Marja Hietala - UTU Research Portal

Marja Hietala

- Docent,
Institute of Biomedicine (Faculty of Medicine)

mahehi@utu.fi

+358 50 520 1822

Kiinamyllynkatu 10

Turku

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Paraneeko terveys geenitesteillä? (2018)
- TyöterveyslääkäriClinical and Translational Allergy
Marja Hietala
A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiencySNCA mutation p.Ala53Glu is derived from a common founder in the Finnish population (2017)
- eLifeNeurobiology of Aging
Fouquet B, Pawlikowska P, Caburet S, Guigon C, Mäkinen M, Tanner L, Hietala M, Urbanska K, Bellutti L, Legois B, Bessieres B, Gougeon A, Benachi A, Livera G, Rosselli F, Veitia RA, Misrashi M, Misrashi M
Food allergy in a child with de novo KAT6A mutation (2017)
Elenius Varpu, Lähdesmäki Tuire, Hietala Marja, Jartti Tuomas
(2017)
Pasanen P, Palin E, Pohjolan-Pirhonen R, Pöyhönen M, Rinne JO, Päivärinta M, Martikainen MH, Kaasinen V, Hietala M, Gardberg M, Saukkonen AM, Eerola-Rautio J, Kaakkola S, Lyytinen J, Tienari PJ, Paetau A, Suomalainen A, Myllykangas L
TSC2 c.1864C > T Variant Aassociated with Mild Cases of Tuberous Sclerosis Complex (2017)
- American Journal of Medical Genetics Part A
Farach LS, Gibson WT, Sparagana SP, Nellist M, Stumpel CTRM, Hietala M, Friedman E, Pearson DA, Creighton SP, Wagemans A, Segel R, Ben-Shalom E, Au KS, Northrup H
Clinical and imaging findings in Parkinson's disease associated with the A53E SNCA mutation (2015)
- Neurology-GeneticsDuodecim
Martikainen MH, Päivärinta M, Hietala M, Kaasinen V
Epidemiology of Huntington's disease in Finland (2015)
- Parkinsonism and Related DisordersJournal of Molecular Biology
Jussi O.T. Sipilä, Marja Hietala, Ari Siitonen, Markku Päivärinta, Kari Majamaa
PARK2-geenin mutaatioon liittyvä Parkinsonin tauti (2015)
Kaasinen V, Hietala M, Kuoppamäki M
Molecular Analysis of Two Novel Missense Mutations in the GDF5 Proregion That Reduce Protein Activity and Are Associated with Brachydactyly Type C (2014)
Stange Katja, Thieme Tino, Hertel Karen, Kuhfahl Silke, Janecke Andreas R., Piza-Katzer Hildegunde, Penttinen Maila, Hietala Marja, Dathe Katarina, Mundlos Stefan, Schwarz Elisabeth, Seemann Petra
PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome (2013)
- American Journal of Human Genetics
Krawitz PM, Murakami Y, Riess A, Hietala M, Kruger U, Zhu N, Kinoshita T, Mundlos S, Hecht J, Robinson PN, Horn D
Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene (2013)
- BloodMolecular Genetics and Metabolism
Saarinen S, Kaasinen E, Karjalainen-Lindsberg ML, Vesanen K, Aavikko M, Katainen R, Taskinen M, Kytola S, Leppa S, Hietala M, Vahteristo P, Aaltonen LA
Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI) (2012)
Tringham M, Kurko J, Tanner L, Tuikkala J, Nevalainen OS, Niinikoski H, Nanto-Salonen K, Hietala M, Simell O, Mykkanen J
High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results (2012)
- BMC Medical Genetics
Siggberg L, Sirpa AM, Tarja L, Kristiina A, ILARI S, Kati K, Paivi L, Marja H, Liisa M, Esa K, Maarit L, Janna S, Sakari K
Lastentaudit ja periytyminen (2010) Lastentaudit Penttinen M, Hietala M
Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations (2010)
- European Journal of Paediatric Neurology
Schara U, Christen H J, Durmus H, Hietala M, Krabetz K, Rodolico C, Schreiber G, Topaloglu H, Talim B, Voss W, Pihko H, Abicht A, Müller J S, Lochmüller H
(2010)
- Familial Cancer
Vahteristo P, KOSKI TA, Naatsaari L, KIURU M, KARHU A, HERVA R, Sallinen SL, Vierimaa O, BJORCK E, RICHARD S, Gardie B, BESSIS D, Van Glabeke E, BLANCO I, HOULSTON R, SENTER L, HIETALA M, AITTOMAKI K, AALTONEN LA, LAUNONEN V, Lehtonen R