Outimaija Mäkitie (O Mäkitie, Outi Mäkitie, Outi M Makitie, Outi Makitie)

Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 44

Top Topics

Genome Wide Association

Dna Methylation

Bone Mineral Density

Top Venues

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

American journal of medical genetics. Part A

The Journal of clinical endocrinology and metabolism

This page only lists publications with an associated author ORCID identifier.

Publications

Hyoungjun Ham, Huie Jing, Ian T Lamborn, Megan M Kober, Alexey Koval, Yamina A Berchiche, D Eric Anderson, Kirk M Druey, Judith N Mandl, Bertrand Isidor, Carlos R Ferreira, Alexandra F Freeman, Sundar Ganesan, Meliha Karsak, Peter J Mustillo, Juliana Teo, Zarazuela Zolkipli-Cunningham, Nicolas Chatron, Francois Lecoquierre, Andrew J Oler, Jana Pachlopnik Schmid, Douglas B Kuhns, Xuehua Xu, Fabian H Hauck, Waleed Al Herz, Matias Wagner, Paulien Anna Terhal, Mari Muurinen, Vincent Barlogis, Phillip Cruz, Jeffrey Danielson, Helen Stewart, Petra Loid, Sebastian Rading, Boris Keren, Rolph Pfundt, Kol A Zarember, Katharina Vill, Lorraine Potocki, Kenneth N Olivier, Gaëtan Lesca, Laurence Olivier-Faivre, Melanie Wong, Anne Puel, Janet Chou, Maud Tusseau, Niki M Moutsopoulos, Helen F Matthews, Cas Simons, Ryan J Taft, Ariane G Soldatos, Etienne Masle-Farquhar, Stefania Pittaluga, Robert Brink, Danielle L Fink, Heidi H Kong, Juraj Kabat, Woo Sung Kim, Tatjana Bierhals, Kazuyuki Meguro, Amy P Hsu, Jingwen Gu, Jennifer Stoddard, Benito Banos-Pinero, Maria Slack, Giampaolo Trivellin, Benoit Mazel, Maarja Soomann, Samuel Li, Val J Watts, Constantine A Stratakis, Maria F Rodriguez-Quevedo, Ange-Line Bruel, Marita Lipsanen-Nyman, Paul Saultier, Rashmi Jain, Daphne Lehalle, Daniel Torres, Kathleen E Sullivan, Sébastien Barbarot, Axel Neu, Yannis Duffourd, Morgan N Similuk, Kirsty McWalter, Pierre Blanc, Stephane Bezieau, Tian Jin, Raif S Geha, Jean Laurent Casanova, Outimaija Mäkitie, Christian Kubisch, Patrick Edery, John Chrisodoulou, Ronald N Germain, Christopher C Goodnow, Thomas P Sakmar, Daniel D Billadeau, Sébastien Küry, Vladimir L Katanaev, Yu Zhang, Michael J Lenardo, Helen C Su
Germline mutations in a G protein identify signaling cross-talk in T cells. Science (New York, N.Y.) 385 (6715) (2024)
Natalja Jackmann, Jan Gustafsson, Pauliina Utriainen, Per Magnusson, Arja Harila, Diana Atanasova, Carina Rinaldo, Per Frisk, Outimaija Mäkitie
Demographic and disease-related factors impact bone turnover and vitamin D in children with hemato-oncological diseases. JBMR plus 8 (4) (2024)
Viivi Saari, Venla Alanko, Elina Holopainen, Outimaija Mäkitie, Saila Laakso
Progressive Impairment of Prepubertal Growth in Children With APECED. The Journal of clinical endocrinology and metabolism (2024)
Natalja Jackmann, Jan Gustafsson, Pauliina Utriainen, Per Magnusson, Arja Harila, Diana Atanasova, Carina Rinaldo, Per Frisk, Outimaija Mäkitie
Demographic and disease-related factors impact bone turnover and vitamin D in children with hemato-oncological diseases. JBMR plus 8 (4) (2024)
