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Page 1
[Genetic databases and their use].
Vihinen M, Lehväslaiho H. Vihinen M, et al. Among authors: lehvaslaiho h. Duodecim. 2000;116(16):1759-62. Duodecim. 2000. PMID: 12001454 Review. Finnish. No abstract available.
Recommendations for locus-specific databases and their curation.
Cotton RG, Auerbach AD, Beckmann JS, Blumenfeld OO, Brookes AJ, Brown AF, Carrera P, Cox DW, Gottlieb B, Greenblatt MS, Hilbert P, Lehvaslaiho H, Liang P, Marsh S, Nebert DW, Povey S, Rossetti S, Scriver CR, Summar M, Tolan DR, Verma IC, Vihinen M, den Dunnen JT. Cotton RG, et al. Among authors: lehvaslaiho h. Hum Mutat. 2008 Jan;29(1):2-5. doi: 10.1002/humu.20650. Hum Mutat. 2008. PMID: 18157828 Free PMC article.
Unified access to mutation databases.
Lehväslaiho H, Ashburner M, Etzold T. Lehväslaiho H, et al. Trends Genet. 1998 May;14(5):205-6. doi: 10.1016/s0168-9525(98)01442-5. Trends Genet. 1998. PMID: 9613206 No abstract available.
An overview of Ensembl.
Birney E, Andrews TD, Bevan P, Caccamo M, Chen Y, Clarke L, Coates G, Cuff J, Curwen V, Cutts T, Down T, Eyras E, Fernandez-Suarez XM, Gane P, Gibbins B, Gilbert J, Hammond M, Hotz HR, Iyer V, Jekosch K, Kahari A, Kasprzyk A, Keefe D, Keenan S, Lehvaslaiho H, McVicker G, Melsopp C, Meidl P, Mongin E, Pettett R, Potter S, Proctor G, Rae M, Searle S, Slater G, Smedley D, Smith J, Spooner W, Stabenau A, Stalker J, Storey R, Ureta-Vidal A, Woodwark KC, Cameron G, Durbin R, Cox A, Hubbard T, Clamp M. Birney E, et al. Among authors: lehvaslaiho h. Genome Res. 2004 May;14(5):925-8. doi: 10.1101/gr.1860604. Epub 2004 Apr 12. Genome Res. 2004. PMID: 15078858 Free PMC article. Review.
A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases.
Cotton RG, Auerbach AD, Brown AF, Carrera P, Christodoulou J, Claustres M, Compton J, Cox DW, De Baere E, den Dunnen JT, Greenblatt M, Fujiwara M, Hilbert P, Jani A, Lehvaslaiho H, Nebert DW, Verma I, Vihinen M; Members of the Human Genome Variation Society; Human Variome Project Diagnostic Laboratory Working Group. Cotton RG, et al. Among authors: lehvaslaiho h. Hum Mutat. 2007 Oct;28(10):931-2. doi: 10.1002/humu.20631. Hum Mutat. 2007. PMID: 17726697
BTKbase, mutation database for X-linked agammaglobulinemia (XLA).
Vihinen M, Belohradsky BH, Haire RN, Holinski-Feder E, Kwan SP, Lappalainen I, Lehväslaiho H, Lester T, Meindl A, Ochs HD, Ollila J, Vorechovsky I, Weiss M, Smith CI. Vihinen M, et al. Among authors: lehvaslaiho h. Nucleic Acids Res. 1997 Jan 1;25(1):166-71. doi: 10.1093/nar/25.1.166. Nucleic Acids Res. 1997. PMID: 9016530 Free PMC article.
BTKbase: XLA-mutation registry.
Vihinen M, Brooimans RA, Kwan SP, Lehväslaiho H, Litman GW, Ochs HD, Resnick I, Schwaber JH, Vorĕchovsky I, Smith CI. Vihinen M, et al. Among authors: lehvaslaiho h. Immunol Today. 1996 Nov;17(11):502-6. doi: 10.1016/0167-5699(96)30058-3. Immunol Today. 1996. PMID: 8961625 No abstract available.
59 results