M
Marja Hietala
Researcher at Turku University Hospital
Publications - 48
Citations - 3080
Marja Hietala is an academic researcher from Turku University Hospital. The author has contributed to research in topics: Genetic testing & Mutation. The author has an hindex of 22, co-authored 46 publications receiving 2862 citations. Previous affiliations of Marja Hietala include University of Turku.
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Journal ArticleDOI
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
Ian Tomlinson,Alam Na,Andrew Rowan,Ella Barclay,Emma Jaeger,David P. Kelsell,Irene M. Leigh,Gorman P,H. Lamlum,Shamima Rahman,Roylance Rr,Simon E. Olpin,Steve Bevan,Karen Barker,N Hearle,Richard S. Houlston,Maija Ht Kiuru,Rainer Lehtonen,Auli Karhu,Susa Vilkki,Päivi Laiho,Eklund C,Outi Vierimaa,Kristiina Aittomäki,Marja Hietala,Pertti Sistonen,Anders Paetau,Reijo Salovaara,Riitta Herva,Launonen,Lauri A. Aaltonen +30 more
TL;DR: It is shown that a gene that predisposes to multiple fibroids, cutaneous leiomyomata and renal cell carcinoma is mapped to chromosome 1q42, and that this gene encodes fumarate hydratase, an enzyme of the tricarboxylic acid cycle.
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Familial Cutaneous Leiomyomatosis Is a Two-Hit Condition Associated with Renal Cell Cancer of Characteristic Histopathology
Maija Ht Kiuru,Virpi Launonen,Marja Hietala,Kristiina Aittomäki,Outi Vierimaa,Reijo Salovaara,Johanna Arola,Eero Pukkala,Pertti Sistonen,Riitta Herva,Lauri A. Aaltonen +10 more
TL;DR: Clinical, histopathological, and molecular data suggest that MCL and HLRCC are a single disease with a variable phenotype and the possibility that members of leiomyomatosis families are predisposed to renal cell cancer should be taken into account.
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Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes
Juliane Müller,Agnes Herczegfalvi,Juan J. Vílchez,Jaume Colomer,Linda L. Bachinski,V. Mihaylova,Manuela Santos,Ulrike Schara,Marcus Deschauer,Michael Shevell,Chantal Poulin,Ana Isabel Dias,Ana Soudo,Marja Hietala,Tuula Äärimaa,Ralf Krahe,Veronika Karcagi,Angela Huebner,David Beeson,Angela Abicht,Hanns Lochmüller +20 more
TL;DR: Clinical and molecular genetic data of 14 patients from 12 independent kinships with 13 different mutations in the DOK7 gene are presented, providing evidence for a crucial role of Dok-7 in maintaining synaptic structure in congenital myasthenic syndromes.
Journal Article
Attitudes toward genetic testing among the general population and relatives of patients with a severe genetic disease: a survey from Finland.
TL;DR: The results of the study indicate that both the Finnish population in general and family members of AGU patients have a favorable attitude toward genetic testing, and it is predicted that future genetic testing programs will most probably be met with a high acceptance rate by the Finns.
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PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome
Peter Krawitz,Yoshiko Murakami,Angelika Rieß,Marja Hietala,Ulrike Krüger,Na Zhu,Taroh Kinoshita,Stefan Mundlos,Stefan Mundlos,Jochen Hecht,Jochen Hecht,Peter N. Robinson,Peter N. Robinson,Denise Horn +13 more
TL;DR: It is shown that an impairment of GPI-anchor remodeling also causes HPMRS and it is concluded that targeted sequencing of the genes encoding proteins in the GPI -anchor-synthesis pathway is an effective diagnostic approach for this subclass of CDGs.