razzaque, M.A., et al., American Journal of Medical Genetics Part A, 2012. 158A(3): p. 524-532.
167. Ocular manifestations of Noonan syndrome Pitta Marin, L.d.R., et al., Ophthalmic Genetics, 2012. 33(1): p. 1-5.
168. Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines) Piard, J., et al., American Journal of Medical Genetics Part A, 2012. 158A(6): p. 1406-1410.
169. Leukemogenic and Noonan Syndrome-related SHP-2 Mutations Promote Oncogenic Transformation Perez, P.M. and R. Schaefer, European Journal of Cancer, 2012. 48: p. S85-S85.
170. Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D Pauli, S., et al., American Journal of Medical Genetics Part A, 2012. 158A(3): p. 652-658.
171. Two Independent de novo Mutations as a Cause for Neurofibromatosis Type 1 and Noonan Syndrome in a Single Family Pasmant, E., et al., American Journal of Medical Genetics Part A, 2012. 158A(9): p. 2290-2291.
172. DEFECTIVE MITOCHONDRIAL SUPER-COMPLEX ASSEMBLY IN NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR AND SHOC2 MUTATIONS Parikh, S. and R. Moran, Journal of Inherited Metabolic Disease, 2012. 35: p. S127-S127.
173. Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment Papadopoulou, A., et al., European Journal of Pediatrics, 2012. 171(1): p. 51-58.
174. Juvenile Myelomonocytic Leukemia in a 16-Year-Old With Noonan Syndrome: Case Report Ortiz, M.V., et al., Journal of Pediatric Hematology Oncology, 2012. 34(7): p. 569-572.
175. Severe congenital thrombocytopaenia--first clinical manifestation of Noonan syndrome Nunes, P., et al., BMJ case reports, 2012. 2012.
176. Atypical Granular Cell Tumor Occurring in an Individual with Noonan Syndrome Treated with Growth Hormone Moos, D., et al., Pediatric Dermatology, 2012. 29(5): p. 665-666.
177. Counteracting Effects Operating on Src Homology 2 Domain-containing Protein-tyrosine Phosphatase 2 (SHP2) Function Drive Selection of the Recurrent Y62D and Y63C Substitutions in Noonan Syndrome Martinelli, S., et al., Journal of Biological Chemistry, 2012. 287(32): p. 27066-27077.
178. Ocular manifestations of Noonan syndrome Marin, L.d.R.P., et al., Ophthalmic genetics, 2012. 33(1): p. 1-5.
179. NOONAN'S SYNDROME Malcic, I., et al., Paediatria Croatica, 2012. 56(4): p. 297-299.
180. Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway Malaquias, A.C., et al., American Journal of Medical Genetics Part A, 2012. 158A(11): p. 2700-2706.
181. Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome Luo, C., et al., American Journal of Medical Genetics Part A, 2012. 158A(8): p. 1918-1923.
182. Omphalocele in a patient with Noonan syndrome Longoni, L., et al., Clinical Dysmorphology, 2012. 21(4): p. 215-217.
183. Mechanism and treatment for the learning and memory deficits in mouse models of Noonan syndrome Lee, Y.S., et al., Society for Neuroscience Abstract Viewer and Itinerary Planner, 2012. 42.
184. Effect of 4years of growth hormone therapy in children with Noonan syndrome in the American Norditropin Studies: Web-Enabled Research (ANSWER) Program registry Lee, P.A., et al., International journal of pediatric endocrinology, 2012. 2012(1): p. 15-15.
185. Constitutional NRAS Mutations Are Rare Among Patients With Noonan Syndrome or Juvenile Myelomonocytic Leukemia Kraoua, L., et al., American Journal of Medical Genetics Part A, 2012. 158A(10): p. 2407-2411.
186. Life-threatening obstructive sleep apnea caused by adenoid hypertrophy in an infant with noonan syndrome Khirani, S., et al., Case reports in pediatrics, 2012. 2012: p. 514514-514514.
187. Case Report: Noonan Syndrome With Multiple Giant Cell Lesions and Review of the Literature Karbach, J., et al., American Journal of Medical Genetics Part A, 2012. 158A(9): p. 2283-2289.
188. Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant Hoban, R., et al., American Journal of Medical Genetics Part A, 2012. 158A(6): p. 1411-1413.
189. RAS/MAPK signal transduction pathway and its role in the pathogenesis of Noonan syndrome Gos, M., M. Leszkiewicz, and A. Abramowicz, Postepy biochemii, 2012. 58(3): p. 255-64.
190. Chronic tubulointerstitial nephritis in a solitary kidney of a child with Noonan syndrome Golay, V., R. Pandey, and A. Roychowdhary, Indian journal of nephrology, 2012. 22(4): p. 304-6.
191. Compositions and methods for detecting Noonan syndrome Gelb, B.D., M. Tartaglia, and L. Pennacchio. 2012, Mount Sinai School of Medicine; The Regents of the University of California.
192. Transcriptional hallmarks of noonan syndrome and noonan-like syndrome with loose anagen hair Ferrero, G.B., et al., Human Mutation, 2012. 33(4): p. 703-709.
193. Alterations in RAS-MAPK Genes in 200 Spanish Patients With Noonan and Other Neuro-Cardio-Facio-Cutaneous Syndromes. Genotype and Cardiopathy Ezquieta, B., et al., Revista Espanola De Cardiologia, 2012. 65(5): p. 447-455.
194. Co-existence of neurofibromatosis-1, N.-s.a.g.c.g.i.a.s.p.t.j.-l.w.D., K., et al., Oral Diseases, 2012. 18: p. 38-38.
195. Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, w.c.t.s.s.D.R.S.-N., Audrey, et al., Proceedings of the National Academy of Sciences of the United States of America, 2012. 109(11): p. 4257-62.
196. Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome Croonen, E.A., et al., Clinical Dysmorphology, 2012. 21(4): p. 212-214.
197. Decreased bone mineralization in children with Noonan syndrome: Another consequence of dysregulated RAS MAPKinase pathway? Choudhry, K.S., et al., Molecular Genetics and Metabolism, 2012. 106(2): p. 237-240.
198. Response to Growth Hormone Therapy in Children with Noonan Syndrome: Correlation with or without PTPN11 Gene Mutation Choi, J.-H., et al., Hormone Research in Paediatrics, 2012. 77(6): p. 388-393.
199. Response to Growth Hormone Therapy in Children with Noonan Syndrome: Correlation with or without PTPN11 Gene Mutation (vol 77, p., 2012) Choi,, Hormone Research in Paediatrics, 2012. 78(3): p. 200-200.
200. Short stature and its treatment in Turner and Noonan syndromes Chacko, E.M. and R. Rapaport, Current Opinion in Endocrinology Diabetes and Obesity, 2012. 19(1): p. 40-46.
201. Update on Turner and Noonan Syndromes Chacko, E., et al., Endocrinology and Metabolism Clinics of North America, 2012. 41(4): p. 713-+.
202. Noonan-Like Syndrome With Loose Anagen Hair Associated With Growth Hormone Insensitivity and Atypical Neurological Manifestations Capalbo, D., et al., American Journal of Medical Genetics Part A, 2012. 158A(4): p. 856-860.
203. Clinical and molecular study of the Noonan syndrome Cammarata-Scalisi, F., et al., Investigacion Clinica, 2012. 53(4): p. 395-401.
204. Bleeding disorders in Noonan syndrome Briggs, B.J. and J.D. Dickerman, Pediatric Blood & Cancer, 2012. 58(2): p. 167-172.
205. Bleeding disorders in Noonan Syndrome Briggs, B. and J.D. Dickerman, Pediatric Blood & Cancer, 2012. 59(3): p. 593-593.
206. KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: Report of another family with metopic craniosynostosis Brasil, A.S., et al., American Journal of Medical Genetics Part A, 2012. 158A(5): p. 1178-1184.
207. Propionic acidemia in a male newborn with Noonan syndrome: a case report Bouet, K., et al., Boletin de la Asociacion Medica de Puerto Rico, 2012. 104(1): p. 37-9.
