Research: From gene to population
Research published by the Turku Neurofibromatosis Centre: Neurofibromatosis group
Recent research on mutation analysis of NF1:
Uusitalo E, Hammais A, Palonen E, Brandt A, Mäkelä VV, Kallionpää R, Jouhilahti EM, Pöyhönen M, Soini J, Peltonen J, Peltonen S. Neurofibromatosis Type 1 gene mutation analysis using sequence capture and high-throughput sequencing. Acta Derm Venereol. 94(6):663-6, 2014
Epidemiology of NF:
Uusitalo E, Leppävirta J, Koffert A, Suominen S, Vahtera J, Vahlberg T, Pöyhönen M, Peltonen J and Peltonen S. Incidence and mortality of neurofibromatosis. A total population study in Finland. J Invest Dermatol 135:904-906, 2015
Uusitalo E, Rantanen M, Kallionpää RA, Pöyhönen M, Leppävirta J, Ylä-Outinen H, Riccardi VM, Pukkala E, Pitkäniemi J, Peltonen S, Peltonen J.
Distinctive Cancer Associations in Patients With Neurofibromatosis Type 1. J Clin Oncol. 34(17):1978-86, 2016
Uusitalo E, Kallionpää RA, Kurki S, Rantanen M, Pitkäniemi J, Kronqvist P, Härkönen P, Huovinen R, Carpen O, Pöyhönen M, Peltonen S, Peltonen J. Breast cancer in neurofibromatosis type 1: overrepresentation of unfavourable prognostic factors. Br J Cancer. 2016 Dec 8. doi: 10.1038/bjc.2016.403.
Craniofacial and oral symptoms of NF:
Visnapuu V, Pienihäkkinen K, Peltonen S, Happonen R-P, and Peltonen J: Neurofibromatosis 1 and dental caries. Clinical Oral Investigations 15:119-121, 2011
Visnapuu V, Peltonen S, Ellilä T, Kerosuo E, Väänänen K, Happonen R-P, Peltonen J: Sexual Dimorphism in NF1: Periapical Cemental Dysplasia is Common in Women with NF1. Eur J Med Genet. 50(4):274-80, 2007
Visnapuu V, Peltonen S, Tammisalo T, Peltonen J, Happonen R-P: Radiographical findings in the jaws of NF1 patients. J Oral Maxillofac Surg 70(6):1351-7, 2012
Jääsaari P, Visnapuu V, Nyström M, Peltonen S, Peltonen J, Happonen RP. Dental age in patients with neurofibromatosis 1. Eur J Oral Sci 120(6):549-52, 2012
Alivuotila L, Hakokari J, Visnapuu V, Korpijaakko-Huuhka AM, Aaltonen O, Happonen R-P, Peltonen S, and Peltonen J: Speech characteristics in neurofibromatosis type 1. Am J Med Genet A 152A:42-51, 2010
Bone abnormalities:
Heervä E, Huilaja L, Leinonen P, Peltonen S and Peltonen J: Follow-Up of Six Patients with Neurofibromatosis 1-Related Osteoporosis Treated with Alendronate for 23 Months. Calcif Tissue Int Calcif Tissue Int 94:608-612, 2014
Heervä E, Koffert A, Jokinen E, Kuorilehto T, Peltonen S, Aro HT and Peltonen J: A controlled register based study of 460 neurofibromatosis 1 (NF1) patients: Increased fracture risk in children and adults over 41 years. J Bone Miner Res 27:2333-2337, 2012