Pekka Nieminen

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  1. Molecular genetics of tooth agenesis

    Nieminen, P. Nov 2007 Helsinki: University of Helsinki, Department of Biological and Environmental Sciences & Institute of Dentistry & Institute of Biotechnology. 114 p.

    Research output: Collection of ArticlesDoctoral Thesis

  2. Maksan glutamiinisyntetaasi

    Nieminen, P. T. 1995 Biotieteiden laitos, Helsingin yliopisto. 45 p.

    Research output: ThesesMaster's thesis

  3. Tunnistatko amelogenesis imperfectan?

    Alaluusua, S., Nieminen, P., Alapulli, H., Kuittinen, T. & Waltimo-Sirén, J. 2017 In : Suomen hammaslääkärilehti. 24, 8, p. 36-41 6 p.

    Research output: Scientific - peer-reviewArticle

  4. Blepharocheilodontic (BCD) Syndrome: New Insights on Craniofacial and Dental Features

    Awadh, W., Kiukkonen, A., Nieminen, P., Arte, S., Hurmerinta, K. & Rice, D. P. Apr 2017 In : American Journal of Medical Genetics. Part A. 173, 4, p. 905-913 9 p.

    Research output: Scientific - peer-reviewArticle

  5. Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes

    Hytönen, M. K., Arumilli, M., Lappalainen, A. K., Owczarek-Lipska, M., Jagannathan, V., Hundi, S., Salmela, E., Venta, P., Sarkiala, E., Jokinen, T., Gorgas, D., Kere, J., Nieminen, P., Drögemüller, C. & Lohi, H. 17 May 2016 In : PLoS Genetics. 12, 5, 20 p., e1006037

    Research output: Scientific - peer-reviewArticle

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

    Callea, M., Nieminen, P., Willoughby, C. E., Clarich, G., Yavuz, I., Vinciguerra, A., Di Stazio, M., Giglio, S., Sani, I., Maglione, M., Pensiero, S., Tadini, G. & Bellacchio, E. Feb 2016 In : Journal of the European Academy of Dermatology and Venereology. 30, 2, p. 341-343 3 p.

    Research output: Scientific - peer-reviewArticle

  7. 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. May 2015 In : Journal of the European Academy of Dermatology and Venereology. 29, 5, p. 1032-1034 3 p.

    Research output: ScientificArticle

  8. 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. May 2014 In : Medicina Oral, Patologia Oral y Cirugia Bucal. 19, 3, p. E248-E254 7 p., 19173

    Research output: Scientific - peer-reviewArticle

  9. 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 Aug 2013 In : PLoS One. 8, 8, p. Article Number: e73705 12 p.

    Research output: Scientific - peer-reviewArticle

  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. Apr 2011 In : Journal of Bone and Mineral Research. 26, 4, p. 873-880 8 p.

    Research output: Scientific - peer-reviewArticle

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