208. Case report: Noonan-like multiple central giant cell granuloma syndrome Bitton, N., et al., Pediatric dentistry, 2012. 34(5): p. 144-7.
209. Health and Quality of Life in Adults with Noonan Syndrome Binder, G., et al., Journal of Pediatrics, 2012. 161(3): p. 501-+.
210. DYSEMBRYOPLASTIC NEUROEPITHELIAL TUMOR IN TWO RELATIVES WITH NOONAN SYNDROME AND A PTPN11 MUTATION Bendel, A., et al., Neuro-Oncology, 2012. 14: p. 156-156.
211. Efficacy of Growth Hormone Treatment in Patients with Noonan syndrome and Growth Hormone Deficiency 이슬, et al., Annals of Pediatirc Endocrinology & Metabolism, 2011. 16(2): p. 100-105.
212. Noonan Syndrome Confirmed to KRAS Gene Mutation: A Case of KRAS Gene Mutation 김성우, et al., Neonatal medicine, 2011. 18(2): p. 374-378.
213. Bleeding from the Small Intestine and Aortic Regurgitation in Noonan Syndrome Yoshino, H., et al., Internal Medicine, 2011. 50(21): p. 2611-2613.
214. MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation Wu, X., et al., Journal of Clinical Investigation, 2011. 121(3): p. 1009-1025.
215. MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1L613V mutation Wu, X., et al., Journal of Clinical Investigation, 2011. 121(3): p. 998-1008.
216. BEHAVIOURAL PHENOTYPE OF NOONAN SYNDROME IN ADULTHOOD Wingbermuehle, E., et al., European Psychiatry, 2011. 26.
217. Duodenal Hematoma Complicating Upper Endoscopy with Biopsy in Two Pediatric Patients with Noonan's Syndrome: What Pediatric Gastroenterologists Need to Know Vortia, E., L. Mahajan, and B. Kaplan, American Journal of Gastroenterology, 2011. 106: p. S400-S400.
218. Atypical Orofacial Conditions in Noonan Syndrome: A Case Report Toureno, L. and J.H. Park, Journal of Clinical Pediatric Dentistry, 2011. 36(2): p. 197-202.
219. Noonan syndrome and myeloproliferative evolution: a functional evaluation of circulating hematopoietic progenitors Timeus, F., et al., International Journal of Molecular Medicine, 2011. 28: p. S34-S34.
220. Noonan syndrome and clinically related disorders Tartaglia, M., B.D. Gelb, and M. Zenker, Best Practice & Research Clinical Endocrinology & Metabolism, 2011. 25(1): p. 161-179.
221. Congenital absence of the superior oblique tendon in Noonan-neurofibromatosis syndrome Sugumaran, H.K., J.G. Pappas, and S.R. Kodsi, Journal of Aapos, 2011. 15(6): p. 593-594.
222. PTPN11 Testing in Patients with Suspected JMML: Unexpected finding of Noonan syndrome Slowther, K., et al., Journal of Medical Genetics, 2011. 48: p. S100-S100.
223. Prenatal hypertrophic cardiomyopathy and neonatal noonan syndrome: an association to remember Sanchez Andres, A., A. Moriano Gutierrez, and J.I. Carrasco Moreno, Revista espanola de cardiologia, 2011. 64(6): p. 537-8.
224. Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects Runtuwene, V., et al., Disease Models & Mechanisms, 2011. 4(3): p. 393-399.
225. Neurofibromatosis-Noonan syndrome: case report and clinicopathogenic review of the Neurofibromatosis-Noonan syndrome and RAS-MAPK pathway Reig, I., et al., Dermatology online journal, 2011. 17(4): p. 4-4.
226. Orbital Manifestations of Noonan Syndrome Randolph, J.C., et al., Ophthalmic Plastic and Reconstructive Surgery, 2011. 27(6): p. E160-E163.
227. INVOLVEMENT OF PERIPHERAL NERVOUS SYSTEM IN NOONAN SYNDROME Praline, J., et al., Journal of the Peripheral Nervous System, 2011. 16: p. S112-S113.
228. Lethal Presentation of Neurofibromatosis and Noonan Syndrome Prada, C.E., et al., American Journal of Medical Genetics Part A, 2011. 155A(6): p. 1360-1366.
229. Two cases of Noonan syndrome: aortic coarctation causing a giant aneurysm of the descending aorta Pac, M., et al., Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir, 2011. 39(7): p. 629-629.
230. Noonan Syndrome With Occipito-atlantal Dislocation and Upper Cervical Cord Compression Due to C1 Dysplasia and Basilar Invagination -Case Report Miyoshi, Y., T. Yasuhara, and I. Date, Neurologia Medico-Chirurgica, 2011. 51(6): p. 463-466.
231. SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, S.I.o.P.E., and Genotype-Phenotype Correlations Lepri, Francesca, et al., Human Mutation, 2011. 32(7): p. 760-772.
232. Mechanism for the learning deficit in mouse models of Noonan syndrome Lee, Y.S., et al., Society for Neuroscience Abstract Viewer and Itinerary Planner, 2011. 41.
233. Spectrum of Mutations in Noonan Syndrome and Their Correlation with Phenotypes Lee, B.H., et al., Journal of Pediatrics, 2011. 159(6): p. 1029-1035.
234. Cancer in Noonan, C., Cardiofaciocutaneous and LEOPARD Syndromes Kratz, Christian P., et al., American Journal of Medical Genetics Part C-Seminars in Medical Genetics, 2011. 157C(2): p. 83-89.
235. Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice Kraft, M., et al., Journal of Clinical Investigation, 2011. 121(9): p. 3479-3491.
236. Rosette forming glioneuronal tumor in association with Noonan syndrome: pathobiological implications Karafin, M., et al., Clinical Neuropathology, 2011. 30(6): p. 297-300.
237. The benefits of growth hormone therapy in patients with Turner syndrome, N.s.a.c.b.s.f.g.a.K., Anne-Marie and T. Laursen, Growth Hormone & Igf Research, 2011. 21(6): p. 305-313.
238. Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation Jongmans, M.C.J., et al., European Journal of Human Genetics, 2011. 19(8): p. 870-874.
239. Moyamoya Syndrome in a Child with Noonan Syndrome Hung, P.-C., H.-S. Wang, and A.M.C. Wong, Pediatric Neurology, 2011. 45(2): p. 129-131.
240. Survival Implications: Hypertrophic Cardiomyopathy in Noonan Syndrome Hickey, E.J., et al., Congenital Heart Disease, 2011. 6(1): p. 41-47.
241. Ectatic Coronary Arteries in Noonan Syndrome Gulati, G.S., et al., Texas Heart Institute Journal, 2011. 38(3): p. 318-319.
242. Noonan syndrome - a psychiatric curiosity? Graf, H., et al., Nervenheilkunde, 2011. 30(8): p. 563-568.
243. A case of Noonan's syndrome with anomalous lymphorenal communication Goli, S., V. Kandimalla, and O. Khan, JRSM short reports, 2011. 2(4): p. 33-33.
244. Co-Occurring SHOC2 and PTPN11 Mutations in a Patient With Severe/Complex Noonan Syndrome-Like Phenotype Ekvall, S., et al., American Journal of Medical Genetics Part A, 2011. 155A(6): p. 1217-1224.
245. Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromes Dhandapany, P.S., et al., Journal of Molecular and Cellular Cardiology, 2011. 51(1): p. 4-15.
246. A new "Rasopathy": Mutation in the CBL tumour-suppressor gene in neuro-cardio-facio-cutaneous syndrome similar to Noonan syndrome Dereure, O., Annales De Dermatologie Et De Venereologie, 2011. 138(1): p. 75-76.
247. A mother and son with Noonan syndrome resulting from a PTPN11 mutation Derbent, M., Turkish Journal of Pediatrics, 2011. 53(1): p. 117-117.
248. Aberrant lymphatic development in euploid fetuses with increased nuchal translucency including Noonan syndrome de Mooij, Y.M., et al., Prenatal Diagnosis, 2011. 31(2): p. 159-166.
