Ola Nilsson

Artiklar i tidskrifter

• Loid, P. , Wang, F. , Lennartsson, O. , Muurinen, M. , Costantini, A. , Vats, S. , Lodefalk, M. , Nilsson, O. & et al. (2025). Short stature, brachydactyly and joint contractures associated with novel FBN2 variants in two families.  Journal of Medical Genetics. [BibTeX]
• Ward, L. M. , Högler, W. , Glorieux, F. H. , Portale, A. A. , Whyte, M. P. , Munns, C. F. , Nilsson, O. , Simmons, J. H. & et al. (2024). Burosumab vs conventional therapy in children with X-linked hypophosphatemia: results of the open-label, phase 3 extension period.  JBMR Plus, 8 (1). [BibTeX]
• Sandvik, U. , Ringvall, E. , Klangemo, K. , Hallgrimsdottir, S. , Gkourogianni, A. , Ottosson, L. , Svoboda, J. & Nilsson, O. (2024). Management and outcomes of foramen magnum stenosis in children with achondroplasia at a single center over 15 years.  Journal of Neurosurgery: Pediatrics, 34 (5), 470-478. [BibTeX]
• M. Boot, A. , Ariceta, G. , Beck-Nielsen, S. S. , Brandi, M. L. , Briot, K. , Collantes, C. d. L. , Giannini, S. , Haffner, D. & et al. (2024). Real-world non-interventional post-authorization safety study of long-term use of burosumab in children and adolescents with X-linked hypophosphatemia: first interim analysis.  Therapeutic advances in chronic disease, 15. [BibTeX]
• Imel, E. A. , Glorieux, F. H. , Whyte, M. P. , Portale, A. A. , Munns, C. F. , Nilsson, O. , Simmons, J. H. , Padidela, R. & et al. (2023). Burosumab Versus Phosphate/Active Vitamin D in Pediatric X-Linked Hypophosphatemia: A Sub-group Analysis by Dose Level.  Journal of Clinical Endocrinology and Metabolism, 108 (11), 2990-2998. [BibTeX]
• Kvist, O. , Dorniok, T. , Sanmartin Berglund, J. , Nilsson, O. , Flodmark, C. & Diaz, S. (2023). DTI assessment of the maturing growth plate of the knee in adolescents and young adults.  European Journal of Radiology, 162. [BibTeX]
• Kvist, O. , Damberg, P. , Dou, Z. , Berglund, J. S. , Flodmark, C. , Nilsson, O. & Diaz, S. (2023). Magnetic resonance and diffusion tensor imaging of the adolescent rabbit growth plate of the knee.  Magnetic Resonance in Medicine, 89 (1), 331-342. [BibTeX]
• Costa, A. , Martins, A. , Machado, C. , Lundberg, E. , Nilsson, O. , Wang, F. , Costantini, A. , Tournis, S. & et al. (2023). PLS3 Mutations in X-Linked Osteoporosis: Clinical and Genetic Features in Five New Families.  Calcified Tissue International, 114, 157-170. [BibTeX]
• Alanay, Y. , Mohnike, K. , Nilsson, O. , Alves, I. , AlSayed, M. , Appelman-Dijkstra, N. M. , Baujat, G. , Ben-Omran, T. & et al. (2023). Real-world evidence in achondroplasia: considerations for a standardized data set.  Orphanet Journal of Rare Diseases, 18 (1). [BibTeX]
• Ariceta, G. , Beck-Nielsen, S. S. , Boot, A. M. , Brandi, M. L. , Briot, K. , de Lucas Collantes, C. , Emma, F. , Giannini, S. & et al. (2023). The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data.  Orphanet Journal of Rare Diseases, 18 (1). [BibTeX]
• Ward, L. M. , Glorieux, F. H. , Whyte, M. P. , Munns, C. F. , Portale, A. A. , Högler, W. , Simmons, J. H. , Gottesman, G. S. & et al. (2022). Effect of Burosumab Compared With Conventional Therapy on Younger vs Older Children With X-linked Hypophosphatemia.  Journal of Clinical Endocrinology and Metabolism, 107 (8), e3241-e3253. [BibTeX]
• Zhao, S. , Zhang, Y. , Hallgrimsdottir, S. , Zuo, Y. , Li, X. , Batkovskyte, D. , Liu, S. , Lindelöf, H. & et al. (2022). Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.  NPJ genomic medicine, 7 (1). [BibTeX]
