WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta
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
Published in The New England journal of medicine (09.05.2013)
Published in The New England journal of medicine (09.05.2013)
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Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways
Pettersson, Maria, Viljakainen, Heli, Loid, Petra, Mustila, Taina, Pekkinen, Minna, Armenio, Miriam, Andersson-Assarsson, Johanna C, Mäkitie, Outi, Lindstrand, Anna
Published in The journal of clinical endocrinology and metabolism (01.08.2017)
Published in The journal of clinical endocrinology and metabolism (01.08.2017)
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PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants
Kämpe, A. J., Costantini, A., Mäkitie, R. E., Jäntti, N., Valta, H., Mäyränpää, M., Kröger, H., Pekkinen, M., Taylan, F., Jiao, H., Mäkitie, O.
Published in Osteoporosis international (01.10.2017)
Published in Osteoporosis international (01.10.2017)
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A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report
Mäkitie, R. E., Pekkinen, M., Morisada, N., Kobayashi, D., Yonezawa, Y., Nishimura, G., Ikegawa, S., Mäkitie, O.
Published in Calcified tissue international (01.12.2021)
Published in Calcified tissue international (01.12.2021)
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Journal Article
Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland
Viljakainen, Heli, Andersson-Assarsson, Johanna C, Armenio, Miriam, Pekkinen, Minna, Pettersson, Maria, Valta, Helena, Lipsanen-Nyman, Marita, Mäkitie, Outi, Lindstrand, Anna
Published in PloS one (01.07.2015)
Published in PloS one (01.07.2015)
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Journal Article
Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults
Mäkitie, Riikka E, Haanpää, Maria, Valta, Helena, Pekkinen, Minna, Laine, Christine M, Lehesjoki, Anna‐Elina, Schalin‐Jäntti, Camilla, Mäkitie, Outi
Published in Journal of bone and mineral research (01.09.2016)
Published in Journal of bone and mineral research (01.09.2016)
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Journal Article
A Novel Splice Mutation in PLS3 Causes X‐linked Early Onset Low‐Turnover Osteoporosis
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
Published in Journal of bone and mineral research (01.03.2015)
Published in Journal of bone and mineral research (01.03.2015)
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Journal Article
FGF23 gene variation and its association with phosphate homeostasis and bone mineral density in Finnish children and adolescents
Pekkinen, Minna, Laine, Christine M, Mäkitie, Riikka, Leinonen, Eira, Lamberg-Allardt, Christel, Viljakainen, Heli, Mäkitie, Outi
Published in Bone (New York, N.Y.) (01.02.2015)
Published in Bone (New York, N.Y.) (01.02.2015)
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Journal Article
Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)
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
Published in European journal of human genetics : EJHG (01.08.2011)
Published in European journal of human genetics : EJHG (01.08.2011)
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Journal Article
Body composition and adipokines in patients with juvenile idiopathic arthritis and systemic glucocorticoids
Markula-Patjas, K, Valta, H, Pekkinen, M, Andersson, S, Aalto, K, Lahdenne, P, Viljakainen, H, Mäkitie, O
Published in Clinical and experimental rheumatology (01.11.2015)
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Published in Clinical and experimental rheumatology (01.11.2015)
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Linkage map of birch, Betula pendula Roth, based on microsatellites and amplified fragment length polymorphisms
Pekkinen, M, Varvio, S, Kulju, K K.M, Kärkkäinen, H, Smolander, S, Viherä-Aarnio, A, Koski, V, Sillanpää, M J
Published in Genome (01.08.2005)
Published in Genome (01.08.2005)
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Genetic Variation of the Vitamin D Binding Protein Affects Vitamin D Status and Response to Supplementation in Infants
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
Published in The journal of clinical endocrinology and metabolism (01.11.2019)
Published in The journal of clinical endocrinology and metabolism (01.11.2019)
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Journal Article
Phosphate Concentrations and Modifying Factors in Healthy Children From 12 to 24 Months of Age
Koljonen, Laura, Enlund-Cerullo, Maria, Hauta-Alus, Helena, Holmlund-Suila, Elisa, Valkama, Saara, Rosendahl, Jenni, Andersson, Sture, Pekkinen, Minna, Mäkitie, Outi
Published in The journal of clinical endocrinology and metabolism (01.10.2021)
Published in The journal of clinical endocrinology and metabolism (01.10.2021)
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Journal Article
Vitamin D is a major determinant of bone mineral density at school age
Pekkinen, Minna, Viljakainen, Heli, Saarnio, Elisa, Lamberg-Allardt, Christel, Mäkitie, Outi
Published in PloS one (02.07.2012)
Published in PloS one (02.07.2012)
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Journal Article
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
Kämpe, Anders, Enlund-Cerullo, Maria, Valkama, Saara, Holmlund-Suila, Elisa, Rosendahl, Jenni, Hauta-Alus, Helena, Pekkinen, Minna, Andersson, Sture, Mäkitie, Outi
Published in PLoS genetics (01.12.2019)
Published in PLoS genetics (01.12.2019)
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Journal Article
A new family with epiphyseal chondrodysplasia type Miura
Kenis, Vladimir, Melchenko, Eugeniy, Mazunin, Ilya, Pekkinen, Minna, Mäkitie, Outi
Published in American journal of medical genetics. Part A (01.01.2021)
Published in American journal of medical genetics. Part A (01.01.2021)
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Journal Article
Decreased telomere length in children with cartilage-hair hypoplasia
Kostjukovits, Svetlana, Degerman, Sofie, Pekkinen, Minna, Klemetti, Paula, Landfors, Mattias, Roos, Göran, Taskinen, Mervi, Mäkitie, Outi
Published in Journal of medical genetics (01.05.2017)
Published in Journal of medical genetics (01.05.2017)
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Journal Article
Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia
Reilly, Madeline Louise, Ain, Noor ul, Muurinen, Mari, Tata, Alice, Huber, Céline, Simon, Marleen, Ishaq, Tayyaba, Shaw, Nick, Rusanen, Salla, Pekkinen, Minna, Högler, Wolfgang, Knapen, Maarten F. C. M., Born, Myrthe, Saunier, Sophie, Naz, Sadaf, Cormier‐Daire, Valérie, Benmerah, Alexandre, Makitie, Outi
Published in Journal of bone and mineral research (01.09.2022)
Published in Journal of bone and mineral research (01.09.2022)
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