20002017
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Personal profile

Fields of Science

  • 3111 Biomedicine

International and National Collaboration Publications and projects within past five years.

Publications 2000 2017

  • 45 Article
  • 1 Conference article
  • 1 Doctoral Thesis

Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis

Tommiska, J., Känsäkoski, J., Skibsbye, L., Vaaralahti, K., Liu, X., Lodge, E. J., Tang, C., Yuan, L., Fagerholm, R., Kanters, J. K., Lahermo, P., Kaunisto, M., Keski-Filppula, R., Vuoristo, S., Pulli, K., Ebeling, T., Valanne, L., Sankila, E-M., Kivirikko, S., Lääperi, M. & 15 othersCasoni, F., Giacobini, P., Phan-Hug, F., Buki, T., Tena-Sempere, M., Pitteloud, N., Veijola, R., Lipsanen-Nyman, M., Kaunisto, K., Mollard, P., Andoniadou, C. L., Hirsch, J. A., Varjosalo, M., Jespersen, T. & Raivio, T., 3 Nov 2017, In : Nature Communications. 8, 11 p., 1289.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Childhood growth in boys with congenital hypogonadotropic hypogonadism

Varimo, T., Hero, M., Laitinen, E-M., Miettinen, P., Tommiska, J., Känsäkoski, J., Juul, A. & Raivio, T., May 2016, In : Pediatric Research. 79, 5, p. 705-709 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene

Känsäkoski, J., Jaaskelainen, J., Jaaskelainen, T., Tommiska, J., Saarinen, L., Lehtonen, R., Hautaniemi, S., Frilander, M. J., Palvimo, J. J., Toppari, J. & Raivio, T., 9 Sep 2016, In : Scientific Reports. 6, 7 p., 32819.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Gonadotropin-releasing hormone receptor mutations in ageing men

Tommiska, J., Kansakoski, J., Pitteloud, N., Wu, F. & Raivio, T., Jan 2016, In : Clinical Endocrinology. 84, 1, p. 150-151 3 p.

Research output: Contribution to journalArticleScientific

A missense mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty

Kansakoski, J., Raivio, T., Juul, A. & Tommiska, J., Dec 2015, In : Pediatric Research. 78, 6, p. 709-711 3 p.

Research output: Contribution to journalArticleScientificpeer-review