Marja Hietala - UTU Research Portal

Marja Hietala

- Docent,
Institute of Biomedicine (Faculty of Medicine)

mahehi@utu.fi

+358 50 520 1822

Kiinamyllynkatu 10

Turku

Publications

2 of 4

Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome (2020)
- European Journal of Human GeneticsAmerican Journal of Medical Genetics Part A
Tischkowitz Marc, Colas Chrystelle, Pouwels Sjak, Hoogerbrugge Nicoline; PHTS Guideline Development Group & The European Reference Network GENTURIS
(A1 Refereed original research article in a scientific journal)
Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes (2020)
- European Journal of Human Genetics
Frebourg Thierry, Lagercrantz Svetlana Bajalica, Oliveira Carla, Magenheim Rita, Evans D Gareth; European Reference Network GENTURIS
(A1 Refereed original research article in a scientific journal)
Reply to Kratz et al. (2020)
- European Journal of Human Genetics
Frebourg Thierry, Lagercrantz Svetlana Bajalica, Oliveira Carla, Magenheim Rita, Evans D Gareth; the European Reference Network GENTURIS
(B1 Non-refereed article in a scientific journal)
Wilson's Disease in Finland: A Nationwide Population‐Based Study (2020)
- Movement Disorders
Jussi O.T. Sipilä, Marja Hietala, Ville Kytö, Valtteri Kaasinen
(A1 Refereed original research article in a scientific journal)
Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes (2019)
- Familial Cancer
Vos JR, Giepmans L, Rohl C, Geverink N, Hoogerbrugge N, Ligtenberg M, Kets M, Sijmons R, Evans G, Woodward E, Tischkowitz M, Maher E, Steinke-Lange V, Holinski-Feder E, Frebourg T, Houdayer C, Ferner RE, Lubinski J, Ertmanska K, Lagercrantz SB, Tham E, Guillermo IB, Capella G, Vidal JB, Lazaro C, Balmana J, Bours V, Legius E, Wolkenstein P, Melegh B, Oliveira C, Teixeira M, Poppe B, Claes K, Hernandez HS, Aretz S, Spier I, Oostenbrink R, Krajc M, Blatnik A, Schrock E, Peltonen S, Hietala M; on behalf of ERN GENTURIS
(B1 Non-refereed article in a scientific journal)
HTT haplogroups in Finnish patients with Huntington disease (2019)
- Neurology-Genetics
Susanna Ylönen, Jussi O.T. Sipilä, Marja Hietala, Kari Majamaa
(A1 Refereed original research article in a scientific journal)
Huntingtonin tauti (2019)
- Duodecim
Jussi O. T. Sipilä, Valtteri Kaasinen, Marja Hietala, Markku Päivärinta, Kari Majamaa
(A2 Refereed review article in a scientific journal )
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia (2019)
- JCI Insight
Wehrle A, Witkos TM, Unger S, Schneider J, Follit JA, Hermann J, Welting T, Fano V, Hietala M, Vatanavicharn N, Schoner K, Spranger J, Schmidts M, Zabel B, Pazour GJ, Bloch-Zupan A, Nishimura G, Superti-Furga A, Lowe M, Lausch E
(A1 Refereed original research article in a scientific journal)
Särö-X-esimutaatio-oireyhtymä (FXTAS) - magneettikuvauksesta apua diagnosointiin (2019)
- Duodecim
Jokela M, Hietala M, Karhu J, Martikainen MH, Kaasinen V
(D1 Article in a professional journal)
A 69-year-old woman with Coffin-Siris syndrome (2018)
Määttänen L., Hietala M., Ignatius J., Arvio M.
(A1 Refereed original research article in a scientific journal)