Sheila Unger, Carlos R Ferreira, Geert R Mortier, Houda Ali, Debora Romeo Bertola, Alistair Calder, Daniel H Cohn, Valerie Cormier-Daire, Katta Mohan Girisha, Christine Hall, Deborah Krakow, Outimaija Mäkitie, Stefan Mundlos, Gen Nishimura, Stephen P Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V Reid Sutton, Matthew L Warman, Andrea Superti-Furga
Nosology of genetic skeletal disorders: 2023 revision. American journal of medical genetics. Part A (2023)
Safeer Ahmad, Muhammad Zeeshan Ali, Muhammad Muzammal, Amjad Ullah Khan, Muhammad Ikram, Mari Muurinen, Shabir Hussain, Petra Loid, Muzammil Ahmad Khan, Outimaija Mäkitie
Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly. Genes 14 (4) (2023)
Freja Pontán, Helena Henrietta Hauta-Alus, Saara Valkama, Jenni Rosendahl, Maria Enlund-Cerullo, Sture Andersson, Outimaija Mäkitie, Elisa Holmlund-Suila
Alkaline phosphatase and hyperphosphatasemia in vitamin D trial in healthy infants and toddlers. The Journal of clinical endocrinology and metabolism (2023)
Emilia Träskilä, Elina Holopainen, Mikko I Mäyränpää, Jorma Toppari, Outimaija Mäkitie, Saila Laakso
Pubertal development and hypogonadism in males with APECED - a retrospective study. European journal of endocrinology (2023)
Safeer Ahmad, Muhammad Zeeshan Ali, Muhammad Muzammal, Amjad Ullah Khan, Muhammad Ikram, Mari Muurinen, Shabir Hussain, Petra Loid, Muzammil Ahmad Khan, Outimaija Mäkitie
Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly. Genes 14 (4) (2023)
Safeer Ahmad, Muhammad Zeeshan Ali, Muhammad Muzammal, Amjad Ullah Khan, Muhammad Ikram, Mari Muurinen, Shabir Hussain, Petra Loid, Muzammil Ahmad Khan, Outimaija Mäkitie
Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly. Genes 14 (4) (2023)
Joonatan Borchers, Eero Pukkala, Outimaija Mäkitie, Saila Laakso
Epidemiology and causes of primary adrenal insufficiency in children: A population-based study. The Journal of clinical endocrinology and metabolism (2023)
Maria Nethander, Sofia Movérare-Skrtic, Anders Kämpe, Eivind Coward, Ene Reimann, Louise Grahnemo, Éva Borbély, Zsuzsanna Helyes, Thomas Funck-Brentano, Martine Cohen Solal, Juha Tuukkanen, Antti Koskela, Jianyao Wu, Lei Li, Tianyuan Lu, Maiken E Gabrielsen, null null, Reedik Mägi, Mari Hoff, Ulf H Lerner, Petra Henning, Henrik Ullum, Christian Erikstrup, Soren Brunak, null null, Arnulf Langhammer, Tiinamaija Tuomi, Asmundur Oddsson, Kari Stefansson, Ulrika Pettersson-Kymmer, Sisse Rye Ostrowski, Ole Birger Vesterager Pedersen, Unnur Styrkarsdottir, Outimaija Mäkitie, Kristian Hveem, John Brent Richards, Claes Ohlsson
An atlas of genetic determinants of forearm fracture. Nature genetics (2023)
Adriana Costa, Andreia Martins, Catarina Machado, Elena Lundberg, Ola Nilsson, Fan Wang, Alice Costantini, Symeon Tournis, Jakob Hoeppner, Corinna Grasemann, Outimaija Mäkitie
PLS3 Mutations in X-Linked Osteoporosis: Clinical and Genetic Features in Five New Families. Calcified tissue international (2023)
Melissa Marie Formosa, Maria A Christou, Outimaija Mäkitie