• Brandi, M. L. , Ariceta, G. , Beck-Nielsen, S. S. , Boot, A. M. , Briot, K. , de Lucas Collantes, C. , Emma, F. , Giannini, S. & et al. (2022). Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-linked hypophosphataemia: rationale and description.  Therapeutic advances in chronic disease, 13. [BibTeX]
• Chau, M. , Dou, Z. , Baroncelli, M. , Landman, E. B. , Bendre, A. , Kanekiyo, M. , Gkourogianni, A. , Barnes, K. & et al. (2022). The synovial microenvironment suppresses chondrocyte hypertrophy and promotes articular chondrocyte differentiation.  NPJ Regenerative medicine, 7 (1). [BibTeX]
• Kvist, O. F. T. , Luiza Dallora, A. , Nilsson, O. , Anderberg, P. , Sanmartin Berglund, J. , Flodmark, C. & Diaz, S. (2021). A Cross-Sectional Magnetic Resonance Imaging Study of Factors Influencing Growth Plate Closure in Adolescents and Young Adults.  Acta Paediatrica, 110 (4), 1249-1256. [BibTeX]
• Sandberg, J. T. , Ols, S. , Löfling, M. , Varnaitė, R. , Lindgren, G. , Nilsson, O. , Rombo, L. , Kalén, M. & et al. (2021). Activation and Kinetics of Circulating T Follicular Helper Cells, Specific Plasmablast Response, and Development of Neutralizing Antibodies following Yellow Fever Virus Vaccination.  Journal of Immunology, 207 (4), 1033-1043. [BibTeX]
• Nilsson, O. (2021). Behandling av akondroplasi är på väg – kan ge nya möjligheter: [New treatments for achondroplasia may be efficacious in other forms of short stature].  Läkartidningen, 118. [BibTeX]
• Lennartsson, O. , Lodefalk, M. , Wehtje, H. , Stattin, E. , Sävendahl, L. & Nilsson, O. (2021). Case Report: Bilateral Epiphysiodesis Due to Extreme Tall Stature in a Girl With a De Novo DNMT3A Variant Associated With Tatton-Brown-Rahman Syndrome.  Frontiers in Endocrinology, 12. [BibTeX]
• Ain, N. U. , Baroncelli, M. , Costantini, A. , Ishaq, T. , Taylan, F. , Nilsson, O. , Mäkitie, O. & Naz, S. (2021). Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1.  Journal of Medical Genetics, 58 (5), 351-356. [BibTeX]
• Dou, Z. , Chau, M. , Muder, D. , Vedung, T. & Nilsson, O. (2021). Optimized protocols for in situ hybridization, immunohistochemistry, and immunofluorescence on skeletal tissue.  Acta Histochemica, 123 (5). [BibTeX]
• Padidela, R. , Whyte, M. P. , Glorieux, F. H. , Munns, C. F. , Ward, L. M. , Nilsson, O. , Portale, A. A. , Simmons, J. H. & et al. (2021). Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia.  Calcified Tissue International, 108, 622-633. [BibTeX]
• Dou, Z. , Muder, D. , Baroncelli, M. , Bendre, A. , Gkourogianni, A. , Ottosson, L. , Vedung, T. & Nilsson, O. (2021). Rat perichondrium transplanted to articular cartilage defects forms articular-like, hyaline cartilage.  Bone, 151. [BibTeX]
• Nilsson, O. (2021). Too little and never enough: The challenge of providing calcium and phosphate to preterm infants.  Acta Paediatrica, 110 (6), 1715-1715. [BibTeX]
• Nilsson, O. (2020). Aggrecanopathies highlight the need for genetic evaluation of ISS children.  European Journal of Endocrinology, 183 (2), C9-C10. [BibTeX]
• Gerver, W. J. M. , Gkourogianni, A. , Dauber, A. , Nilsson, O. & Wit, J. M. (2020). Arm Span and Its Relation to Height in a 2- to 17-Year-Old Reference Population and Heterozygous Carriers of ACAN Variants.  Hormone Research in Paediatrics, 93 (3), 164-172. [BibTeX]
• Ain, N. U. , Muhammad, N. , Dianatpour, M. , Baroncelli, M. , Iqbal, M. , Fard, M. A. F. , Bukhari, I. , Ahmed, S. & et al. (2020). Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature.  Human Mutation, 42 (1), 89-101. [BibTeX]
