Marja Hietala


Adjunct Professor, Institute of Biomedicine (Institute of Biomedicine)

mahehi@utu.fi
+358 0 233 3726
+358 50 520 1822

Kiinamyllynkatu 10
Turku





Publications
Go to first page Go to previous page 1 of 2 Go to next page Go to last page

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 Journal article)

Huntingtonin tauti (2019)
Duodecim
Jussi O. T. Sipilä, Valtteri Kaasinen, Marja Hietala, Markku Päivärinta, Kari Majamaa
(
A2 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 Journal article – refereed)

Särö-X-esimutaatio-oireyhtymä (FXTAS) - magneettikuvauksesta apua diagnosointiin (2019)
Duodecim
Jokela M, Hietala M, Karhu J, Martikainen MH, Kaasinen V
(
D1 Article in a trade journal)

A 69-year-old woman with Coffin-Siris syndrome (2018)
American Journal of Medical Genetics Part A
Määttänen L., Hietala M., Ignatius J., Arvio M.
(
A1 Journal article – refereed)

Paraneeko terveys geenitesteillä? (2018)
Työterveyslääkäri
Marja Hietala
(
D1 Article in a trade journal)

A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency (2017)
eLife
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
(
A1 Journal article – refereed)

Food allergy in a child with de novo KAT6A mutation (2017)
Clinical and Translational Allergy
Elenius Varpu, Lähdesmäki Tuire, Hietala Marja, Jartti Tuomas
(
B1 Journal article)

SNCA mutation p.Ala53Glu is derived from a common founder in the Finnish population (2017)
Neurobiology of Aging
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
(
A1 Journal article – refereed)

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
(
A1 Journal article – refereed)

Clinical and imaging findings in Parkinson's disease associated with the A53E SNCA mutation (2015) Martikainen MH, Päivärinta M, Hietala M, Kaasinen V
(
A1 Journal article – refereed)

Epidemiology of Huntington's disease in Finland (2015)
Parkinsonism and Related Disorders
Jussi O.T. Sipilä, Marja Hietala, Ari Siitonen, Markku Päivärinta, Kari Majamaa
(
A1 Journal article – refereed)

PARK2-geenin mutaatioon liittyvä Parkinsonin tauti (2015)
Duodecim
Kaasinen V, Hietala M, Kuoppamäki M
(
A1 Journal article – refereed)

Molecular Analysis of Two Novel Missense Mutations in the GDF5 Proregion That Reduce Protein Activity and Are Associated with Brachydactyly Type C (2014)
Journal of Molecular Biology
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
(
A1 Journal article – refereed)

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
(
A1 Journal article – refereed)

Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene (2013)
Blood
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
(
A1 Journal article – refereed)

Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI) (2012)
Molecular Genetics and Metabolism
Tringham M, Kurko J, Tanner L, Tuikkala J, Nevalainen OS, Niinikoski H, Nanto-Salonen K, Hietala M, Simell O, Mykkanen J
(
A1 Journal article – refereed)

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
(
A1 Journal article – refereed)

Lastentaudit ja periytyminen (2010) Lastentaudit Penttinen M, Hietala M
(
D2 Article in a professional research book)

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
(
A1 Journal article – refereed)


Last updated on 2019-21-09 at 02:18