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