• Kvist, O. F. T. , Dallora, A. L. , Nilsson, O. , Anderberg, P. , Berglund, J. S. , Flodmark, C. & Diaz, S. (2020). Comparison of reliability of magnetic resonance imaging using cartilage and T1-weighted sequences in the assessment of the closure of the growth plates at the knee.  Acta Radiologica Open, 9 (9). [BibTeX]
• Lennartsson, O. , Nilsson, O. & Lodefalk, M. (2020). Discordance Between Stimulated and Spontaneous Growth Hormone Levels in Short Children Is Dependent on Cut-Off Level and Partly Explained by Refractoriness.  Frontiers in Endocrinology, 11. [BibTeX]
• Gkourogianni, A. , Andrade, A. C. , Jonsson, B. , Segerlund, E. , Werner-Sperker, A. , Horemuzova, E. , Dahlgren, J. , Burstedt, M. & et al. (2020). Pre- and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment.  Acta Paediatrica, 109 (10), 2067-2074. [BibTeX]
• Muder, D. , Nilsson, O. & Vedung, T. (2020). Reconstruction of finger joints using autologous rib perichondrium: an observational study at a single Centre with a median follow-up of 37 years.  BMC Musculoskeletal Disorders, 21 (1). [BibTeX]
• Padidela, R. , Nilsson, O. , Makitie, O. , Beck-Nielsen, S. , Ariceta, G. , Schnabel, D. , Brandi, M. L. , Boot, A. & et al. (2020). The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study.  Orphanet Journal of Rare Diseases, 15 (1). [BibTeX]
• Imel, E. A. , Glorieux, F. H. , Whyte, M. P. , Munns, C. F. , Ward, L. M. , Nilsson, O. , Simmons, J. H. , Padidela, R. & et al. (2019). Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial.  The Lancet, 393 (10189), 2416-2427. [BibTeX]
• Lui, J. C. , Barnes, K. M. , Dong, L. , Yue, S. , Graber, E. , Rapaport, R. , Dauber, A. , Nilsson, O. & et al. (2018). Ezh2 mutations found in the Weaver overgrowth syndrome cause a partial loss of H3K27 histone methyltransferase activity.  Journal of Clinical Endocrinology and Metabolism, 103 (4), 1470-1478. [BibTeX]
• Nilsson, O. (2018). Growth and growth disorders in 2017: Genetic and epigenetic regulation of childhood growth.  Nature Reviews Endocrinology, 14 (2), 71-72. [BibTeX]
• Jee, Y. H. , Wang, J. , Yue, S. , Jennings, M. , Clokie, S. J. H. , Nilsson, O. , Lui, J. & Baron, J. (2018). Mir-374-5p, mir-379-5p, and mir-503-5p regulate proliferation and hypertrophic differentiation of growth plate chondrocytes in male rats.  Endocrinology, 159 (3), 1469-1478. [BibTeX]
• Tatsi, C. , Gkourogianni, A. , Mohnike, K. , DeArment, D. , Witchel, S. , Andrade, A. C. , Markello, T. C. , Baron, J. & et al. (2017). Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation.  Journal of the Endocrine Society, 1 (8), 1006-1011. [BibTeX]
• Gkourogianni, A. , Andrew, M. , Tyzinski, L. , Crocker, M. , Douglas, J. , Dunbar, N. , Fairchild, J. , Funari, M. F. A. & et al. (2017). Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations.  Journal of Clinical Endocrinology and Metabolism, 102 (2), 460-469. [BibTeX]
• Jee, Y. H. , Andrade, A. C. , Baron, J. & Nilsson, O. (2017). Genetics of Short Stature.  Endocrinology and metabolism clinics of North America (Print), 46 (2), 259-281. [BibTeX]
• Lodefalk, M. & Nilsson, O. (2017). To Prime or Not to Prime - Is That Still a Question?: A Comment on the US Guidelines on Growth Hormone and Insulin-Like Growth Factor-I Treatment in Children and Adolescents.  Hormone Research in Paediatrics, 88 (2), 179-180. [BibTeX]
• Lui, J. C. , Garrison, P. , Nguyen, Q. , Ad, M. , Keembiyehetty, C. , Chen, W. , Jee, Y. H. , Landman, E. & et al. (2016). EZH1 and EZH2 promote skeletal growth by repressing inhibitors of chondrocyte proliferation and hypertrophy.  Nature Communications, 7. [BibTeX]

