References
- Peltonen L. Molecular background of the Finnish disease heritage. Ann Med 1997;29:553–6.
- Valkonen S, Hietala M, Savontaus ML, Aula P. Origin of Finnish mutations causing aspartylglucosaminuria. Hereditas 1999;131:191–5.
- Saarela J, Laine M, Oinonen C, von Schantz C, Jalanko A, Rouvinen J, Peltonen, L. Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations. Hum Mol Genet 2001;10:983–95.
- Hietala M, Gron K, Syvanen AC, Peltonen L, Aula P. Prospects of carrier screening of aspartylglucosaminuria in Finland. Eur J Hum Genet 1993;1:296–300.
- Peltonen L, Jalanko A, Varilo T. Molecular genetics of the Finnish disease heritage. Hum Mol Genet 1999;8: 1913–23.
- Peltonen L, Pekkarinen P, Aaltonen J. Messages from an isolate: lessons from the Finnish gene pool. Biol Chem Hoppe Seyler 1995;376:697–704.
- Sipila K, Aula P. Database for the mutations of the Finnish disease heritage. Hum Mutat 2002;19:16–22.
- Cohen J, Wilson A, Manzolillo K. Clinical and economic challenges facing pharmacogenomics. Pharmacogenomics J 2013;4:378–88.
- Snyderman R. Personalized health care: From theory to practice. Biotechnol J 2012;7:973–9.
- Ginsburg GS, Willard HF. Genomic and personalized medicine: foundations and applications. Transl Res 2009; 154:277–87.
- , SEARCH Collaborative GroupLink E, Parish S, Armitage J, Bowman L, Heath S, Matsuda F, Gut I, Lathrop M, Collins R. SLCO1B1 variants and statin- induced myopathy – a genomewide study. N Engl J Med 2008;359:789–99.
- Kranenburg O. The KRAS oncogene: past, present, and future. Biochim Biophys Acta 2005;1756:81–2.
- Haigis KM, Kendall KR, Wang Y, Cheung A, Haigis MC, Glickman JN, Niwa-Kawakita M, Sweet-Cordero A, Sebolt-Leopold J, Shannon KM, Settleman J, Giovannini M, Jacks T. Differential effects of oncogenic K-Ras and N-Ras on proliferation, differentiation and tumor progression in the colon. Nat Genet 2008;40:600–8.
- Amanuel B, Grieu F, Kular J, Millward M, Iacopetta B. Incidence of BRAF p.Val600Glu and p.Val600Lys mutations in a consecutive series of 183 metastatic melanoma patients from a high incidence region. Pathology 2012; 44:357–9.
- Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, Teague J, Woffendin H, Garnett MJ, Bottomley W, Davis N, Dicks E, Ewing R, Floyd Y, Gray K, Hall S, Hawes R, Hughes J, Kosmidou V, Menzies A, Mould C, Parker A, Stevens C, Watt S, Hooper S, Wilson R, Jayatilake H, Gusterson BA, Cooper C, Shipley J, Hargrave D, Pritchard-Jones K, Maitland N, Chenevix-Trench G, Riggins GJ, Bigner DD. Mutations of the BRAF gene in human cancer. Nature 2002; 417:949–54.
- Esteller M, Garcia-Foncillas J, Andion E, Goodman SN, Hidalgo OF, Vanaclocha V, Baylin SB, Herman JB. Inactivation of the DNA-repair gene MGMT and the clinical response of gliomas to alkylating agents. N Engl J Med 2000;343:1350–4.
- Jalanko A, Kere J, Savilahti E, Schwartz M, Syvanen AC, Ranki M, Soderlund H. Screening for defined cystic fibrosis mutations by solid-phase minisequencing. Clin Chem 1992;38:39–43.
- Orpana AK. Fluorescence resonance energy transfer (FRET) using ssDNA binding fluorescent dye. Biomol Eng 2004; 21:45–50.
- Enattah NS, Sahi T, Savilahti E, Terwilliger JD, Peltonen L, Jarvela I. Identification of a variant associated with adult-type hypolactasia. Nat Genet 2002;30:233–7.
- Ihalainen J, Siitari H, Laine S, Syvanen AC, Palotie A. Towards automatic detection of point mutations: use of scintillating microplates in solid-phase minisequencing. BioTechniques 1994;16:938–94.
- Karayan-Tapon L, Quillien V, Guilhot J, Wager M, Fromont G, Saikali S, Etcheverry A, Hamlat A, Loussouarn D, Campion L, Campone M, Vallette FM, Gratas-Rabbia-Re C. Prognostic value of O6-methylguanine-DNA methyltransferase status in glioblastoma patients, assessed by five different methods. J Neurooncol 2010;97:311–22.
- Nakagawachi T, Soejima H, Urano T, Zhao W, Higashimoto K, Satoh Y, Matsukura S, Kudo S, Kitajima Y, Harada H, Furukawa K, Matsuzaki H, Emi M, Nakabeppu Y, Miyazaki K, Sekiguchi M, Mukai T. Silencing effect of CpG island hypermethylation and histone modifications on O6-methylguanine-DNA methyltransferase (MGMT) gene expression in human cancer. Oncogene 2003;22:8835–44.
- Takahashi H, Wilkinson GR, Nutescu EA, Morita T, Ritchie MD, Scordo MG, Pengo V, Barban M, Padrini R, Ieiri I, Otsubo K, Kashima T, Kimura S, Kijima S, Echizen H. Different contributions of polymorphisms in VKORC1 and CYP2C9 to intra- and inter-population differences in maintenance dose of warfarin in Japanese, Caucasians and African-Americans. Pharmacogenet Genomics 2006;16: 101–10.
- Coulthard S, Hogarth L. The thiopurines: an update. Invest New Drugs 2005;23:523–32.
- Haglund S, Lindqvist M, Almer S, Peterson C, Taipalensuu J. Pyrosequencing of TPMT alleles in a general Swedish population and in patients with inflammatory bowel disease. Clin Chem 2004;50:288–95.
- Ross KA, Bigham AW, Edwards M, Gozdzik A, Suarez-Kurtz G, Parra EJ. Worldwide allele frequency distribution of four polymorphisms associated with warfarin dose requirements. J Hum Genet 2010;55: 582–9.