249. Failure to thrive: A case of Noonan syndrome and Crohn's disease Colson, S. and E. Hoffenberg, Inflammatory Bowel Diseases, 2011. 17: p. S31-S32.
250. Heart Failure in a Patient With Noonan Syndrome Chevallier, S., S. Cook, and J.-J. Goy, Circulation, 2011. 123(23): p. E629-E630.
251. A case of Noonan Syndrome with coeliac disease due to SOS1 mutation Carcavilla Urqui, A., et al., Medicina Clinica, 2011. 137(14): p. 666-667.
252. PROPIONIC ACIDEMIA IN A MALE NEWBORN WITH NOONAN'S SYNDROME: CASE REPORT Bouet-Rivera, K., et al., Journal of Investigative Medicine, 2011. 59(2): p. 451-452.
253. Characteristics and outcome of hypertrophic cardiomyopathy in Noonan, C., and cardio-facio-cutaneous syndromes Bonnet, D., S. Lyonnet, and P. Vouhe, European Heart Journal, 2011. 32: p. 588-588.
254. A mother and son with Noonan syndrome resulting from a PTPN11 mutation Reply Bober, E. and K. Demir, Turkish Journal of Pediatrics, 2011. 53(1): p. 118-118.
255. Surgical management of unilateral rhegmatogenous retinal detachment associated with ocular coloboma in a 7-year-old child with Noonan syndrome Bastion, M.-L.C. and A.M.A. Qader, BMJ case reports, 2011. 2011.
256. Myeloproliferative Disorder in Noonan Syndrome Bastida, P., et al., Journal of Pediatric Hematology Oncology, 2011. 33(1): p. E43-E45.
257. Prenatal features of Noonan syndrome: prevalence and prognostic value Baldassarre, G., et al., Prenatal Diagnosis, 2011. 31(10): p. 949-954.
258. Targeted ultrasound examination and DNA testing for Noonan syndrome, i.f.w.i.n.t.a.n.k.B., M., et al., Prenatal Diagnosis, 2011. 31(9): p. 833-840.
259. Anesthetic considerations and difficult airway management in a case of Noonan syndrome Bajwa, S.J.S., et al., Saudi journal of anaesthesia, 2011. 5(3): p. 345-7.
260. Sudden death in a patient with Noonan syndrome Aydin, A., M.S. Yilmazer, and T. Gurol, Cardiology in the Young, 2011. 21(2): p. 233-234.
261. NEUROPATHOGENESIS OF NOONAN SYNDROME IS MEDIATED BY INFLAMMATORY MICROGLIA Antony, J.M., Translational Neuroscience, 2011. 2(4): p. 310-318.
262. Testicular size development and reproductive hormones in boys and adult males with Noonan syndrome: a longitudinal study Ankarberg-Lindgren, C., O. Westphal, and J. Dahlgren, European Journal of Endocrinology, 2011. 165(1): p. 137-144.
263. Visual Processing in Noonan Syndrome: Dorsal and Ventral Stream Sensitivity Alfieri, P., et al., American Journal of Medical Genetics Part A, 2011. 155A(10): p. 2459-2464.
264. Noonan syndrome: an anesthesiologist's perspective Aggarwal, V., et al., Annals of cardiac anaesthesia, 2011. 14(3): p. 214-7.
265. Mutation analysis of PTPN11 gene in Noonan syndrome Yang, T., et al., Zhonghua Yixue Yichuanxue Zazhi, 2010. 27(5): p. 554-558.
266. Neurobehavioural profile of Noonan syndrome Wingbermuhle, E., et al., Journal of Intellectual Disability Research, 2010. 54: p. 893-893.
267. Noonan syndrome: clinical aspects and molecular pathogenesis Tartaglia, M., G. Zampino, and B.D. Gelb, Molecular syndromology, 2010. 1(1): p. 2-26.
268. The DYSCERNE project has developed clinical management guidelines for Williams, A., Noonan and Kabuki syndromes Smith, Jill Clayton, et al., Journal of Medical Genetics, 2010. 47: p. S46-S46.
269. Noonan-like/multiple giant cell lesion syndrome in two adult patients with SOS1 gene mutations Slezak, R., et al., Clinical Dysmorphology, 2010. 19(3): p. 157-160.
270. Marathon of eponyms: 14 Noonan syndrome Scully, C., J. Langdon, and J. Evans, Oral Diseases, 2010. 16(8): p. 839-840.
271. 3NKX: Impaired binding of 14-3-3 to Raf1 is linked to Noonan and LEOPARD syndrome Schumacher, B., M. Weyand, and C. Ottmann, Worldwide Protein Data Bank, 2010.
272. First Report of New Oral Findings in a Case with Noonan Syndrome Sahebjamee, N., N.G. Ameri, and D.D. Farhud, Oral Diseases, 2010. 16(6): p. 572-572.
273. Noonan Syndrome: Clinical Features, D., and Management Guidelines Romano, Alicia A., et al., Pediatrics, 2010. 126(4): p. 746-759.
274. A retrospective phenotypic/genotypic analysis of patients with Noonan Syndrome in Northern Ireland Rea, G., et al., Journal of Medical Genetics, 2010. 47: p. S54-S54.
275. Mitochondrial DNA haplogroup 'R' is associated with Noonan syndrome of South India Rani, D.S., et al., Mitochondrion, 2010. 10(2): p. 166-173.
276. MULTIPLE GRANULAR CELL TUMORS IN A CHILD WITH NOONAN SYNDROME Ramaswamy, P.V., et al., Pediatric Dermatology, 2010. 27(2): p. 209-211.
277. Hipoacusia neurosensorial en un síndrome de Noonan y secuencia Poland Quintero Noa, J.L., et al., Revista Cubana de Pediatría, 2010. 82(3): p. 62-68.
278. Defining the Cardiovascular Genotype-Phenotype Correlations in Noonan Syndrome Prendiville, T.W., et al., Circulation, 2010. 122(21).
279. The Language Phenotype of Children and Adolescents With Noonan Syndrome Pierpont, E.I., et al., Journal of Speech Language and Hearing Research, 2010. 53(4): p. 917-932.
280. Effects of Germ line Mutations in the Ras/MAPK Signaling Pathway on Adaptive Behavior: Cardiofaciocutaneous Syndrome and Noonan Syndrome Pierpont, E.I., et al., American Journal of Medical Genetics Part A, 2010. 152A(3): p. 591-600.
281. Doença celíaca associada à tireoidite de Hashimoto e síndrome de Noonan Perez, M.O., et al., Revista Paulista de Pediatria, 2010. 28(4): p. 398-404.
282. Images in haematology. Noonan syndrome associated with bleeding disorders Patrick, K. and M. Makris, British journal of haematology, 2010. 151(2): p. 117-117.
283. Sustained cytokinemia and chemokinemia concomitant with juvenile myelomonocytic leukemia in an infant with Noonan syndrome Okazaki, K., et al., Leukemia Research, 2010. 34(9): p. E226-E228.
284. Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis Nystrom, A.-M., et al., European Journal of Medical Genetics, 2010. 53(3): p. 117-121.
285. Mechanism of action of Noonan syndrome-associated Raf mutation Neel, B.G., et al., Endocrine Journal, 2010. 57: p. S301-S301.
286. Behavioral disturbances in Noonan Syndrome: Brazilian preliminary data Mota, E.R., et al., Revista Latinoamericana De Psicologia, 2010. 42(1): p. 87-95.
287. Impaired Binding of 14-3-3 to C-RAF in Noonan Syndrome Suggests New Approaches in Diseases with Increased Ras Signaling Molzan, M., et al., Molecular and Cellular Biology, 2010. 30(19): p. 4698-4711.
288. ANOPTHALMIA AND DYSEMBRYOPLASTIC NEUROEPITHELIAL TUMOURS IN A FAMILY WITH NOONAN SYNDROME AND A NOVEL PTPN11 MUTATION Mir, R., et al., Journal of Neurology Neurosurgery and Psychiatry, 2010. 81(11): p. E35-E35.
289. Imbalance of Plasminogen Activator Inhibitor Type-1 (PAI-1) and Tissue Plasminogen Activator (t-PA) Activity in Patients With Noonan Syndrome Mehta, P. and R.I. Parker, Journal of Pediatric Hematology Oncology, 2010. 32(7): p. 532-536.
290. Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype Martinelli, S., et al., American Journal of Human Genetics, 2010. 87(2): p. 250-257.
291. Pre- and Postnatal Growth Pattern in Noonan Syndrome (NS) Patients According to PTPN11, S.a.R.G.M., A. C., et al., Endocrine Reviews, 2010. 31(3).
292. Noonan Syndrome Associated With Both a New Jnk-Activating Familial SOS1 and a De Novo RAF1 Mutations Longoni, M., et al., American Journal of Medical Genetics Part A, 2010. 152A(9): p. 2176-2184.
293. High resolution melting analysis for mutation detection for PTPN11 gene: Applications of this method for diagnosis of Noonan syndrome (vol 409, p., 2009) Lo, Fu-Sung, et al., Clinica Chimica Acta, 2010. 411(3-4): p. 297-297.
294. Noonan syndrome and systemic lupus erythematosus in a patient with a novel KRAS mutation Leventopoulos, G., et al., Clinical and Experimental Rheumatology, 2010. 28(4): p. 556-557.
295. Learning and cellular deficits in mouse models of Noonan syndrome Lee, Y.S., et al., Society for Neuroscience Abstract Viewer and Itinerary Planner, 2010. 40.
296. Novel occurrence of microcystic lymphatic malformation and linear port-wine stain in patients with Noonan syndrome Lee, W.J., et al., International Journal of Dermatology, 2010. 49(2): p. 232-233.
297. Treatment Response of Growth Hormone (GH) in Children with Noonan Syndrome: Results from the ANSWER Program (R) Lee, P., et al., Endocrine Reviews, 2010. 31(3).
298. A suggested role for mitochondria in Noonan syndrome Lee, I., et al., Biochimica Et Biophysica Acta-Molecular Basis of Disease, 2010. 1802(2): p. 275-283.
299. Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies Komatsuzaki, S., et al., Journal of Human Genetics, 2010. 55(12): p. 801-809.
300. Molecular and Clinical Analysis of RAF1 in Noonan Syndrome and Related Disorders: Dephosphorylation of Serine 259 as the Essential Mechanism for Mutant Activation Kobayashi, T., et al., Human Mutation, 2010. 31(3): p. 284-294.
301. Noonan Syndrome, t.S.G.a.E.R.J., Marjolijn C. J., et al., Genes Chromosomes & Cancer, 2010. 49(7): p. 635-641.
302. EMBRYONAL RHABDOMYOSARCOMA IN A PATIENT WITH NOONAN SYNDROME AND A SOS1 GERMLINE MUTATION Jongmans, M., et al., Cellular Oncology, 2010. 32(3): p. 195-195.
303. PTPN11 Mutation Associated with Aortic Dilation and Hypertrophic Cardiomyopathy in a Pediatric Patient with Noonan Syndrome Jefferies, J.L., et al., Pediatric Cardiology, 2010. 31(1): p. 114-116.
304. Noonan Syndrome: A case report Ierardo, G., et al., European Journal of Paediatric Dentistry, 2010. 11(2): p. 97-100.
305. Percutaneous pulmonary valvuloplasty and atrial septal defect closure in a 69-year-old patient with Noonan's syndrome Hulselmans, M. and E. Benit, Acta Cardiologica, 2010. 65(1): p. 89-92.
306. Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes Houweling, A.C., et al., Prenatal Diagnosis, 2010. 30(3): p. 284-286.
307. A patient with Noonan syndrome and a late-onset leg lymphedema Hernandez-Garcia, E., et al., Swiss Medical Weekly, 2010. 140(21-22): p. 16S-17S.
308. Pulmonary Stenosis as a Predisposing Factor for Infective Endocarditis in a Patient with Noonan Syndrome Hatemi, A.C., et al., Texas Heart Institute Journal, 2010. 37(1): p. 99-101.
309. A Further Patient with Noonan Syndrome Due to a SOS1 Mutation and Rhabdomyosarcoma Hastings, R., et al., Genes Chromosomes & Cancer, 2010. 49(10): p. 967-968.
310. Mutational analysis of SHOC2, a.n.g.f.N.-l.s., in JMML Flotho, Christian, et al., Blood, 2010. 115(4): p. 913-913.
311. Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I Fabretto, A., et al., European Journal of Medical Genetics, 2010. 53(5): p. 322-324.
312. Noonan Syndrome, M.S.a.S.-i.-t.-Y.C., Causal or Contribution? Eu-Ahsunthornwattana, Jakris, et al., Journal of the Medical Association of Thailand, 2010. 93(9): p. 1084-1087.
313. Germinal Mosaicism in Noonan Syndrome: A Family With Two Affected Siblings of Normal Parents Elalaoui, S.C., et al., American Journal of Medical Genetics Part A, 2010. 152A(11): p. 2850-2853.
314. Coinheritance of Noonan syndrome and Becker muscular dystrophy Dinopoulos, A., et al., Neuromuscular Disorders, 2010. 20(1): p. 61-63.
315. An Unusual Cardiac Defect in a Patient with Clinical Features Overlapping Between Cardiofaciocutaneous and Noonan Syndromes DeSena, H.C., et al., Congenital Heart Disease, 2010. 5(1): p. 70-75.
316. Clinical and Hematologic Findings in Noonan Syndrome Patients With PTPN11 Gene Mutations Derbent, M., et al., American Journal of Medical Genetics Part A, 2010. 152A(11): p. 2768-2774.
317. Tumor Spectrum in Children With Noonan Syndrome and SOS1 or RAF1 Mutations Denayer, E., et al., Genes Chromosomes & Cancer, 2010. 49(3): p. 242-252.
318. A mother and son with Noonan syndrome resulting from a PTPN11 mutation: first report of molecularly proven cases from Turkey Demir, K., et al., Turkish Journal of Pediatrics, 2010. 52(3): p. 321-324.
319. A restricted spectrum of NRAS mutations causes Noonan syndrome Cirstea, I.C., et al., Nature Genetics, 2010. 42(1): p. 27-29.
320. Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome-associated Sos1 mutation Chen, P.-C., et al., Journal of Clinical Investigation, 2010. 120(12): p. 4353-4365.
321. Noonan syndrome: Prenatal diagnosis in a woman carrying a PTPN11 gene mutation Celia Gonzalez-Huerta, N., et al., Journal of Maternal-Fetal & Neonatal Medicine, 2010. 23(7): p. 688-691.
322. Giant cell lesions in noonan syndrome: case report and review of the literature Bufalino, A., et al., Head and neck pathology, 2010. 4(2): p. 174-7.
323. PTPN11 and KRAS Gene Analysis in Patients with Noonan and Noonan-Like Syndromes Brasil, A.S., et al., Genetic Testing and Molecular Biomarkers, 2010. 14(3): p. 425-432.
324. Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? Brasil, A.S., et al., Arquivos Brasileiros De Endocrinologia E Metabologia, 2010. 54(8): p. 717-722.
325. Successful Ocreotide and Medium-Chain Triglyceride Therapy for Cylothorax in a Patient with Noonan Syndrome: Case Report Beder, S., et al., Turkiye Klinikleri Tip Bilimleri Dergisi, 2010. 30(4): p. 1402-1405.
326. Unusual Cardiac Phenotype in a Newborn with Noonan Syndrome Aypar, E., et al., Congenital Heart Disease, 2010. 5(2): p. 178-181.
327. ARRHYTHMOGENIC CARDIOMYOPATHY IN A PATIENT WITH NOONAN SYNDROME Altamirano, E. and R. Drut, Fetal and Pediatric Pathology, 2010. 29(3): p. 158-164.
328. The Face of Noonan Syndrome: Does Phenotype Predict Genotype Allanson, J.E., et al., American Journal of Medical Genetics Part A, 2010. 152A(8): p. 1960-1966.
329. Negative Regulation of Stat3 by Activating PTPN11 Mutants Contributes to the Pathogenesis of Noonan Syndrome and Juvenile Myelomonocytic Leukemia Zhang, W., et al., Journal of Biological Chemistry, 2009. 284(33): p. 22353-22363.