Bone fragility and osteoporosis in children and young adults. Journal of endocrinological investigation (2023)
Safeer Ahmad, Muhammad Zeeshan Ali, Muhammad Muzammal, Amjad Ullah Khan, Muhammad Ikram, Mari Muurinen, Shabir Hussain, Petra Loid, Muzammil Ahmad Khan, Outimaija Mäkitie
Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly. Genes 14 (4) (2023)
Nils Landegren, Norito Ishii, Maribel Aranda-Guillén, Hörður Ingi Gunnarsson, Fabian Sardh, Åsa Hallgren, Mona Ståhle, Eva Hagforsen, Maria Bradley, Per-Henrik D Edqvist, Frederik Pontén, Outimaija Mäkitie, Liv Eidsmo, Lars Norlén, Adnane Achour, Ingrid Dahlbom, Ilma R Korponay-Szabo, Daniel Agardh, Mohammad Alimohammadi, Daniel Eriksson, Takashi Hashimoto, Olle Kämpe
A gene-centric approach to biomarker discovery identifies transglutaminase 1 as an epidermal autoantigen. Proceedings of the National Academy of Sciences of the United States of America 118 (51) (2022)
Dylan J M Bergen, Antonio Maurizi, Melissa Marie Formosa, Georgina L K McDonald, Ahmed El-Gazzar, Neelam Hassan, Maria Luisa Brandi, Jose A Riancho, Fernando Rivadeneira, Evangelia E Ntzani, Emma L Duncan, Celia L Gregson, Douglas P Kiel, M Carola Zillikens, Luca Sangiorgi, Wolfgang Högler, Ivan Duran, Outimaija Mäkitie, Wim Van Hul, Gretl Hendrickx
High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research (2022)
Samuel Sandboge, Juho Kuula, Johan Björkqvist, Petteri Hovi, Outimaija Mäkitie, Kajantie Eero
Bone mineral density in very low birthweight adults-A sibling study. Paediatric and perinatal epidemiology 36 (5) (2022)
Alice Costantini, Riikka E Makitie, Markus A Hartmann, Nadja Fratzl-Zelman, M Carola Zillikens, Uwe Kornak, Kent Søe, Outimaija Mäkitie
Early-Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 37 (9) (2022)
Tolulope Sokoya, Jan Parolek, Mads Møller Foged, Dmytro I Danylchuk, Manuel Bozan, Bingshati Sarkar, Angelika Hilderink, Michael Philippi, Lorenzo D Botto, Paulien A Terhal, Outimaija Mäkitie, Jacob Piehler, Yeongho Kim, Christopher G Burd, Andrey S Klymchenko, Kenji Maeda, Joost C M Holthuis
Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway. eLife 11 (2022)
Madeline Louise Reilly, Noor Ul Ain, Mari Muurinen, Alice Tata, Céline Huber, Marleen Simon, Tayyaba Ishaq, Nick Shaw, Salla Rusanen, Minna Pekkinen, Wolfgang Högler, Maarten F C M Knapen, Myrthe van den Born, Sophie Saunier, Sadaf Naz, Valerie Cormier-Daire, Alexandre Benmerah, Outimaija Mäkitie
Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 37 (9) (2022)
Mari Muurinen, Fulya Taylan, Symeon Tournis, Jesper Eisfeldt, Alexia Balanika, Heleni Vastardis, Sirpa Ala-Mello, Outimaija Mäkitie, Alice Costantini
Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass. JBMR plus 6 (8) (2022)
Helena Henrietta Hauta-Alus, Elisa M Holmlund-Suila, Saara M Valkama, Maria Enlund-Cerullo, Jenni Rosendahl, Ryan F Coghlan, Sture Andersson, Outimaija Mäkitie
Collagen X Biomarker (CXM), Linear Growth, and Bone Development in a Vitamin D Intervention Study in Infants. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 37 (9) (2022)
Joonatan Borchers, Outimaija Mäkitie, Saila Laakso
