Maria Haanpää - UTU Research Portal

Maria Haanpää

Institute of Biomedicine (Faculty of Medicine)

maria.k.haanpaa@utu.fi

Areas of expertise

Expertese

Publications

2 of 2

Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement (2022)
- Genetics in Medicine
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)
- Human Molecular Genetics
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)
- JBMR Plus
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)
- Duodecim
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)
- Duodecim
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)
- Clinical Case Reports
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)
Severe ulcerative proctitis, pyoderma gangrenosum, hidradenitis suppurativa and fever in a patient with a rare variant of the PSTPIP1 gene (2021)
- Clinical and Experimental Dermatology
Hieta Niina, Nuutinen Heikki, Roivas Jere, Salminen Kimmo, Kujari Harry, Talve Lauri, Toivonen Mia, Haanpää Maria K
(B1 Non-refereed article in a scientific journal)
Thinking outside "The Box": Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr (2021)
- American Journal of Medical Genetics Part A
Sanchez-Lara Pedro A, Grand Katheryn, Haanpää Maria K, Curry Cynthia J, Wang Raymond, Ezgu Fatih, Rose Catherine M, Burkardt Deepika D'Cunha, Conway Robert L, Relan Anju, Carey John C
(A2 Refereed review article in a scientific journal )
Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB) (2019)
- American Journal of Medical Genetics Part A
Arvio M, Määttänen L, Haanpää M, Lähdetie J
(A1 Refereed original research article in a scientific journal)
Identification of rare wnt1 osteoporosis patient (2017)
- Journal of Investigative Medicine
Haanpaa MK, Makitie R, Makitie O
(Other publication)
Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome (2017)
- American Journal of Medical Genetics Part A
Haanpaa M, Schlecht H, Batra G, Clayton-Smith J, Douzgou S
(A1 Refereed original research article in a scientific journal)
Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults (2016)
- Journal of Bone and Mineral Research
Makitie RE, Haanpaa M, Valta H, Pekkinen M, Laine CM, Lehesjoki AE, Schalin-Jantti C, Makitie O
(A1 Refereed original research article in a scientific journal)