330. Genetic and Pathogenetic Aspects of Noonan Syndrome and Related Disorders Zenker, M., Hormone Research, 2009. 72: p. 57-63.
331. Molecular Characterization of a Balanced Rearrangement of Chromosome 12 in Two Siblings With Noonan Syndrome Yatsenko, S.A., et al., American Journal of Medical Genetics Part A, 2009. 149A(12): p. 2723-2730.
332. Growing News on Noonan and Related Syndromes Woelfle, J. and B.P. Hauffa, Hormone Research, 2009. 72: p. 1-2.
333. Neuropsychological and Behavioral Aspects of Noonan Syndrome Wingbermuhle, E., et al., Hormone Research, 2009. 72: p. 15-23.
334. Growth Hormone Therapy in Noonan Syndrome: Growth Response and Characteristics Westphal, O., Hormone Research, 2009. 72: p. 41-45.
335. Noonan Syndrome/Leukemia-associated Gain-of-function Mutations in SHP-2 Phosphatase (PTPN11) Enhance Cell Migration and Angiogenesis Wang, S., et al., Journal of Biological Chemistry, 2009. 284(2): p. 913-920.
336. SUBSTRATE PROFILING OF NOONAN SYNDROME MUTANTS OF PROTEIN TYROSINE PHOSPHATASE SHP-2 Waller, T. and D. Pei, Biopolymers, 2009. 92(4): p. 339-339.
337. Independent NF1 and PTPN11 Mutations in a Family With Neurofibromatosis-Noonan Syndrome Thiel, C., et al., American Journal of Medical Genetics Part A, 2009. 149A(6): p. 1263-1267.
338. Molecular Genetics of Noonan Syndrome Tartaglia, M. and B.D. Gelb, in Noonan Syndrome and Related Disorders: A Matter of Deregulated Ras Signaling, M. Zenker, Editor. 2009. p. 20-39.
339. A case of Noonan syndrome and Whipple's disease in the same patient Sundip, S.K., et al., World Journal of Gastroenterology, 2009. 15(12): p. 1524-1527.
340. Probable Noonan syndrome in a boy without PTPN11 mutation, m.u.c.S., Muneichiro, et al., Pediatrics International, 2009. 51(1): p. 138-140.
341. FREE LATISSIMUS DORSI FLAP WITH LONG VENOUS GRAFTS FOR CLOSURE OF A SOFT TISSUE DEFECT OF THE SPINE IN A PATIENT WITH NOONAN'S SYNDROME: A CASE REPORT Sinis, N., et al., Microsurgery, 2009. 29(6): p. 486-489.
342. Primary Mixed Glioneuronal Tumor of the Central Nervous System in a Patient With Noonan Syndrome A Case Report and Review of the Literature Sherman, C.B., et al., Journal of Pediatric Hematology Oncology, 2009. 31(1): p. 61-64.
343. 3CU8: Impaired binding of 14-3-3 to Raf1 is linked to Noonan and LEOPARD syndrome Schumacher, B., et al., Worldwide Protein Data Bank, 2009.
344. Pilocytic Astrocytoma in a Child With Noonan Syndrome Schuettpelz, L.G., et al., Pediatric Blood & Cancer, 2009. 53(6): p. 1147-1149.
345. Bilateral cochlear implantation in children with Noonan syndrome Scheiber, C., et al., International Journal of Pediatric Otorhinolaryngology, 2009. 73(6): p. 889-894.
346. Abnormal growth in noonan syndrome: the challenge of optimal therapy Savage, M.O., et al., Pediatric endocrinology reviews : PER, 2009. 6 Suppl 4: p. 523-8.
347. Genotype-Phenotype Correlations in Noonan Syndrome Sarkozy, A., et al., in Monographs in Human Genetics, M. Zenker, Editor. 2009. p. 40-54.
348. Germline BRAF Mutations in Noonan, L., and Cardiofaciocutaneous Syndromes: Molecular Diversity and Associated Phenotypic Spectrum Sarkozy, Anna, et al., Human Mutation, 2009. 30(4): p. 695-702.
349. Growth Response, N.-A.H., and Patterns of Growth and Puberty in Patients with Noonan Syndrome Treated with Growth Hormone Romano, Alicia A., et al., Journal of Clinical Endocrinology & Metabolism, 2009. 94(7): p. 2338-2344.
350. Noonan Syndrome: Introduction and Basic Clinical Features Rohrer, T., Hormone Research, 2009. 72: p. 3-7.
351. Noonan Syndrome: Growth to Growth Hormone - The Experience of Observational Studies Ranke, M.B., Hormone Research, 2009. 72: p. 36-40.
352. Growth hormone therapy in Noonan and Silver Russell syndrome: relationships between genotype and growth in our experience Pozzobon, G., et al., Hormone Research, 2009. 72: p. 262-262.
353. Síndrome de Noonan: Presentación de dos casos Pons Castro, L., et al., Revista Cubana de Oftalmología, 2009. 22(1): p. 0-0.
354. Genotype differences in cognitive functioning in Noonan syndrome Pierpont, E.I., et al., Genes Brain and Behavior, 2009. 8(3): p. 275-282.
355. Growth in Noonan Syndrome Otten, B.J. and C. Noordam, Hormone Research, 2009. 72: p. 31-35.
356. Effects of growth hormone treatment in Noonan syndrome - case report Obara-Moszynska, M., et al., Hormone Research, 2009. 72: p. 491-491.
357. A severe form of Noonan syndrome and autosomal dominant cafE-au-lait spots - evidence for different genetic origins Nystrom, A.-M., et al., Acta Paediatrica, 2009. 98(4): p. 693-698.
358. Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1 Nystrom, A.M., et al., Clinical Genetics, 2009. 76(6): p. 524-534.
359. Growth Hormone and the Heart in Noonan Syndrome Noordam, C., Hormone Research, 2009. 72: p. 49-51.
360. History of Noonan Syndrome and Related Disorders Noonan, J.A., in Monographs in Human Genetics, M. Zenker, Editor. 2009. p. 1-8.
361. Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome Neumann, T.E., et al., European Journal of Human Genetics, 2009. 17(4): p. 420-425.
362. Noonan syndrome with atrial septal defect and hypertrophic cardiomyopathy Nakayama, M., et al., Kyobu geka. The Japanese journal of thoracic surgery, 2009. 62(7): p. 535-7.
363. Noonan syndrome is associated with enhanced pERK activity, t.r.o.w.c.p.c.m.N., Tomoki, et al., Proceedings of the National Academy of Sciences of the United States of America, 2009. 106(36): p. 15436-15441.
364. The G allele at KRAS IVS4+92 is associated with higher frequency of congenital heart disease and severity of short stature in Noonan syndrome patients with PTPN11 mutations Malaquias, A.C., et al., Hormone Research, 2009. 72: p. 462-462.
365. Aggressive Noonan-Like Multiple Giant Cell Lesion Syndrome on Tc-99m MDP Bone Scan Makis, W. and R. Lambert, Clinical Nuclear Medicine, 2009. 34(12): p. 913-915.
366. High resolution melting analysis for mutation detection for PTPN11 gene: Applications of this method for diagnosis of Noonan syndrome Lo, F.-S., et al., Clinica Chimica Acta, 2009. 409(1-2): p. 75-77.
367. Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature Lo, F.-S., et al., European Journal of Pediatrics, 2009. 168(8): p. 919-923.
368. Noonan syndrome associated with systemic lupus erythematosus Lisbona, M.P., et al., Lupus, 2009. 18(3): p. 267-269.
369. Coronary myocardial bridging in Noonan syndrome: definitive diagnosis with high-resolution CT Leye, M., et al., The British journal of radiology, 2009. 82(973): p. e8-10.
370. Mouse models of Noonan syndrome reveal cognitive deficits Lee, Y.S., et al., Society for Neuroscience Abstract Viewer and Itinerary Planner, 2009. 39.
371. PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings Lee, K.A., et al., Clinical Genetics, 2009. 75(2): p. 190-194.