Infections and demanding endocrine care contribute to increased mortality in patients with APECED. European journal of endocrinology 185 (5) (2021)
Outimaija Mäkitie, M Carola Zillikens
Early-Onset Osteoporosis. Calcified tissue international (2021)
Saila Laakso, Elina Holopainen, Corrado Betterle, Viivi Saari, Elinor Vogt, Monica M Schmitt, Karen K Winer, Maria Kareva, Chiara Sabbadin, Eystein S Husebye, Elizaveta Orlova, Michail S Lionakis, Outimaija Mäkitie
Pregnancy outcome in women with APECED (APS-1) - A multicenter study on 43 females with 83 pregnancies. The Journal of clinical endocrinology and metabolism (2021)
Laura Koljonen, Maria Enlund-Cerullo, Helena Henrietta Hauta-Alus, Elisa Holmlund-Suila, Saara Valkama, Jenni Rosendahl, Sture Andersson, Minna Pekkinen, Outimaija Mäkitie
Phosphate Concentrations and Modifying Factors in Healthy Children From 12 to 24 Months of Age. The Journal of clinical endocrinology and metabolism 106 (10) (2021)
Riikka E Makitie, Stéphane Blouin, Ville-Valtteri Välimäki, Sandra Pihlström, Kirsi Määttä, Minna Pekkinen, Nadja Fratzl-Zelman, Outimaija Mäkitie, Markus A Hartmann
Abnormal Bone Tissue Organization and Osteocyte Lacunocanalicular Network in Early-Onset Osteoporosis Due to SGMS2 Mutations. JBMR plus 5 (11) (2021)
Helmi Härkönen, Petra Loid, Outimaija Mäkitie
SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature. Genes 12 (5) (2021)
Fahad Aljuraibah, Justine Bacchetta, Maria Luisa Brandi, Pablo Florenzano, Muhammad Kassim Javaid, Outimaija Mäkitie, Adalbert Raimann, Mariano Rodriguez, Heide Siggelkow, Dov Tiosano, Marc Vervloet, Carsten Alexander Wagner
An expert perspective on phosphate dysregulation with a focus on chronic hypophosphatemia. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research (2021)
Riikka E Makitie, Petra Henning, Yaming Jiu, Anders Kämpe, Konstantin Kogan, Alice Costantini, Ville-Valtteri Välimäki, Carolina Medina-Gomez, Minna Pekkinen, Isidro B Salusky, Camilla Schalin-Jäntti, Maria K Haanpää, Fernando Rivadeneira, John H Duncan Bassett, Graham R Williams, Ulf H Lerner, Renata C Pereira, Pekka Lappalainen, Outimaija Mäkitie
An ARHGAP25 variant links aberrant Rac1 function to early-onset skeletal fragility. JBMR plus 5 (7) (2021)
Riikka E Makitie, Matthias Hackl, Moritz Weigl, Amelie Frischer, Anders Kämpe, Alice Costantini, Johannes Grillari, Outimaija Mäkitie
Unique, Gender-Dependent Serum microRNA Profile in PLS3 Gene-Related Osteoporosis. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 35 (10) (2020)
Noor U Ain, Niaz Muhammad, Mehdi Dianatpour, Marta Baroncelli, Muddassar Iqbal, Mohammad A F Fard, Ihtisham Bukhari, Sufian Ahmed, Massoumeh Hajipour, Zahra Tabatabaie, Hamidreza Foroutan, Ola Nilsson, Mohammad A Faghihi, Outimaija Mäkitie, Sadaf Naz
Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature. Human mutation 42 (1) (2020)
Sini Skarp, Ji-Han Xia, Qin Zhang, Marika Löija, Alice Costantini, Lloyd W Ruddock, Outimaija Mäkitie, Gong-Hong Wei, Minna Männikkö
