Pekka Nieminen

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  1. 2015
  2. Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia

    Callea, M., Willoughby, C. E., Nieminen, P., Di Stazio, M., Bellacchio, E., Giglio, S., Sani, I., Vinciguerra, A., Maglione, M., Tadini, G. & Clarich, G. 05.2015 In : Journal of the European Academy of Dermatology and Venereology. 29, 5, p. 1032-1034 3 p.

    Publication: Contribution to journalB1 Unrefereed journal article

  3. A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family

    M, C., Nieminen, P., CE, W., G, C., I, Y., A, V., M, D. S., S, G., I, S., M, M., S, P., G, T. & E, B. 2015 In : Journal of the European Academy of Dermatology and Venereology.

    Publication: Contribution to journalA1 Refereed journal article

  4. 2014
  5. Exclusion of PAX9 and MSX1 mutation in six families affected by tooth agenesis. A genetic study and literature review

    Tallon-Walton, V., Manzanares-Cespedes, M-C., Carvalho-Lobato, P., Valdivia-Gandur, I., Arte, S. & Nieminen, P. 05.2014 In : Medicina Oral, Patologia Oral y Cirugia Bucal. 19, 3, p. E248-E254 7 p., 19173

    Publication: Contribution to journalA1 Refereed journal article

  6. 2013
  7. Candidate Gene Analysis of Tooth Agenesis Identifies Novel Mutations in Six Genes and Suggests Significant Role for WNT and EDA Signaling and Allele Combinations

    Arte, S., Parmanen, S., Pirinen, S., Alaluusua, S. & Nieminen, P. T. 22.08.2013 In : PLoS One. 8, 8, p. Article Number: e73705 12 p.

    Publication: Contribution to journalA1 Refereed journal article

  8. Dental anomalies: genetics

    Nieminen, P. T. 15.03.2013 In : Encyclopedia of life sciences. 2013

    Publication: Contribution to journalA2 Review in scientific journal

  9. 2011
  10. Frameshift Mutations in Dentin Phosphoprotein and Dependence of Dentin Disease Phenotype on Mutation Location

    Nieminen, P., Papagiannoulis-Lascarides, L., Waltimo-Siren, J., Ollila, P., Karjalainen, S., Arte, S., Veerkamp, J., Walton, V. T., Kuestner, E. C., Siltanen, T., Holappa, H., Lukinmaa, P-L. & Alaluusua, S. 04.2011 In : Journal of Bone and Mineral Research. 26, 4, p. 873-880 8 p.

    Publication: Contribution to journalA1 Refereed journal article

  11. Frameshift mutations in dentin phosphoprotein and dependence of dentin disease phenotype on mutation location

    Nieminen, P. T., Papagiannoulis-Lascarides, L., Waltimo-Siren, J. C., Ollila, P. S. H., Karjalainen, S., Arte, S. T., Veerkamp, J., Tallon Walton, V., Chimenos Kustner, E., Siltanen, T., Holappa, H., Lukinmaa, P-L. & Alaluusua, S. 04.2011 In : Journal of Bone and Mineral Research. 26, 4, p. 873-880 8 p.

    Publication: Contribution to journalA1 Refereed journal article

  12. DLX3 homeodomain mutations cause tricho-dento-osseous syndrome with novel phenotypes

    Nieminen, P., Lukinmaa, P-L., Alapulli, H., Methuen, M., Suojarvi, T., Kivirikko, S., Peltola, J., Asikainen, M. & Alaluusua, S. 2011 In : Cells, Tissues, Organs. 194, 1, p. 49-59 11 p.

    Publication: Contribution to journalA1 Refereed journal article

  13. Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth

    Nieminen, P. T., Morgan, N. V., Fenwick, A. L., Parmanen, S., Veistinen, L., Mikkola, M. L., van der Spek, P. J., Giraud, A., Judd, L., Arte, S., Brueton, L. A., Wall, S. A., Mathijssen, I. M. J., Maher, E. R., Wilkie, A. O. M., Kreiborg, S. & Thesleff, I. 2011 In : American Journal of Human Genetics. 89, p. 67-81 15 p.

    Publication: Contribution to journalA1 Refereed journal article

  14. 2010
  15. An epidemiological study of dental agenesis in a primary health area in Spain: Estimated prevalence and associated factors

    Tallon-Walton, V., Nieminen, P., Arte, S., Carvalho-Lobato, P., Ustrell-Torrent, J. M. & Cristina Manzanares-Cespedes, M. 2010 In : Medicina Oral, Patologia Oral y Cirugia Bucal. 15, p. E569-E574 6 p.

    Publication: Contribution to journalA1 Refereed journal article

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