Department of Medical and Clinical Genetics

  • Finland

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

Research Units

Projects 1998 2017

Publications 1996 2018

229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017

LGMD Workshop Study Grp, Aug 2018, In : Neuromuscular Disorders. 28, 8, p. 702-710 9 p.

Research output: Contribution to journalArticleScientificpeer-review

A founder mutation in CERKL is a major cause of retinal dystrophy in Finland

Avela, K., Sankila, E-M., Seitsonen, S., Kuuluvainen, L., Barton, S., Gillies, S. & Aittomäki, K., Mar 2018, In : Acta Ophthalmologica. 96, 2, p. 183-191 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target

Dufva, O., Kankainen, M., Kelkka, T., Sekiguchi, N., Awad, S. A., Eldfors, S., Yadav, B., Kuusanmäki, H., Malani, D., Andersson, E. I., Pietarinen, P., Saikko, L., Kovanen, P. E., Ojala, T., Lee, D. A., Loughran, T. P., Nakazawa, H., Suzumiya, J., Suzuki, R., Ko, Y. H. & 7 othersKim, W. S., Chuang, S-S., Aittokallio, T., Chan, W. C., Ohshima, K., Ishida, F. & Mustjoki, S., 19 Apr 2018, In : Nature Communications. 9, 12 p., 1567.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Altered MicroRNA Profile in Osteoporosis Caused by Impaired WNT Signaling

Mäkitie, R. E., Hackl, M., Niinimäki, R., Kakko, S., Grillari, J. & Mäkitie, O., May 2018, In : Journal of Clinical Endocrinology and Metabolism. 103, 5, p. 1985-1996 12 p.

Research output: Contribution to journalArticleScientificpeer-review

A new case of limb girdle muscular dystrophy 2g in a greek patient, founder effect and review of the literature

Brusa, R., Magri, F., Papadimitriou, D., Govoni, A., Del Bo, R., Ciscato, P., Savarese, M., Cinnante, C., Walter, M. C., Abicht, A., Bulst, S., Corti, S., Moggio, M., Bresolin, N., Nigro, V. & Comi, G. P., 2018, In : Neuromuscular Disorders. 28, 6, p. 532-537 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Activities 1986 2018

The role of low-frequency variants in pre-eclampsia: recent findings in a Finnish population

Hannele Maaret Laivuori (Speaker)
11 Aug 2018

Activity: Talk or presentation typesInvited talk

Lunenfeld-Tanenbaum Research Institute (LTRI) Seminar Series

Miira (Klemetti) Pettersson (Speaker: Presenter)
16 May 2018

Activity: Participating in or organising an event typesPublic Talks

EUROTOXEMIA 2018

Hannele Laivuori (Speaker: Presenter)
22 Jun 201823 Jun 2018

Activity: Participating in or organising an event typesOrganisation and participation in conferences, workshops, courses, seminars

iPlacenta (External organisation)

Hannele Laivuori (Member)
Jan 2018 → …

Activity: Membership typesMembership or other role in research network

2018 Congress of the International Society of Hypertension in Pregnancy

Hannele Laivuori (Speaker: Chair)
6 Oct 20189 Oct 2018

Activity: Participating in or organising an event typesOrganisation and participation in conferences, workshops, courses, seminars

Press / Media

Haastattelu Helsingin Sanomissa

Nina Johanna Kaminen-Ahola

19/06/2018

1 item of media coverage

Press/Media: Press / Media

Interview in KaksPlus magazine

Nina Johanna Kaminen-Ahola

06/10/2017

1 item of media coverage

Press/Media: Press / Media

SISU – MED­ICAL BREAK­THROUGHS FROM OPEN SCI­ENCE

Hannele Maaret Laivuori

28/10/2016

1 media contribution

Press/Media: Press / Media

Interview in Huomenta Suomi, MTV3

Nina Johanna Kaminen-Ahola

07/09/2016

1 item of media coverage

Press/Media: Press / Media