WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta von Laine, Christine M, Joeng, Kyu Sang, Campeau, Philippe M, Kiviranta, Riku, Tarkkonen, Kati, Grover, Monica, Lu, James T, Pekkinen, Minna, Wessman, Maija, Heino, Terhi J, Nieminen-Pihala, Vappu, Aronen, Mira, Laine, Tero, Kröger, Heikki, Cole, William G, Lehesjoki, Anna-Elina, Nevarez, Lisette, Krakow, Deborah, Curry, Cynthia J.R, Cohn, Daniel H, Gibbs, Richard A, Lee, Brendan H, Mäkitie, Outi

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Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland von Viljakainen, Heli, Andersson-Assarsson, Johanna C, Armenio, Miriam, Pekkinen, Minna, Pettersson, Maria, Valta, Helena, Lipsanen-Nyman, Marita, Mäkitie, Outi, Lindstrand, Anna

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Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways von Pettersson, Maria, Viljakainen, Heli, Loid, Petra, Mustila, Taina, Pekkinen, Minna, Armenio, Miriam, Andersson-Assarsson, Johanna C, Mäkitie, Outi, Lindstrand, Anna

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Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults von Mäkitie, Riikka E, Haanpää, Maria, Valta, Helena, Pekkinen, Minna, Laine, Christine M, Lehesjoki, Anna‐Elina, Schalin‐Jäntti, Camilla, Mäkitie, Outi

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A Novel Splice Mutation in PLS3 Causes X‐linked Early Onset Low‐Turnover Osteoporosis von Laine, Christine M, Wessman, Maija, Toiviainen‐Salo, Sanna, Kaunisto, Mari A, Mäyränpää, Mervi K, Laine, Tero, Pekkinen, Minna, Kröger, Heikki, Välimäki, Ville‐Valtteri, Välimäki, Matti J, Lehesjoki, Anna‐Elina, Mäkitie, Outi

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PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants von Kämpe, A. J., Costantini, A., Mäkitie, R. E., Jäntti, N., Valta, H., Mäyränpää, M., Kröger, H., Pekkinen, M., Taylan, F., Jiao, H., Mäkitie, O.

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Genetic variation in WNT16 and its association with bone mineral density, fractures and osteoporosis in children with bone fragility von Mäkitie, R.E., Mäkitie, S., Mäyränpää, M.K., Pekkinen, M.

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A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report von Mäkitie, R. E., Pekkinen, M., Morisada, N., Kobayashi, D., Yonezawa, Y., Nishimura, G., Ikegawa, S., Mäkitie, O.

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FGF23 gene variation and its association with phosphate homeostasis and bone mineral density in Finnish children and adolescents von Pekkinen, Minna, Laine, Christine M, Mäkitie, Riikka, Leinonen, Eira, Lamberg-Allardt, Christel, Viljakainen, Heli, Mäkitie, Outi

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Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2 von Pekkinen, Minna, Terhal, Paulien A, Botto, Lorenzo D, Henning, Petra, Mäkitie, Riikka E, Roschger, Paul, Jain, Amrita, Kol, Matthijs, Kjellberg, Matti A, Paschalis, Eleftherios P, van Gassen, Koen, Murray, Mary, Bayrak-Toydemir, Pinar, Magnusson, Maria K, Jans, Judith, Kausar, Mehran, Carey, John C, Somerharju, Pentti, Lerner, Ulf H, Olkkonen, Vesa M, Klaushofer, Klaus, Holthuis, Joost Cm, Mäkitie, Outi

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Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG) von LAINE, C. M, CHUNG, B. D, COLE, W. G, NETZER, C, MÄKITIE, O, SUSIC, M, PRESCOTT, T, SEMLER, O, FISKERSTRAND, T, D'EUFEMIA, P, CASTORI, M, PEKKINEN, M, SOCHETT, E

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Body composition and adipokines in patients with juvenile idiopathic arthritis and systemic glucocorticoids von Markula-Patjas, K, Valta, H, Pekkinen, M, Andersson, S, Aalto, K, Lahdenne, P, Viljakainen, H, Mäkitie, O

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Vitamin D is a major determinant of bone mineral density at school age von Pekkinen, Minna, Viljakainen, Heli, Saarnio, Elisa, Lamberg-Allardt, Christel, Mäkitie, Outi

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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 von Kämpe, Anders, Enlund-Cerullo, Maria, Valkama, Saara, Holmlund-Suila, Elisa, Rosendahl, Jenni, Hauta-Alus, Helena, Pekkinen, Minna, Andersson, Sture, Mäkitie, Outi

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A de novo PRPF8 Pathogenic Variant in Transient Severe Hypophosphatemia with Delayed Puberty and Growth Failure von Koljonen, L, Salonen, P, Rusanen, S, Mäyränpää, MK, Pekkinen, M, Mäkitie, O

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Genetic Variation of the Vitamin D Binding Protein Affects Vitamin D Status and Response to Supplementation in Infants von Enlund-Cerullo, Maria, Koljonen, Laura, Holmlund-Suila, Elisa, Hauta-alus, Helena, Rosendahl, Jenni, Valkama, Saara, Helve, Otto, Hytinantti, Timo, Viljakainen, Heli, Andersson, Sture, Mäkitie, Outi, Pekkinen, Minna

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Phosphate Concentrations and Modifying Factors in Healthy Children From 12 to 24 Months of Age von Koljonen, Laura, Enlund-Cerullo, Maria, Hauta-Alus, Helena, Holmlund-Suila, Elisa, Valkama, Saara, Rosendahl, Jenni, Andersson, Sture, Pekkinen, Minna, Makitie, Outi

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A novel MYT1L mutation in a patient with severe early‐onset obesity and intellectual disability von Loid, Petra, Mäkitie, Riikka, Costantini, Alice, Viljakainen, Heli, Pekkinen, Minna, Mäkitie, Outi

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Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum von Taylan, Fulya, Costantini, Alice, Coles, Nicole, Pekkinen, Minna, Héon, Elise, Şıklar, Zeynep, Berberoğlu, Merih, Kämpe, Anders, Kıykım, Ertuğrul, Grigelioniene, Giedre, Tüysüz, Beyhan, Mäkitie, Outi

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Low free 25-hydroxyvitamin D and high vitamin D binding protein and parathyroid hormone in obese Caucasians. A complex association with bone? von Saarnio, Elisa, Pekkinen, Minna, Itkonen, Suvi T, Kemi, Virpi, Karp, Heini, Ivaska, Kaisa K, Risteli, Juha, Koivula, Marja-Kaisa, Kärkkäinen, Merja, Mäkitie, Outi, Sievänen, Harri, Lamberg-Allardt, Christel

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