| 1 | CFC5, KRAS, NS3
|
| Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes.
|
| Cirstea IC, Gremer L, Dvorsky R, Zhang SC, Piekorz RP, Zenker M, Ahmadian MR.
|
| Hum Mol Genet 22(2):262-70. doi: 10.1093/hmg/dds426. Epub 2012 Oct 11.
2013
|
| 2 | CFC5, KRAS, NS3
|
| Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
|
| Gremer L, Merbitz-Zahradnik T, Dvorsky R, Cirstea IC, Kratz CP, Zenker M, Wittinghofer A, Ahmadian MR.
|
| Hum Mutat 32(1):33-43. doi: 10.1002/humu.21377. Epub 2010 Dec 9.
2011
|
| 3 | NS3
|
| Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome.
|
| Yatsenko SA, del Valle Torrado M, Fernandes PH, Wiszniewska J, Gallego M, Herrera J, Bacino CA.
|
| Am J Med Genet A 149A(12):2723-30.
2009
|
| 4 | BRAF, CFC2, CFC3, CFC4, CFC5, COSTS, HRAS, KRAS, MAP2K1, MAP2K2, NS3
|
| The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
|
| Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y.
|
| Hum Mutat 29(8):992-1006.
2008
|
| 5 | BRAF, 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
|
| 6 | CFC3, CFC4, CFC5, KRAS, MAP2K1, MAP2K2, NS3, NS5, RAF1
|
| Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
|
| Nyström AM, Ekvall S, Berglund E, Björkqvist M, Braathen G, Duchen K, Enell H, Holmberg E, Holmlund U, Olsson-Engman M, Annerén G, Bondeson ML.
|
| J Med Genet 45(8):500-6. Epub 2008 May 2.
2008
|
| 7 | CFC5, COSTS, HRAS, KRAS, NS3
|
| Clinical and molecular aspects of RAS related disorders.
|
| Denayer E, de Ravel T, Legius E.
|
| J Med Genet 45(11):695-703. Epub 2008 Jun 11. Review.
2008
|
| 8 | KRAS, NS1, NS3, NS4, NS5, PTPN11, RAF1, SOS1
|
| PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
|
| Ko JM, Kim JM, Kim GH, Yoo HW.
|
| J Hum Genet 53(11-12):999-1006. Epub 2008 Nov 20.
2008
|
| 9 | NS3, KRAS, COSTS, HRAS
|
| The neoplastic risk in children with Noonan syndrome and Costello syndrome.
|
| Lopez-Rangel E.
|
| Clin Genet 71(1):44-5. 2007
|
| 10 | KRAS, NS3, CFC5
|
| Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
|
| Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, Korinthenberg R, Kreiss-Nachtsheim M, Meinecke P, Morlot S, Mundlos S, Quante AS, Raskin S, Schnabel D, Wehner LE, Kratz CP, Horn D, Kutsche K.
|
| J Med Genet 44(2):131-5. Epub 2006 Oct 20. 2007
|
| 11 | KRAS,NS3
|
| Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.
|
| Bertola DR, Pereira AC, Brasil AS, Albano LM, Kim CA, Krieger JE.
|
| J Hum Genet 52(6):521-6. Epub 2007 Apr 28. 2007
|
| 12 | CFC5, NS3
|
| Biochemical and functional characterization of germ line KRAS mutations.
|
| Schubbert S, Bollag G, Lyubynska N, Nguyen H, Kratz CP, Zenker M, Niemeyer CM, Molven A, Shannon K.
|
| Mol Cell Biol 27(22):7765-70. Epub 2007 Sep 17.PMID: 17875937 2007
|
| 13 | NS3, KRAS
|
| Germline KRAS mutations cause Noonan syndrome.
|
| Schubbert S, Zenker M, Rowe SL, Boll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP.
|
| Nat Genet 38(3):331-6. Epub 2006 Feb 12. 2006
|