Pia Pohjola - UTU Research Portal

Pia Pohjola

Faculty of Medicine (University of Turku)

pia.pohjola@utu.fi

Publications

Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population (2024)
- International Journal of Audiology
Kraatari-Tiri, Minna; Pykälainen, Tyrni; Pohjola, Pia; Häkli, Sanna; Rahikkala, Elisa
(A1 Refereed original research article in a scientific journal)
Non-invasiivinen prenataalitesti (NIPT) (2024)
- Kliin lab
Nurmi, Miina; Haanpää, Maria; Pohjola, Pia
(D1 Article in a professional journal)
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles (2024)
- Genome Medicine
Bassani, Sissy; Chrast, Jacqueline; Ambrosini, Giovanna; Voisin, Norine; Schütz, Frédéric; Brusco, Alfredo; Sirchia, Fabio; Turban, Lydia; Schubert, Susanna; Abou Jamra, Rami; Schlump, Jan-Ulrich; DeMille, Desiree; Bayrak-Toydemir, Pinar; Nelson, Gary Rex; Wong, Kristen Nicole; Duncan, Laura; Mosera, Mackenzie; Gilissen, Christian; Vissers, Lisenka E. L. M.; Pfundt, Rolph; Kersseboom, Rogier; Yttervik, Hilde; Hansen, Geir Åsmund Myge; Smeland, Marie Falkenberg; Butler, Kameryn M.; Lyons, Michael J.; Carvalho, Claudia M. B.; Zhang, Chaofan; Lupski, James R.; Potocki, Lorraine; Flores-Gallegos, Leticia; Morales-Toquero, Rodrigo; Petit, Florence; Yalcin, Binnaz; Tuttle, Annabelle; Elloumi, Houda Zghal; McCormick, Lane; Kukolich, Mary; Klaas, Oliver; Horvath, Judit; Scala, Marcello; Iacomino, Michele; Operto, Francesca; Zara, Federico; Writzl, Karin; Maver, Aleš; Haanpää, Maria K.; Pohjola, Pia; Arikka, Harri; Kievit, Anneke J. A.; Calandrini, Camilla; Iseli, Christian; Guex, Nicolas; Reymond, Alexandre
(A1 Refereed original research article in a scientific journal)
BRCA-geenivirhe löytyy kymmenesosasta rinta- ja munasarjasyöpäsuvuista Tyksin erva-alueella (2023)
- Lääkärilehti
Pallonen Terhi, Pohjola Pia, Lempiäinen Salla, Joutsiniemi Titta, Kankuri-Tammilehto Minna
(A1 Refereed original research article in a scientific journal)
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)
Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome (2023)
- Molecular syndromology
Rahikkala Elisa, Väisänen Taneli, Ojala Liisa, Pohjola Pia, Toivonen Minna, Parkkola Riitta, Haanpää Maria K.
(A2 Refereed review article in a scientific journal )
Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants (2022)
- Journal of Clinical Medicine
Kraatari-Tiri Minna, Haanpää Maria K., Willberg Tytti, Pohjola Pia, Keski-Filppula Riikka, Kuismin Outi, Moilanen Jukka S., Häkli Sanna, Rahikkala Elisa
(A1 Refereed original research article in a scientific journal)
Genetic, clinic and histopathologic characterization of BRCA-associated hereditary breast and ovarian cancer in southwestern Finland (2022)
- Scientific Reports
Pallonen Terhi Aino-Sofia, Lempiäinen Salla Maria Matleena, Joutsiniemi Titta Kristiina, Aaltonen Riitta Irmeli, Pohjola Pia Erika, Kankuri-Tammilehto Minna Kristiina
(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 )
Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome (2021)
- Clinical Case Reports
Arvio Maria, Haanpää Maria, Pohjola Pia, Lähdetie Jaana
(A1 Refereed original research article in a scientific journal)
Challenges raised by cross-border testing of rare diseases in the European union (2016)
- European Journal of Human Genetics
Pohjola P, Hedley V, Bushby K, Kaariainen H
(A1 Refereed original research article in a scientific journal)
Apolipoprotein E, brain injury and neurodevelopmental outcome of children (2013)
- Genes, Brain and Behavior
Korja M, Ylijoki M, Lapinleimu H, Pohjola P, Matomaki J, Kusmierek H, Mahlman M, Rikalainen H, Parkkola R, Kaukola T, Lehtonen L, Hallman M, Haataja L
(A1 Refereed original research article in a scientific journal)
Translation of a research-based genetic test on rare syndrome into clinical service testing with Sotos syndrome as an example (2012)
- Genetic Testing and Molecular Biomarkers
Pohjola P, Peippo M, Penttinen MT, Elenius K, Kääriäinen H
(A1 Refereed original research article in a scientific journal)
Terminal 3p deletions in two families-correlation between molecular karyotype and phenotype (2010)
- American Journal of Medical Genetics Part A
Pohjola P, de Leeuw N, Penttinen M, Kääriäinen H
(A1 Refereed original research article in a scientific journal)