| 1 | COSTS, HRAS
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| Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.
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| Lorenz S, Petersen C, Kordaß U, Seidel H, Zenker M, Kutsche K.
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| Eur J Med Genet 55(11):615-9. doi: 10.1016/j.ejmg.2012.07.007. Epub 2012 Aug 7.
2012
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| 2 | COSTS, HRAS
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| Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.
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| Burkitt-Wright EM, Bradley L, Shorto J, McConnell VP, Gannon C, Firth HV, Park SM, D'Amore A, Munyard PF, Turnpenny PD, Charlton A, Wilson M, Kerr B.
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| Am J Med Genet A 158A(5):1102-10. doi: 10.1002/ajmg.a.35296. Epub 2012 Apr 11.
2012
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| 3 | COSTS, HRAS
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| Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.
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| Gripp KW, Lin AE.
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| Genet Med 14(3):285-92. doi: 10.1038/gim.0b013e31822dd91f. Review.
2012
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| 4 | CHST11, COSTS
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| C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.
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| Klüppel M, Samavarchi-Tehrani P, Liu K, Wrana JL, Hinek A.
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| Eur J Hum Genet 20(8):870-7. doi: 10.1038/ejhg.2012.12. Epub 2012 Feb 8.
2012
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| 5 | COSTS, HRAS
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| Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.
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| Gripp KW, Stabley DL, Geller PL, Hopkins E, Stevenson DA, Carey JC, Sol-Church K.
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| Am J Med Genet A 155A(9):2263-8. doi: 10.1002/ajmg.a.34150. Epub 2011 Aug 10.
2011
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| 6 | COSTS, HRAS
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| HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.
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| Niihori T, Aoki Y, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Kawame H, Inazawa J, Ohura T, Arai H, Nabatame S, Kikuchi K, Kuroki Y, Miura M, Tanaka T, Ohtake A, Omori I, Ihara K, Mabe H, Watanabe K, Niijima S, Okano E, Numabe H, Matsubara Y.
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| J Hum Genet 56(10):707-15. doi: 10.1038/jhg.2011.85. Epub 2011 Aug 18.
2011
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| 7 | COSTS, HRAS
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| Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.
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| Gremer L, De Luca A, Merbitz-Zahradnik T, Dallapiccola B, Morlot S, Tartaglia M, Kutsche K, Ahmadian MR, Rosenberger G.
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| Hum Mol Genet 19(5):790-802. Epub 2009 Dec 8.PMID: 19995790 2010
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| 8 | COSTS, HRAS
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| Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome.
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| Axelrad ME, Schwartz DD, Fehlis JE, Hopkins E, Stabley DL, Sol-Church K, Gripp KW.
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| Am J Med Genet A 149A(12):2666-72.PMID: 19919001 2009
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| 9 | HRAS, KRAS, BRAF, CFC2, COSTS, CFC3, MAP2K1, MAP2K2, CFC4, CFC5
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| Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
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| Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, HŸbner CA, Korenke GC, Kšnig R, Kress W, KrŸger G, Meinecke P, MŸcke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M.
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| Clin Genet 73(1):62-70. Epub 2007 Nov 27. 2008
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| 10 | COSTS, HRAS
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| Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation.
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| Denayer E, Parret A, Chmara M, Schubbert S, Vogels A, Devriendt K, Frijns JP, Rybin V, de Ravel TJ, Shannon K, Cools J, Scheffzek K, Legius E.
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| Hum Mutat 29(2):232-9. 2008
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| 11 | HRAS, COSTS
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| Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?
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| Gripp KW, Innes AM, Axelrad ME, Gillan TL, Parboosingh JS, Davies C, Leonard NJ, Lapointe M, Doyle D, Catalano S, Nicholson L, Stabley DL, Sol-Church K.
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| Am J Med Genet A 146(6):683-90. 2008
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| 12 | COSTS, HRAS
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| The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders.
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| Kerr B, Allanson J, Delrue MA, Gripp KW, Lacombe D, Lin AE, Rauen KA.
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| Am J Med Genet A 146A(9):1218-20. Review. No abstract available. 2008
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| 13 | BRAF, CFC2, CFC3, CFC4, CFC5, COSTS, HRAS, KRAS, MAP2K1, MAP2K2, NS3
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| The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
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| Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y.
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| Hum Mutat 29(8):992-1006.
2008
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| 14 | 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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| 15 | CFC5, COSTS, HRAS, KRAS, NS3
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| Clinical and molecular aspects of RAS related disorders.
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| Denayer E, de Ravel T, Legius E.
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| J Med Genet 45(11):695-703. Epub 2008 Jun 11. Review.
2008
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| 16 | HRAS, COSTS
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| HRAS and the Costello syndrome.
|
| Rauen K.
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| Clin Genet 71(2):101-8. 2007
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| 17 | NS3, KRAS, COSTS, HRAS
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| The neoplastic risk in children with Noonan syndrome and Costello syndrome.
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| Lopez-Rangel E.