Artiklar, forskningsöversikter

• Mughal, M. Z. , Baroncelli, G. I. , de Lucas-Collantes, C. , Linglart, A. , Magnolato, A. , Raimann, A. , Santos, F. , Schnabel, D. & et al. (2022). Burosumab for X-linked hypophosphatemia in children and adolescents: Opinion based on early experience in seven European countries.  Frontiers in Endocrinology, 13. [BibTeX]
• Beck-Nielsen, S. S. , Mughal, Z. , Haffner, D. , Nilsson, O. , Levtchenko, E. , Ariceta, G. , de Lucas Collantes, C. , Schnabel, D. & et al. (2019). FGF23 and its role in X-linked hypophosphatemia-related morbidity.  Orphanet Journal of Rare Diseases, 14 (1). [BibTeX]
• Jee, Y. H. , Baron, J. & Nilsson, O. (2018). New developments in the genetic diagnosis of short stature.  Current opinion in pediatrics, 30 (4), 541-547. [BibTeX]
• Andrade, A. C. , Jee, Y. H. & Nilsson, O. (2017). New Genetic Diagnoses of Short Stature Provide Insights into Local Regulation of Childhood Growth.  Hormone Research in Paediatrics, 88 (1), 22-37. [BibTeX]

Konferensbidrag

• Lodefalk, M. , Lennartsson, O. , Rodanaki, M. , Cao, Y. , Lodefalk, M. & Nilsson, O. (2024). Long-Term Health Outcomes of Delayed Puberty in Males: A Comprehensive Population-Based Study. I:  Hormone Research in Paediatrics. Konferensbidrag vid 62nd Annual Meeting of the European Society for Paediatric Endocrinology (ESPE 2024), Liverpool, UK, November 16-18, 2024. (ss. 97-97). S. Karger. [BibTeX]
• Bendre, A. , Ottosson, L. , Baroncelli, M. , Dou, Z. & Nilsson, O. (2023). Growth failure in aggrecan haploinsufficiency is due to a decrease in growth plate matrix volume and hypertrophic cell size. I:  Hormone Research in Paediatrics. Konferensbidrag vid 61st Annual Meeting of the European Society for Paediatric Endocrinology (ESPE 2023), The Hague, Netherlands, September 21-23, 2023. (ss. 40-41). S. Karger. [BibTeX]
• Lennartsson, O. , Nilsson, O. & Lodefalk, M. (2023). Sex steroid priming decreases the frequency of divergent results between spontaneous and stimulated GH tests. I:  ESPE Abstracts. Konferensbidrag vid 61st Annual ESPE (ESPE 2023),The Hague, Netherlands, 21-23 Sep., 2023. Bioscentifica. [BibTeX]
• Lennartsson, O. , Nilsson, O. & Lodefalk, M. (2023). Sex steroid priming decreases the frequency of divergent results between spontaneous and stimulated GH tests. I:  Hormone Research in Paediatrics. Konferensbidrag vid 61st Annual Meeting of the European Society for Paediatric Endocrinology (ESPE 2023), The Hague, Netherlands, September 21-23, 2023. (ss. 287-287). S. Karger. [BibTeX]
• Padidela, R. , Whyte, M. P. , Glorieux, F. H. , Munns, C. F. , Ward, L. M. , Nilsson, O. , Portale, A. A. , Simmons, J. H. & et al. (2022). Patient-reported outcomes from a randomized open-label phase 3 trial comparing burosumab versus conventional therapy in children with X-linked hypophosphatemia: results from the 24-week treatment extension period. I:  Hormone Research in Paediatrics. Konferensbidrag vid 60th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Rome, Italy, September 15-17, 2022. (ss. 29-30). S. Karger. [BibTeX]
• Bendre, A. , Ottosson, L. , Baroncelli, M. , Dou, Z. & Nilsson, O. (2022). Postnatal growth failure of aggrecan deficient mice is due to impaired growth plate chondrogenesis. I:  Hormone Research in Paediatrics. Konferensbidrag vid 60th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), Rome, Italy, September 15-17, 2022. (ss. 294-294). S. Karger. [BibTeX]