372. Craniosynostosis in Patients With Noonan Syndrome Caused by Germline KRAS Mutations Kratz, C.P., et al., American Journal of Medical Genetics Part A, 2009. 149A(5): p. 1036-1040.
373. Myeloproliferative Disease and Cancer in Persons with Noonan Syndrome and Related Disorders Kratz, C., in Noonan Syndrome and Related Disorders: A Matter of Deregulated Ras Signaling, M. Zenker, Editor. 2009. p. 119-127.
374. Noonan Syndrome: The Hypothalamo-Adrenal and Hypothalamo-Gonadal Axes Kelnar, C.J.H., Hormone Research, 2009. 72: p. 24-30.
375. A case of Noonan syndrome and Whipple's disease in the same patient Karsan, S.S., et al., World Journal of Gastroenterology, 2009. 15(12): p. 1524-1527.
376. Noonan Syndrome and Related Disorders: A Review of Clinical Features and Mutations in Genes of the RAS/MAPK Pathway Jorge, A.A.L., et al., Hormone Research, 2009. 71(4): p. 185-193.
377. Jinlan, N.s.a.c.r.a.l.r.C., et al., Journal of Central South University. Medical Sciences, 2009. 34(12): p. 1261-1265.
378. GNAI2 and regulators of G protein signaling as a potential Noonan syndrome mechanism Huang, X., et al., Medical Hypotheses, 2009. 73(1): p. 56-59.
379. PTPN11, S., KRAS and RAF: genotype-phenotype correlations in Noonan syndrome Heredia, Claudia E., et al., Hormone Research, 2009. 72: p. 317-317.
380. Malignant Diseases in Noonan Syndrome and Related Disorders Hasle, H., Hormone Research, 2009. 72: p. 8-14.
381. Late-onset Lymphedema and Protein-losing Enteropathy with Noonan Syndrome Hasegawa, K., et al., Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 2009. 18(3): p. 87-93.
382. SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome Hanna, N., et al., Clinical Genetics, 2009. 75(6): p. 568-571.
383. Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association Gupta, A., et al., Clinical and Experimental Nephrology, 2009. 13(5): p. 531-532.
384. Genomic Duplication of PTPN11 Is an Uncommon Cause of Noonan Syndrome Graham, J.M., Jr., et al., American Journal of Medical Genetics Part A, 2009. 149A(10): p. 2122-2128.
385. Chronic scrotal lymphedema, a.f.m.a.s.s.N.S.F., M., et al., Journal Der Deutschen Dermatologischen Gesellschaft, 2009. 7: p. 259-259.
386. Noonan syndrome: a case report Emral, M.E. and M.O. Akcam, Journal of oral science, 2009. 51(2): p. 301-6.
387. Neurofibromatosis Type 1-Noonan Syndrome: What's the Link? Denayer, E. and E. Legius, in Monographs in Human Genetics, M. Zenker, Editor. 2009. p. 128-137.
388. Mutation analysis of a mother and son with Noonan syndrome: first report from Turkey Demir, K., et al., Hormone Research, 2009. 72: p. 499-499.
389. Bilateral undescended testes - the main reason for impaired male fertility in Noonan syndrome? Dahlgren, J., C. Ankarberg-Lindgren, and O. Westphal, Hormone Research, 2009. 72: p. 431-431.
390. GH Therapy in Noonan Syndrome: Review of Final Height Data Dahlgren, J., Hormone Research, 2009. 72: p. 46-48.
391. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair Cordeddu, V., et al., Nature Genetics, 2009. 41(9): p. 1022-U95.
392. Linear growth according to the genotype of patients with Noonan syndrome Cisternino, M., et al., Hormone Research, 2009. 72: p. 315-315.
393. Noonan syndrome: a case report and literature review Chen, J., et al., Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 2009. 34(12): p. 1261-5.
394. GENETIC EVALUATION AND MANAGEMENT OF FETAL CHYLOTHORAX: REVIEW AND INSIGHTS FROM A CASE OF NOONAN SYNDROME Chen, C.H., et al., Lymphology, 2009. 42(3): p. 134-138.
395. Five patients with suggestive Noonan-related syndromes and atypical molecular findings Carcavilla, A., et al., Hormone Research, 2009. 72: p. 314-314.
396. Case report: Noonan syndrome in a patient with two novel heterozygous substitutions of neighboring nucleotides in the PTPN11 gene Broussard, J.R., C.J. Saunders, and F. Ugrasbul, Hormone Research, 2009. 72: p. 313-313.
397. Endocrine Regulation of Growth and Short Stature in Noonan Syndrome Binder, G., in Monographs in Human Genetics, M. Zenker, Editor. 2009. p. 104-108.
398. Noonan Syndrome, t.R.-M.S.P.a.S.S.B., Gerhard, Hormone Research, 2009. 71: p. 64-70.
399. Response to Growth Hormone in Short Children with Noonan Syndrome: Correlation to Genotype Binder, G., Hormone Research, 2009. 72: p. 52-56.
400. SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions Beneteau, C., et al., European Journal of Human Genetics, 2009. 17(10): p. 1216-1221.
401. Animal Models for Noonan Syndrome and Related Disorders Araki, T. and B.G. Neel, in Monographs in Human Genetics, M. Zenker, Editor. 2009. p. 138-150.
402. Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation Araki, T., et al., Proceedings of the National Academy of Sciences of the United States of America, 2009. 106(12): p. 4736-4741.
403. The Clinical Phenotype of Noonan Syndrome Allanson, J.E., in Monographs in Human Genetics, M. Zenker, Editor. 2009. p. 9-19.
404. Candida albicans Meningitis in an Infant with Noonan Syndrome Ahmadi, F., et al., Brazilian Journal of Infectious Diseases, 2009. 13(6): p. 452-453.
405. Signaling, N.S.a.R.D.A.M.o.D.R., in Noonan Syndrome and Related Disorders: A Matter of Deregulated Ras Signaling, M. Zenker and M. Zenker, Editors. 2009.
406. Familial Noonan Syndrome Confirmed by PTPN11 Gene Test 김유석, et al., Annals of Pediatirc Endocrinology & Metabolism, 2008. 13(1): p. 117-121.
407. Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation Yoshida, R., et al., Pediatric Blood & Cancer, 2008. 50(6): p. 1274-1276.
408. Noonan syndrome: Psychopathology and cognitive functioning Verhoeven, W.M., et al., European Psychiatry, 2008. 23: p. S331-S331.
409. Noonan syndrome: Psychological and psychiatric aspects Verhoeven, W., et al., American Journal of Medical Genetics Part A, 2008. 146A(2): p. 191-196.
410. Noonan, C.a.c.-f.-c.s.d.o.t.R.-M.p.T., William E. and K.A. Rauen, Expert Reviews in Molecular Medicine, 2008. 10: p. 1-21.
411. The use of alexithymia scales in patients with Noonan Syndrome Theunissen, H., et al., European Psychiatry, 2008. 23: p. S332-S332.
412. SOSI mutations are rare in human malignancies: Implications for Noonan syndrome patients Swanson, K.D., et al., Genes Chromosomes & Cancer, 2008. 47(3): p. 253-259.
413. The Association Between SHP-2 Mutations and Platelet Function in Noonan Syndrome Stoffman, J.M., et al., Blood, 2008. 112(11): p. 450-450.
414. Percutaneous transluminal septal myocardial ablation in a child with hypertrophic obstructive cardiomyopathy and Noonan syndrome Singh, H., et al., Congenital heart disease, 2008. 3(5): p. 347-51.
415. Granular cell tumor of the scrotum in a child with Noonan syndrome Sidwell, R.U., et al., Pediatric Dermatology, 2008. 25(3): p. 341-343.
416. Expanding Phenotypes of Noonan Syndrome Short, J., et al., Journal of Medical Genetics, 2008. 45: p. S81-S81.
417. Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome Shchelochkov, O.A., et al., American Journal of Medical Genetics Part A, 2008. 146A(8): p. 1042-1048.
