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

1 of 2

Geneettiset seulonnat (2025) Lääketieteellinen genetiikka Lapatto, Risto; Hietala, Marja
(D2 Article in a professional compilation book)
Lähetä ajoissa, konsultoi herkästi - sikiö- ja alkiodiagnostiikan menetelmät tehokkaaseen käyttöön (2024)
- Duodecim
Tanner Laura, Soininen Reetta, Keski-Filppula Riikka, Toiminen Heidi, Rajala Katri, Hietala Marja, Saarela Tanja
(A2 Refereed review article in a scientific journal )
Lastentaudit ja periytyminen (2023) Lastentaudit Tanner Laura, Hietala Marja
(D2 Article in a professional compilation book)
Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant (2023)
- European Journal of Medical Genetics
Helenius Kjell, Ojala Liisa, Kainulainen Leena, Peltonen Sirkku, Hietala Marja, Pohjola Pia, Parikka Vilhelmiina
(A1 Refereed original research article in a scientific journal)
Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease (2023)
- Pediatric and Developmental Pathology
Keskinen Sini, Paakkola Teija, Mattila Mirjami, Hietala Marja, Koillinen Hannele, Laine Jukka, Haanpää Maria K
(A1 Refereed original research article in a scientific journal)
Laajojen geenitutkimusten sivu- ja sattumalöydökset (2022)
- Duodecim
Paakkola Teija, Keskinen Sini, Pohjola Pia, Toivonen Minna, Ridanpää Maaret, Hietala Marja, Haanpää Maria K.
(A2 Refereed review article in a scientific journal )
Novel germline variant in the histone demethylase and transcription regulator KDM4C induces a multi-cancer phenotype (2022)
- Journal of Medical Genetics
Katainen Riku, Donner Iikki, Räisänen Maritta, Berta Davide, Kuosmanen Anna, Kaasinen Eevi, Hietala Marja, Aaltonen Lauri A.
(A1 Refereed original research article in a scientific journal)
Tietoa Huntington-perheille ja hoitohenkilökunnalle (2022) Martikainen Kirsi, Hietala Marja, Koivunen Salla, Nuppula Emmi
(E2 Popularised book )
Wilsonin tauti - uutta ja vanhaa (2021)
- Duodecim
Sipilä Jussi O, Hietala Marja, Kaasinen Valtteri
(A2 Refereed review article in a scientific journal )
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome (2020)
- European Journal of Human Genetics
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)
- American Journal of Medical Genetics Part A
Määttänen L., Hietala M., Ignatius J., Arvio M.
(A1 Refereed original research article in a scientific journal)
Paraneeko terveys geenitesteillä? (2018)
- Työterveyslääkäri
Marja Hietala
(D1 Article in a professional journal)