Institute for Molecular Medicine Finland (FIMM)

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  1. 2015
  2. Hierarchical Bayesian Model for Rare Variant Association Analysis Integrating Genotype Uncertainty in Human Sequence Data

    He, L., Pitkaniemi, J., Sarin, A-P., Salomaa, V., Sillanpaa, M. J. & Ripatti, S. 02.2015 In : Genetic Epidemiology. 39, 2, p. 89-100 12 p.

    Publication: Contribution to journalA1 Refereed journal article

  3. Measuring short-term liver metabolism non-invasively: postprandial and post-exercise H-1 and P-31 MR spectroscopy

    Hakkarainen, A., Lundbom, J., Tuominen, E. K., Taskinen, M-R., Pietilainen, K. H. & Lundbom, N. 02.2015 In : Magnetic Resonance Materials in Physics, Biology and Medicine.28, 1, p. 57-66 10 p.

    Publication: Contribution to journalA1 Refereed journal article

  4. Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3

    Haapaniemi, E. M., Kaustio, M., Rajala, H. L. M., van Adrichem, A. J., Kainulainen, L., Glumoff, V., Doffinger, R., Kuusanmaki, H., Heiskanen-Kosma, T., Trotta, L., Chiang, S., Kulmala, P., Eldfors, S., Katainen, R., Siitonen, S., Karjalainen-Lindsberg, M-L., Kovanen, P. E., Otonkoski, T., Porkka, K., Heiskanen, K., Hanninen, A., Bryceson, Y. T., Uusitalo-Seppala, R., Saarela, J., Seppanen, M., Mustjoki, S. & Kere, J. 22.01.2015 In : Blood. 125, 4, p. 639-648 10 p.

    Publication: Contribution to journalA1 Refereed journal article

  5. Biological interpretation of genome-wide association studies using predicted gene functions

    Pers, T. H., Karjalainen, J. M., Chan, Y., Westra, H-J., al, E. & Kaprio, J. 19.01.2015 In : Nature Communications. 6, 5890, 9 p.

    Publication: Contribution to journalA1 Refereed journal article

  6. The higher frequency of IgA deficiency among Swedish twins is not explained by HLA haplotypes.

    Frankowiack, M., R, K., Repasky, G., Lim, C. K., Song, C., Pedersen, N. L. & Hammarström, L. 08.01.2015 In : Genes and Immunity.

    Publication: Contribution to journalA1 Refereed journal article

  7. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

    Muona, M., Berkovic, S. F., Dibbens, L. M., Oliver, K. L., Maljevic, S., Bayly, M. A., Joensuu, T., Canafoglia, L., Franceschetti, S., Michelucci, R., Markkinen, S., Heron, S. E., Hildebrand, M. S., Andermann, E., Andermann, F., Gambardella, A., Tinuper, P., Licchetta, L., Scheffer, I. E., Criscuolo, C., Filla, A., Ferlazzo, E., Ahmad, J., Ahmad, A., Baykan, B., Said, E., Topcu, M., Riguzzi, P., King, M. D., Ozkara, C., Andrade, D. M., Engelsen, B. A., Crespel, A., Lindenau, M., Lohmann, E., Saletti, V., Massano, J., Privitera, M., Espay, A. J., Kauffmann, B., Duchowny, M., Moller, R. S., Straussberg, R., Afawi, Z., Ben-Zeev, B., Samocha, K. E., Daly, M. J., Petrou, S., Lerche, H., Palotie, A. & Lehesjoki, A-E. 01.01.2015 In : Nature Genetics. 47, 1, p. 39+ 11 p.

    Publication: Contribution to journalA1 Refereed journal article

  8. Caveolin-1 deficiency induces a MEK-ERK1/2-Snail-1-dependent epithelial-mesenchymal transition and fibrosis during peritoneal dialysis

    Strippoli, R., Loureiro, J., Moreno, V., Benedicto, I., Perez Lozano, M. L., Barreiro, O., Pellinen, T., Minguet, S., Foronda, M., Teresa Osteso, M., Calvo, E., Vazquez, J., Lopez Cabrera, M. & Angel del Pozo, M. 01.2015 In : EMBO molecular medicine. 7, 1, p. 102-123 22 p.

    Publication: Contribution to journalA1 Refereed journal article

  9. Etenevän epilepsian geenitausta tarkentuu

    Muona, M. & Lehesjoki, A-E. 01.2015 In : Duodecim. 131, 1, p. 87-88 2 p.

    Publication: Contribution to journalD1 Article in professional journal

  10. Extendable blocking probe in reverse transcription for analysis of RNA variants with superior selectivity

    Ho, T. H., Dang, K. X., Lintula, S., Hotakainen, K., Feng, L., Olkkonen, V. M., Verschuren, E. W., Tenkanen, T., Haglund, C., Kolho, K-L., Stenman, U-H. & Stenman, J. 01.2015 In : Nucleic Acids Research. 43, 1, 11 p.4

    Publication: Contribution to journalA1 Refereed journal article

  11. Loss of Rad51c accelerates tumourigenesis in sebaceous glands of Trp53-mutant mice

    Tumiati, M., Hemmes, A., Uusivirta, S., Koopal, S., Kankainen, M., Lehtonen, E. & Kuznetsov, S. G. 01.2015 In : Journal of Pathology. 235, 1, p. 136-146 11 p.

    Publication: Contribution to journalA1 Refereed journal article

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