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Outi Mäkitie

Pediatric Endocrinology and Metabolic Bone Diseases

Children's Hospital

Helsinki University Central Hospital and University of Helsinki

P.O. Box 281



Name/email consistency: high



  • Pediatric Endocrinology and Metabolic Bone Diseases, Children's Hospital, Helsinki University Central Hospital and University of Helsinki, P.O. Box 281, Finland. 2012
  • Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland. 2001 - 2010
  • Hospital for Children and Adolescents, Pediatric Endocrinology and Metabolic Bone Clinic, Helsinki University Hospital, Helsinki, Finland. 2008
  • Division of Endocrinology, The Hospital for Sick Children, University of Toronto, Toronto. 2003 - 2005
  • Programmes in Genetics & Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada. 2004
  • Center for the Study of Heritable Connective Tissue Diseases, Research Institute, University of Toronto, Toronto, Canada. 2003


  1. High-dose vitamin d intervention in infants--effects on vitamin d status, calcium homeostasis, and bone strength. Holmlund-Suila, E., Viljakainen, H., Hytinantti, T., Lamberg-Allardt, C., Andersson, S., Mäkitie, O. J. Clin. Endocrinol. Metab. (2012) [Pubmed]
  2. Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation. Mäkitie, O., Pereira, R.C., Kaitila, I., Turan, S., Bastepe, M., Laine, T., Kröger, H., Cole, W.G., Jüppner, H. J. Bone Miner. Res. (2010) [Pubmed]
  3. Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains. Mäkitie, O., Susic, M., Cole, W.G. J. Orthop. Res. (2010) [Pubmed]
  4. Metabolic control and growth during exclusive growth hormone treatment in X-linked hypophosphatemic rickets. Makitie, O., Toiviainen-Salo, S., Marttinen, E., Kaitila, I., Sochett, E., Sipila, I. Horm. Res. (2008) [Pubmed]
  5. Bone health in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED): findings in 25 adults. Mäkitie, O., Sochett, E.B., Bondestam, S., Sipilä, I., Perheentupa, J. Clin. Endocrinol. (Oxf) (2006) [Pubmed]
  6. Osteoporosis: from molecular mechanisms to progress in treatment. Mäkitie, O., Heikinheimo, M. Ann. Med. (2005) [Pubmed]
  7. Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients. Mäkitie, O., Susic, M., Ward, L., Barclay, C., Glorieux, F.H., Cole, W.G. Am. J. Med. Genet. A (2005) [Pubmed]
  8. Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS. Mäkitie, O., Ellis, L., Durie, P.R., Morrison, J.A., Sochett, E.B., Rommens, J.M., Cole, W.G. Clin. Genet. (2004) [Pubmed]
  9. Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients. Mäkitie, O., Mortier, G.R., Czarny-Ratajczak, M., Wright, M.J., Suri, M., Rogala, P., Freund, M., Jackson, G.C., Jakkula, E., Ala-Kokko, L., Briggs, M.D., Cole, W.G. Am. J. Med. Genet. A (2004) [Pubmed]
  10. Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets. Mäkitie, O., Doria, A., Kooh, S.W., Cole, W.G., Daneman, A., Sochett, E. J. Clin. Endocrinol. Metab. (2003) [Pubmed]
  11. Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. Mäkitie, O., Savarirayan, R., Bonafé, L., Robertson, S., Susic, M., Superti-Furga, A., Cole, W.G. Am. J. Med. Genet. A (2003) [Pubmed]
  12. Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia. Mäkitie, O.M., Tapanainen, P.J., Dunkel, L., Siimes, M.A. Ann. Med. (2001) [Pubmed]
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