418. SOS1 mutation: a new cause of Noonan syndrome Serrano-Martin, M.M., et al., Anales de pediatria (Barcelona, Spain : 2003), 2008. 68(4): p. 365-8.
419. First Report of New Oral Findings in a Case with Noonan Syndrome Sahebjamee, M., N.G. Ameri, and D.D. Farhud, Iranian Journal of Public Health, 2008. 37(4): p. 131-137.
420. Costello-Syndrome: a rare differential diagnosis of Noonan-Syndrome in congenital hypertropic cardiomyopathy Ruf, B., et al., Clinical Research in Cardiology, 2008. 97(9): p. 692-692.
421. Bile duct anomalies in a male child with Noonan syndrome: A case for ras and notch pathway synergism Rasmussen, K.J., et al., American Journal of Medical Genetics Part A, 2008. 146A(2): p. 261-263.
422. Are ECG abnormalities in Noonan syndrome characteristic for the syndrome? Raaijmakers, R., et al., European Journal of Pediatrics, 2008. 167(12): p. 1363-1367.
423. Response to growth hormone treatment and final height in Noonan syndrome in a large cohort of patients in the KIGS database Raaijmakers, R., et al., Journal of Pediatric Endocrinology & Metabolism, 2008. 21(3): p. 267-273.
424. Prevalence of Noonan Syndrome in adult patients with Primary Left Ventricular Hypertrophy Pereiro, G., et al., Circulation, 2008. 118(12): p. E298-E298.
425. Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, n.-r.-t.P., C. Noordam P. G. M., et al., European Journal of Endocrinology, 2008. 159(3): p. 203-208.
426. Abnormal growth in Noonan syndrome: Genetic and endocrine features and optimal treatment Padidela, R., et al., Hormone Research, 2008. 70(3): p. 129-136.
427. Orofacial aspects in Noonan syndrome: 2 case report Ortega, A.d.O.L., et al., Journal of dentistry for children (Chicago, Ill.), 2008. 75(1): p. 85-90.
428. Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders Nystrom, A.M., et al., Journal of Medical Genetics, 2008. 45(8): p. 500-506.
429. Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, n.-r.-t.N., C., et al., European journal of endocrinology / European Federation of Endocrine Societies, 2008. 159(3): p. 203-8.
430. No reason yet to change diagnostic criteria for Noonan, C.a.c.-f.-c.s.N., G., J. Allanson, and M.I. Kavamura, Journal of Medical Genetics, 2008. 45(12): p. 832-832.
431. Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome Narumi, Y., et al., Journal of Human Genetics, 2008. 53(9): p. 834-841.
432. Different Role Of Shp2 Mutants In Cardiomyocyte Hypertrophy In Noonan/leopard Syndrome Spectrum Narita, J., et al., Circulation, 2008. 118(18): p. S333-S333.
433. Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors Mutesa, L., et al., Cancer Genetics and Cytogenetics, 2008. 182(1): p. 40-42.
434. Giant cell aortitis and Noonan syndrome Menon, S., M.E. Pierpont, and D. Driscoll, Congenital heart disease, 2008. 3(4): p. 291-4.
435. Pigmented Villonodular Synovitis in a Patient With Noonan Syndrome and SOS1 Gene Mutation Mascheroni, E., et al., American Journal of Medical Genetics Part A, 2008. 146A(22): p. 2966-2967.
436. Diverse driving forces underlie the invariant occurrence of the T42A, E.D., I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes Martinelli, Simone, et al., Human Molecular Genetics, 2008. 17(13): p. 2018-2029.
437. Impaired Sertoli Cell Function in Males Diagnosed with Noonan Syndrome Marcus, K.A., et al., Journal of Pediatric Endocrinology & Metabolism, 2008. 21(11): p. 1079-1084.
438. Noonan syndrome: from phenotype to growth hormone therapy Malaquias, A.C., et al., Arquivos Brasileiros De Endocrinologia E Metabologia, 2008. 52(5): p. 800-808.
439. Mutational analysis of PTPN11 and KRAS genes in Taiwanese children with Noonan syndrome Lo, F.-S., et al., Pediatrics, 2008. 121: p. S116-S117.
440. Hodgkin's lymphoma in a patient with Noonan syndrome with germ-line PTPN11 mutations Lo, F.-S., et al., International Journal of Hematology, 2008. 88(3): p. 287-290.
441. Use of human androgen receptor gene analysis to aid the diagnosis of JMML in female Noonan syndrome patients Lavin, V.A., et al., Pediatric Blood & Cancer, 2008. 51(2): p. 298-302.
442. Role of ERK1/2 signaling in congenital valve malformations in Noonan syndrome Krenz, M., et al., Proceedings of the National Academy of Sciences of the United States of America, 2008. 105(48): p. 18930-18935.
443. PTPN11, S., KRAS, and RAF1 Gene Analysis, and Genotype-Phenotype Correlation, in Korean Patients with Noonan Syndrome Ko, Jung Min, J.-M. Kim, and H.-W. Yoo, Hormone Research, 2008. 70: p. 18-18.
444. PTPN11, S., KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome Ko, Jung Min, et al., Journal of Human Genetics, 2008. 53(11-12): p. 999-1006.
445. Variability in clinical expression of Noonan syndrome--the report of two familial cases Klapecki, J., et al., Wiadomosci lekarskie (Warsaw, Poland : 1960), 2008. 61(1-3): p. 74-81.
446. Spontaneous Resolution of Cystic Hygroma and Hydrops in a Fetus with Noonan's Syndrome Kiyota, A., et al., Fetal Diagnosis and Therapy, 2008. 24(4): p. 499-502.
447. A case of Noonan syndrome with mitral regurgitation - rapid dilatation of left ventricle and left atrium without heart failure Ikida, S., et al., Journal of Cardiac Failure, 2008. 14(7): p. S159-S159.
448. Diagnosis and Management Challenges of Noonan Syndrome Horikawa, R., R. Yoshida, and T. Ogata, Hormone Research, 2008. 70: p. 6-6.
449. Methods for diagnosing Noonan syndrome Gelb, B.D. and M. Tartaglia. 2008, Mt Sinai School of Medicine of New York University.
450. Tumor development in three patients with Noonan syndrome Fryssira, H., et al., European Journal of Pediatrics, 2008. 167(9): p. 1025-1031.
451. Clinical and molecular characterization of 40 patients with Noonan syndrome Ferrero, G.B., et al., European Journal of Medical Genetics, 2008. 51(6): p. 566-572.
452. Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients Ferreira, L.V., et al., Clinical Endocrinology, 2008. 69(3): p. 426-431.
453. Noonan syndrome-associated SHP-2/Ptpn11 mutants enhance SIRP alpha and PZR tyrosyl phosphorylation and promote adhesion-mediated ERK activation Eminaga, S. and A.M. Bennett, Journal of Biological Chemistry, 2008. 283(22): p. 15328-15338.
454. Parotitis and Kawasaki disease in a child with Noonan syndrome Douvoyiannis, M., P.F. Belamarich, and N. Litman, Pediatric Infectious Disease Journal, 2008. 27(1): p. 89-90.
455. New findings in Noonan syndrome and Leopard syndrome: Activating mutations in RAF-1 and SOS-1 Dereure, O., Annales De Dermatologie Et De Venereologie, 2008. 135(8-9): p. 624-625.
456. The GH/IGF-I axis in children with Noonan syndrome compared to girls with Turner syndrome Dahlgren, J., et al., Hormone Research, 2008. 70: p. 78-78.
457. Electrocardiography in Noonan syndrome PTPN11 gene mutation - phenotype characterization Croonen, E.A., et al., American Journal of Medical Genetics Part A, 2008. 146A(3): p. 350-353.
458. Mutation analysis in a group of patients with Noonan syndrome, n.m.i.i.S.C., Mariangela, et al., Hormone Research, 2008. 70: p. 42-42.
459. Usefulness of lymphoscintigraphy in demonstrating lymphedema in patients with Noonan syndrome Cheng, M.-F., et al., Clinical Nuclear Medicine, 2008. 33(3): p. 226-227.
