Maria Haanpää
Areas of expertise
Expertese
Publications
- Detailed prenatal and postnatal MRI findings and clinical analysis of RAF1 in Noonan syndrome (2022)
- European Journal of Medical Genetics
Helenius Kjell, Parkkola Riitta, Arola Anita, Peltola Ville, Haanpää Maria K
(A1 Refereed original research article in a scientific journal)
- Laajojen geenitutkimusten sivu- ja sattumalöydökset (2022) Paakkola Teija, Keskinen Sini, Pohjola Pia, Toivonen Minna, Ridanpää Maaret, Hietala Marja, Haanpää Maria K.
(A2 Refereed review article in a scientific journal )
- Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement (2022) Micale Lucia, Morlino Silvia, Carbone Annalucia, Carissimo Annamaria, Nardella Grazia, Fusco Carmela, Palumbo Orazio, Schirizzi Annalisa, Russo Federica, Mazzoccoli Gianluigi, Breckpot Jeroen, De Luca Chiara, Ferraris Alessandro, Giunta Cecilia, Grammatico Paola, Haanpää Maria K, Mancano Giorgia, Forzano Giulia, Cacchiarelli Davide, Van Esch Hilde, Callewaert Bert, Rohrbach Marianne, Castori Marco
(A1 Refereed original research article in a scientific journal)
- Natural history of KBG syndrome in a large European cohort (2022) Loberti Lorenzo, Bruno Lucia Pia, Granata Stefania, Doddato Gabriella, Resciniti Sara, Fava Francesca, Carullo Michele, Rahikkala Elisa, Jouret Guillaume, Menke Leonie A., Lederer Damien, Vrielynck Pascal, Ryba Lukás, Brunetti-Pierri Nicola, Lasa-Aranzasti Amaia, Cueto-González Anna Maria, Trujillano Laura, Valenzuela Irene, Tizzano Eduardo F., Spinelli Alessandro Mauro, Bruno Irene, Currò Aurora, Stanzial Franco, Benedicenti Francesco, Lopergolo Diego, Santorelli Filippo Maria, Aristidou Constantia, Tanteles George A., Maystadt Isabelle, Tkemaladze Tinatin, Reimand Tiia, Lokke Helen, Õunap Katrin, Haanpää Maria K., Holubová Andrea, Zoubková Veronika, Schwarz Martin, Zordania Riina, Muru Kai, Roht Laura, Tihveräinen Annika, Teek Rita, Thomson Ulvi, Atallah Isis, Superti-Furga Andrea, Buoni Sabrina, Canitano Roberto, Scandurra Valeria, Rossetti Annalisa, Grosso Salvatore, Battini Roberta, Baldassarri Margherita, Mencarelli Maria Antonietta, Lo Rizzo Caterina, Bruttini Mirella, Mari Francesca, Ariani Francesca, Renieri Alessandra, Pinto Anna Maria
(A1 Refereed original research article in a scientific journal)
- An ARHGAP25 variant links aberrant Rac1 function to early-onset skeletal fragility (2021) Mäkitie Riikka E., Henning Petra, Jiu Yaming, Kämpe Anders, Kogan Konstantin, Costantini Alice, Välimäki Ville-Valtteri, Medina-Gomez Carolina, Pekkinen Minna, Salusky Isidro B., Schalin-Jäntti Camilla, Haanpää Maria K., Rivadeneira Fernando, Bassett John H. Duncan, Williams Graham R., Lerner Ulf H., Pereira Renata C., Lappalainen Pekka, Mäkitie Outi
(A1 Refereed original research article in a scientific journal)
- Geeniohjatun syövän hoidon työryhmä hoitopäätösten apuna : Läntisen syöpäkeskuksen kokemus (2021) Alanne Erika, Orte Katri, Haanpää Maria, Kankuri-Tammilehto Minna, Silvoniemi Maria, Sundvall Maria, Hietanen Sakari, Boström Pia, Laine Jukka, Jaakkola Panu, Minn Heikki, Kallajoki Markku, Kairisto Veli, Elenius Klaus, Vihinen Pia
(D1 Article in a professional journal)
- Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe (2021)
- European Journal of Medical Genetics
Marmolejo David Humberto, Wong Mark Yu Zheng, Bajalica-Lagercrantz Svetlana, Tischkowitz Marc, Balmaña Judith; extended ERN-GENTURIS Thematic Group 3
(A1 Refereed original research article in a scientific journal)
- Perinnöllisyyslääkärin osuus syövän geenidiagnostiikassa - kokemukset Tyksistä ja muualta (2021) Kankuri-Tammilehto Minna, Pöyhönen Minna, Haanpää Maria
(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) Arvio Maria, Haanpää Maria, Pohjola Pia, Lähdetie Jaana
(A1 Refereed original research article in a scientific journal)
- Screening for Mutations in Isolated Central Hypothyroidism Reveals a Novel Mutation in Insulin Receptor Substrate 4 (2021)
- Frontiers in Endocrinology
Patyra Konrad, Makkonen Kristiina, Haanpää Maria, Karppinen Sinikka, Viikari Liisa, Toppari Jorma, Reeve Mary Pat, Kero Jukka
(A1 Refereed original research article in a scientific journal)