• Baroncelli, M. , Raimann, A. , Padidela, R. & Nilsson, O. (2021). Bone, Growth Plate and Mineral Metabolism. I:  Hormone Research in Paediatrics. Konferensbidrag vid 59th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE 2021 Online), September 22-26, 2021. (ss. 22-22). S. Karger. [BibTeX]
• Padidela, R. , Cheung, M. , Allgrove, J. , Bacchetta, J. , Semler, O. , Heubner, A. , Schnabel, D. , Emma, F. & et al. (2021). BUR-CL207: An Open-label, Multicenter, Non-randomized Study to Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of Burosumab in Pediatric Patients from Birth to Less than 1 Year of Age with XLH. I:  Hormone Research in Paediatrics. Konferensbidrag vid 59th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE 2021 Online), September 22-26, 2021. (ss. 226-226). S. Karger. [BibTeX]
• Hallgrimsdottir, S. & Nilsson, O. (2021). Premature epiphyseal fusion induced by a retinoic acid agonist in a young girl with fibrodysplasia ossificans progressiva. I:  Hormone Research in Paediatrics. Konferensbidrag vid 59th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE 2021 Online), September 22-26, 2021. (ss. 95-95). S. Karger. [BibTeX]
• Hallgrimsdottir, S. & Nilsson, O. (2021). Premature epiphyseal fusion induced by Palovarotene in a young girl with fibrodysplasia ossificans progressiva. I:  Hormone Research in Paediatrics. S. Karger. [BibTeX]
• Högler, W. , Imel, A. , Whyte, P. , Munns, C. , Anthony, P. , Ward, L. , Simmons, H. , Padidela, R. & et al. (2019). BUROSUMAB RESULTED IN GREATER IMPROVEMENT IN PHOSPHATE METABOLISM, RICKETS, GROWTH, AND MOBILITY THAN CONTINUATION WITH CONVENTIONAL THERAPY IN CHILDREN WITH X-LINKED HYPOPHOSPHATEMIA (XLH). I:  Osteoporosis International. Konferensbidrag vid World Congress on Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (WCO-IOF-ESCEO), Paris, France, April 4-7, 2019. (ss. S409-S410). Springer. [BibTeX]
• Nilsson, O. , Whyte, M. P. , Imel, E. A. , Munns, C. , Portale, A. A. , Ward, L. , Simmons, J. H. , Padidela, R. & et al. (2018). Burosumab Improved Rickets, Phosphate Metabolism, and Clinical Outcomes Compared to Conventional Therapy in Children with X-Linked Hypophosphatemia (XLH) - A Randomized Controlled Phase 3 Study. I:  Hormone Research in Paediatrics. Konferensbidrag vid 57th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE 2018), Athens, Greece, September 27-29, 2018. (ss. 57-58). S. Karger. [BibTeX]
• Gkourogianni, A. , Segerlund, E. , Hallgrimsdottir, S. , Nilsson, O. & Stattin, E. (2018). Clinical and Radiological Manifestations in a Large Swedish Family with a Pathogenic Heterozygous ACAN Variant. I:  Hormone Research in Paediatrics. Konferensbidrag vid 57th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE 2018), Athens, Greece, September 27-29, 2018. (ss. 424-424). S. Karger. [BibTeX]
• Nilsson, O. (2018). It Is Not Just the Growth Hormone-IGF-I Axis. I:  Hormone Research in Paediatrics. Konferensbidrag vid 57th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE 2018), Athens, Greece, September 27-29, 2018. (ss. 12-13). S. Karger. [BibTeX]
• Nilsson, O. (2018). PRO - To Prime Or Not to Prime?. I:  Hormone Research in Paediatrics. Konferensbidrag vid 57th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE 2018), Athens, Greece, September 27-29, 2018. (ss. 18-19). S. Karger. [BibTeX]
• Andrade, A. C. , Gkourogianni, A. , Segerlund, E. , Werner-Sperker, A. , Horemuzova, E. , Dahlgren, J. & Nilsson, O. (2017). Short Stature Due To Two Novel Heterozygous Igf1r Mutations and Response To Gh Treatment. I:  Hormone Research in Paediatrics. S. Karger. [BibTeX]