460. Noonan syndrome. A review Cesur Aydin, K. and I. Ozcan, Minerva pediatrica, 2008. 60(3): p. 343-6.
461. syndromes Cerrato, Fablana, A.s.e.a.t.D.s.o.m.a.f.f.i.c.w.h.c.c.t.t.w.l.v.h.i.t.s.o.N.a.L., et al., Cardiology in the Young, 2008. 18(6): p. 575-580.
462. From Noonan syndrome to juvenile myelomonocytic leukemia Cave, H., et al., Archives De Pediatrie, 2008. 15(5): p. 812-813.
463. Noonan's syndrome and growth hormone treatment Castinetti, F., R. Reynaud, and T. Brue, Annales D Endocrinologie, 2008. 69: p. S2-S5.
464. Pulmonary artery aneurysm as a cause for chest pain in a patient with Noonan's syndrome: A case report Brown, J.R. and G. Plotnick, Cardiology, 2008. 110(4): p. 249-251.
465. An unusual presentation of Noonan syndrome with hypertrophic myocardiopathy: Mutation in the gene RAF1 Arriazu, M., et al., Hormone Research, 2008. 70: p. 24-24.
466. Visual Function in Noonan and LEOPARD Syndrome Alfieri, P., et al., Neuropediatrics, 2008. 39(6): p. 335-340.
467. SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome Zenker, M., et al., Journal of Medical Genetics, 2007. 44(10): p. 651-656.
468. Psychopathology and social cognition in 10 patients with Noonan syndrome Wingbermuehle, P.A.M., et al., European Neuropsychopharmacology, 2007. 17: p. S303-S303.
469. Outcomes in children with Noonan syndrome and cardiomyopathy Wilkinson, J.D., et al., Circulation, 2007. 116(16): p. 513-513.
470. Functional evaluation of hemopoeitic circulating progenitor in patients with Noonan syndrome Timeus, F., et al., Haematologica-the Hematology Journal, 2007. 92(6): p. 32-33.
471. Genetics of Noonan syndrome - a new gene, a.t.s.i.s.o.S., R. A., Clinical Genetics, 2007. 72(5): p. 402-404.
472. Photo essay - Noonan syndrome Sommer, A., American Journal of Medical Genetics Part C-Seminars in Medical Genetics, 2007. 145C(3): p. 273-273.
473. An audit of the first five years of a diagnostic service for Noonan/LEOPARD Syndrome Short, J., R. Poh, and R. Taylor, Journal of Medical Genetics, 2007. 44: p. S83-S83.
474. Noonan syndrome associated with primary neuroglial tumor of the central nervous system Sherman, C., et al., Neuro-Oncology, 2007. 9(4): p. 479-479.
475. Noonan's syndrome in a long-term follow-up Rosenberg, D., Archives De Pediatrie, 2007. 14(8): p. 1053-1053.
476. Mutations in the RAF1 gene are associated with hypertrophic cardiomyopathy in Noonan syndrome Razzaque, A., et al., Journal of Medical Genetics, 2007. 44: p. S25-S25.
477. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome Nava, C., et al., Journal of Medical Genetics, 2007. 44(12): p. 763-771.
478. Mediating ERK1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome Nakamura, T., et al., Journal of Clinical Investigation, 2007. 117(8): p. 2123-2132.
479. Anesthetic management in a pediatric patient with Noonan syndrome, m., and von Willebrand disease: a case report Macksey, Lynn Fitzgerald and B. White, AANA journal, 2007. 75(4): p. 261-4.
480. Supporting children with Noonan syndrome Lloyd, S., Paediatric nursing, 2007. 19(9): p. 41-41.
481. Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome Lee, S.T., C.S. Ki, and H.J. Lee, Clinical Genetics, 2007. 72(2): p. 150-155.
482. Pregnancy following oocyte donation in a woman with Noonan's syndrome and a balanced Robertsonian translocation a case report Engemise, S. and C. Croucher, Archives of Gynecology and Obstetrics, 2007. 276(2): p. 185-187.
483. Novel mitochondrial DNA mutations implicated in Noonan syndrome Dhandapany, P.S., et al., International Journal of Cardiology, 2007. 120(2): p. 284-285.
484. Noonan syndrome Allanson, J.E., American Journal of Medical Genetics Part C-Seminars in Medical Genetics, 2007. 145C(3): p. 274-279.
485. Use of a substituted quinoline or naphthalene compound e.g. to inhibit protein tyrosine phosphatase and to treat e.g. Noonan syndrome, a.l.l.a.g.c.W., J., et al. Univ South Florida; Moffitt Cancer Cent&Res Inst Inc H Lee; Moffitt Cancer Cent & Res Inst Inc H Lee.
486. Treating cognitive deficit including learning and memory deficits, c.a.h.C.r.i.t.a.s.a.w.a.c.d.a.w.N.s.S., A. J., Y. Lee, and D. Ehninger. Univ California.
487. New tautomycetin analogs are src homology-2 domain containing protein tyrosine phosphatase-2 inhibitors useful for treating e.g. cancer, N.s., Leopard syndrome, autoimmune disease, trauma, sepsis, and acute pancreatitis Shen, B. and Z. Zhang. Wisconsin Alumni Res Found; Univ Indiana Res & Technology Corp.
488. Diagnosing Noonan syndrome or neoplastic disorder comprises detecting mutations in Son of sevenless 1 gene or polypeptide of the subject Neel, B.G., et al. Brigham&Womens Hospital Inc; Beth Israel Deaconess Medical Cent.
489. New non-natural amino acid compounds useful for treating e.g. cancer, d., AIDS, Turner's syndrome, chronic renal failure, inflammatory bowel disease, Noonan's syndrome and chronic fatigue syndrome Miao, Z. and J. Liu. Ambrx Inc.
490. New 3-(phenyl-hydrazono)-1, -.d.-i.-.-o.c.a.p.t.p.i.u.t.t.e.g.N.s., juvenile myelomonocytic leukemia, acute lymphoblastic leukemia and gastric cancer Lawrence, H. R., et al. Moffitt Cancer Cent&Res Inst Inc H Lee; Univ South Florida; Moffitt Cancer Cent & Res Inst Inc H Lee.
491. New growth hormone conjugate comprising a growth hormone compound linked to an albumin binding residue via a hydrophilic spacer, u.f.t.t.s., Prader-Willi syndrome, Noonan syndrome and Down syndrome Johansen, N. L., et al. Novo Nordisk Health Care Ag; Novo Nordisk as; Andersen H S; Johansen N L; Buchardt J; Noerskov-Lauritsen L.
492. Use method of induced pluripotent stem cells as Noonan syndrome model to screen Noonan syndrome therapeutic agent, c.i.e.b.d.f.f.d.i.a.a.e.b.c. and Y. Ju. Korea Advanced Inst Sci & Technology.
493. medicament, U.o.-.-b.-.-f.-.-f.-.-m.-H.-b.-.-c.r.a.-h.-a.o.i.s.f.t.p.o.a. Novartis Ag.
494. Diagnosing Noonan-like syndrome with loose anagen hair in human involves detecting mutation in specific gene nucleic acid molecule, w.m.r.i.t.g.p.c.g.s.a.s., et al. Mount Sinai School Medicine; Icahn School Medicine; Univ California.
495. nucleic acid molecule from the subject Gelb, B. D., D.N.s.N.i.a.h.s.s.o.h.N.c.d.a.m.i.a.R.-s.g.n.e.f.S.o.S.h., M. Tartaglia, and L. Pennacchio. Mount Sinai School Medicine; Univ California; Univ California Office Technology.
496. New peptide comprising specific amino acid sequence motif useful for treating e.g. cancer, l., Ewing Sarcoma, heart failure, Noonan syndrome, and Helicobacter pylori infection Apic, G., et al. Euro Molecular Biology Lab.
497. New growth hormone conjugates, u.f.t.e.g.g.h.d., Turner syndrome, Prader-Willi syndrome, Noonan syndrome, Down syndrome, chronic renal disease and juvenile rheumatoid arthritis Andersen, H. S., et al. Novo Nordisk Health Care Ag; Novo Nordisk As.
No comments:
Post a Comment
Your comment will appear after it is approved