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| Clin Genet 71(1):44-5. 2007
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| 18 | HRAS, COSTS
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| Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
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| Zampino G, Pantaleoni F, Carta C, Cobellis G, Vasta I, Neri C, Pogna EA, De Feo E, Delogu A, Sarkozy A, Atzeri F, Selicorni A, Rauen KA, Cytrynbaum CS, Weksberg R, Dallapiccola B, Ballabio A, Gelb BD, Neri G, Tartaglia M.
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| Hum Mutat 28(3):265-72. 2007
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| 19 | CFC2, CFC3, CFC4, CFC5, KRAS, MAP2K1, MAP2K2, BRAF, COSTS, HRAS
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| Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
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| Narumi Y, Aoki Y, Niihori T, Neri G, Cave H, Verloes A, Nava C, Kavamura MI, Okamoto N, Kurosawa K, Hennekam RC, Wilson LC, Gillessen-Kaesbach G, Wieczorek D, Lapunzina P, Ohashi H, Makita Y, Kondo I, Tsuchiya S, Ito E, Sameshima K, Kato K, Kure S, Matsubara Y.
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| Am J Med Genet A 143(8):799-807. 2007
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| 20 | COSTS,HRAS
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| Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation.
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| van der Burgt I, Kupsky W, Stassou S, Nadroo A, Barroso C, Diem A, Kratz CP, Dvorsky R, Ahmadian MR, Zenker M.
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| J Med Genet 44(7):459-62. Epub 2007 Apr 5. 2007
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| 21 | CFC2, BRAF, CFC3, MAP21K1, CFC3, MAP2K2, CFC5, KRAS, COSTS, HRAS
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| Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
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| Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, Aoki Y, Matsubara Y, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, HŽron D, Sigaudy S, Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, CavŽ H.
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| J Med Genet 44(12):763-71. Epub 2007 Aug 17. 2007
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| 22 | HRAS, COSTS
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| HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
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| Gripp KW, Lin AE, Stabley DL, Nicholson L, Scott CI Jr, Doyle D, Aoki Y, Matsubara Y, Zackai EH, Lapunzina P, Gonzalez-Meneses A, Holbrook J, Agresta CA, Gonzalez IL, Sol-Church K.
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| Am J Med Genet A 140(1):1-7. 2006
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| 23 | HRAS, COSTS
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| HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.
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| Estep AL, Tidyman WE, Teitell MA, Cotter PD, Rauen KA.
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| Am J Med Genet A 140(1):8-16. 2006
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| 24 | HRAS, COSTS
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| Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
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| Kerr B, Delrue MA, Sigaudy S, Perveen R, Marche M, Burgelin I, Stef M, Tang B, Eden OB, O'Sullivan J, De Sandre-Giovannoli A, Reardon W, Brewer C, Bennett C, Quarell O, M'Cann E, Donnai D, Stewart F, Hennekam R, Cave H, Verloes A, Philip N, Lacombe D, Levy N, Arveiler B, Black G.
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| J Med Genet 43(5):401-5. Epub 2006 Jan 27. 2006
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| 25 | CFC2, BRAF, CFC3, MAP2K1, CFC4, MAP2K2, COSTS, HRAS
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| Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype.
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| Rauen KA.
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| Am J Med Genet A 140(15):1681-3. No abstract available. 2006
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| 26 | HRAS, COSTS
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| Somatic mosaicism for an HRAS mutation causes Costello syndrome.
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| Gripp KW, Stabley DL, Nicholson L, Hoffman JD, Sol-Church K.
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| Am J Med Genet A 140(20):2163-9. 2006
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| 27 | HRAS, COSTS
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| Germline mutations in HRAS proto-oncogene cause Costello syndrome.
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| Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, Filocamo M, Kato K, Suzuki Y, Kure S, Matsubara Y.
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| Nat Genet 37(10):1038-40. Epub 2005 Sep 18. 2005
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| 28 | PDGFB, COSTS
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| Disruption of the PDGFB gene in a 1;22 translocation patient does not cause Costello syndrome.
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| Sutajova M, Neukirchen U, Meinecke P, Czeizel AE, Timar L, Solyom E, Gal A, Kutsche K.
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| Genomics 83(5):883-92. 2004
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| 29 | COSTS
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| Costello syndrome: an overview.
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| kam RC.
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| Am J Med Genet 117C(1):42-8. Review. 2003
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| 30 | CFC1, NS1, COSTS
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| Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes.
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| Tartaglia M, Cotter PD, Zampino G, Gelb BD, Rauen KA.
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| Clin Genet 63(5):423-6. 2003
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| 31 | COSTS
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| Refinement and delineation of the breakpoint regions of a chromosome 1;22 translocation in a patient with Costello syndrome.
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| Maroti Z, Kutsche K, Sutajova M, Gal A, Nothwang HG, Czeizel AE, Timar L, Solyom E.
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| Am J Med Genet 109(3):234-7. No abstract available. 2002
|