Exome Sequencing Reveals a Phenotype Modifying Variant in ZNF528 in Primary Osteoporosis With a COL1A2 Deletion. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 35 (12) (2020)
Vladimir M Kenis, Eugeniy Melchenko, Ilya Mazunin, Minna Pekkinen, Outimaija Mäkitie
A new family with epiphyseal chondrodysplasia type Miura. American journal of medical genetics. Part A 185 (1) (2020)
Antti Aarni Mäkitie, Iida Tuokkola, Göran Laurell, Outimaija Mäkitie, Kerry Olsen, Robert P Takes, Ewa Florek, Krzysztof Szyfter, Cornelis F M Sier, Alfio Ferlito
Vitamin D in Head and Neck Cancer: a Systematic Review. Current oncology reports 23 (1) (2020)
Alice Costantini, Jessica J Alm, Francesca Tonelli, Helena Valta, Céline Huber, Anh N Tran, Valentina Daponte, Nadi Kirova, Yong-Uk Kwon, Jung Yun Bae, Woo Yeong Chung, Shengjiang Tan, Yves Sznajer, Gen Nishimura, Tuomas Näreoja, Alan J Warren, Valerie Cormier-Daire, Ok-Hwa Kim, Antonella Forlino, Tae-Joon Cho, Outimaija Mäkitie
Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 36 (2) (2020)
Despoina Manousaki, Anders Kämpe, Vincenzo Forgetta, Riikka E Makitie, Ghalib Bardai, Alexandre Belisle, Rui Li, Sture Andersson, Outimaija Mäkitie, Frank Rauch, John Brent Richards
Increased Burden of Common Risk Alleles in Children With a Significant Fracture History. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 35 (5) (2020)
Riikka E Makitie, Anders Kämpe, Alice Costantini, Jessica J Alm, Per Magnusson, Outimaija Mäkitie
Biomarkers in WNT1 and PLS3 Osteoporosis: Altered Concentrations of DKK1 and FGF23. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 35 (5) (2020)
Anders Kämpe, Maria Enlund-Cerullo, Saara Valkama, Elisa Holmlund-Suila, Jenni Rosendahl, Helena Henrietta Hauta-Alus, Minna Pekkinen, Sture Andersson, Outimaija Mäkitie
Genetic variation in GC and CYP2R1 affects 25-hydroxyvitamin D concentration and skeletal parameters: A genome-wide association study in 24-month-old Finnish children. PLoS genetics 15 (12) (2019)
Elina Holopainen, Svetlana Vakkilainen, Outimaija Mäkitie
Gynecologic health in cartilage-hair hypoplasia: A survey of 26 adult females. American journal of medical genetics. Part A 179 (2) (2018)
Petra Loid, Riikka Mäkitie, Alice Costantini, Heli Viljakainen, Minna Pekkinen, Outimaija Mäkitie
A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability. American journal of medical genetics. Part A 176 (9) (2018)
Andrea Merker, Luitgard Neumeyer, Niels Thomas Hertel, Giedre Grigelioniene, Outimaija Mäkitie, Klaus Mohnike, Lars Hagenäs
Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort. American journal of medical genetics. Part A 176 (8) (2018)
Lusine Nazaryan-Petersen, Jesper Eisfeldt, Maria Pettersson, Johanna Lundin, Daniel Nilsson, Josephine Wincent, Agne Lieden, Lovisa Lovmar, Jesper Ottosson, Jelena Gacic, Outimaija Mäkitie, Ann Nordgren, Francesco Vezzi, Valtteri Wirta, Max Käller, Tina Duelund Hjortshøj, Cathrine Jespersgaard, Rayan Houssari, Laura Pignata, Mads Bak, Niels Tommerup, Elisabeth Syk Lundberg, Zeynep Tümer, Anna Lindstrand
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization. PLoS genetics 14 (11) (2018)