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Ola Nilsson

Tjänstetitel: Professor Organisation: Institutionen för medicinska vetenskaper

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Ola Nilsson

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Om Ola Nilsson

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Publikationer

Publikationer

Artiklar i tidskrifter |  Artiklar, forskningsöversikter | 

Artiklar i tidskrifter

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, 1-9.
Ain, N. U. , Baroncelli, M. , Costantini, A. , Ishaq, T. , Taylan, F. , Nilsson, O. , Mäkitie, O. & Naz, S. (2020). Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1. Journal of Medical Genetics.
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.
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).
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). Osteoporosis International, 30 (Suppl. 2), S409-S410.
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.
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).
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. Hormone Research in Paediatrics, 90 (Suppl.1), 57-58.
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. Hormone Research in Paediatrics, 90 (Suppl.1), 424-424.
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.
Nilsson, O. (2018). It Is Not Just the Growth Hormone-IGF-I Axis. Hormone Research in Paediatrics, 90 (Suppl.1), 12-13.
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.
Nilsson, O. (2018). PRO - To Prime Or Not to Prime?. Hormone Research in Paediatrics, 90 (Suppl.1), 18-19.
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.
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.
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.
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. Hormone Research in Paediatrics, 88 (Suppl. 1), 130-131.
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.

Artiklar, forskningsöversikter

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.
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.