1 | NF1, NFNS, PTPN11
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| Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.
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| Thiel C, Wilken M, Zenker M, Sticht H, Fahsold R, Gusek-Schneider GC, Rauch A.
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| Am J Med Genet A 149A(6):1263-7.
2009
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2 | BRAF, CFC2, CFC3, COSTS, HRAS, KRAS, LEOPS, MAP2K1, MAPK1, MTOR, NF1, NFNS, NS1, NS3, NS4, NS5, PTPN11, RAF1, SOS1
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| Oncogenes on my mind: ERK and MTOR signaling in cognitive diseases.
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| Krab LC, Goorden SM, Elgersma Y.
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| Trends Genet 24(10):498-510. Epub 2008 Sep 4. 2008
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3 | NF1, NFNS
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| A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene.
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| Huffmeier U, Zenker M, Hoyer J, Fahsold R, Rauch A.
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| Am J Med Genet A 140(24):2749-56. 2006
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4 | NF1, NFNS
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| NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
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| De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, Schirinzi A, Conti E, Zampino G, Battaglia A, Majore S, Rinaldi MM, Carella M, Marino B, Pizzuti A, Digilio MC, Tartaglia M, Dallapiccola B.
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| Am J Hum Genet 77(6):1092-101. Epub 2005 Oct 26. 2005
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5 | NFNS
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| Different mutations in the NF1 gene are associated with neurofibromatosis-Noonan syndrome (NFNS).
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| Baralle, D.; Mattocks, C.; Kalidas, K.; Elmslie, F.; Whittaker, J.; Lees, M.; Ragge, N.; Patton, M. A.; Winter, R. M.; ffrench-Constant, C.
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| Am. J. Med. Genet. 119(1):1-8. 2003
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6 | NF1, NFNS
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| Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome.
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| Bahuau M, Houdayer C, Assouline B, Blanchet-Bardon C, Le Merrer M, Lyonnet S, Giraud S, Recan D, Lakhdar H, Vidaud M, Vidaud D.
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| Am J Med Genet 75(3):265-72. 1998
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7 | NFNS
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| Neurofibromatosis-Noonan syndrome.
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| Carey JC.
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| Am J Med Genet 75(3):263-4. 1998
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8 | NFNS, NF1
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| Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association.
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| Bahuau M, et al.
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| Am J Med Genet 66 : 347-355. 1996
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9 | NF1, NFNS
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| Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis.
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| Colley A, Donnai D, Evans DG.
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| Clin Genet 49(2):59-64. 1996
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10 | NFNS, NF1, WATS
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| Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.
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| Tassabehji M, Strachan T, Sharland M, Colley A, Donnai D, Harris R, Thakker N.
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| Am J Hum Genet 53(1):90-5. 1993
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11 | NFNS
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| The neurofibromatosis-Noonan syndrome.
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| Opitz JM, Weaver DD.
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| Am J Med Genet 21(3):477-90. No abstract available. 1985
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