Afgerond onderzoek 1 januari 2020

Afgeronde onderzoeken (lijst)

Lijst met afgeronde onderzoeken rond OI

  1. A roadmap to surgery in osteogenesis imperfecta: results of an international collaboration of patient organizations and interdisciplinary care teams. Sakkers RJ, Montpetit K, Tsimicalis A, Wirth T, Verhoef M, Hamdy R. et al: Acta Orthop. 2021 Oct; 92(5):608-614.
  2. A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta. Nijhuis W, Franken A, Ayers K, Damas C, Folkestad L, Forlino A. et alOrphanet J Rare Dis. 2021 Mar 20;16(1):140.
  3. A Baseline Measurement of Quality of Life in 322 Adults With Osteogenesis Imperfecta.
    Gooijer K, Harsevoort AGJ, van Dijk FS, Withaar HR, Janus GJM, Franken AAM. JBMR Plus. 2020 Nov 7;4(12):e10416.
  4. Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.
    van Dijk FS, Semler O, Etich J, Köhler A, Jimenez-Estrada JA, Bravenboer N, et al. Am J Hum Genet. 2020 Nov 5;107(5):989-999.
  5. Fatigue in adults with Osteogenesis Imperfecta.
    Harsevoort AGJ, Gooijer K, van Dijk FS, van der Grijn DAFM, Franken AAM, Dommisse AMV, Janus GJM. BMC Musculoskelet Disord. 2020 Jan 3;21(1):6.
  6. Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2  van Dijk FS, Semler O,  Etich J,  Köhler A,   Jimenez-Estrada JA,  Bravenboer N .et al.  Am J Hum Genet . 2020 Nov 5;107(5):989-999.
  7. Incidence and treatment of femur fractures in adults with osteogenesis imperfecta: an analysis of an expert clinic of 216 patients.  Goudriaan WA,  Harsevoort GJ, van Leeuwen M,  Franken AA, and  Janus GJM. Eur J Trauma Emerg Surg 2020 Feb;46(1):165-171.  
  8. Bleeding and bruising in Osteogenesis Imperfecta: International Society on Thrombosis and Haemostasis bleeding assessment tool and haemostasis laboratory assessment in 22 individuals
    Gooijer K, Rondeel JMM, van Dijk FS, Harsevoort AGJ, Janus GJM, Franken AAM. Br J Haematol. 2019 Nov;187(4):509-517. doi: 10.1111/bjh.16097. Epub 2019 Jul 14.PMID: 31304589
  9. Adults with osteogenesis imperfecta: Clinical characteristics of 151 patients with a focus on bisphosphonate use and bone density measurements.
    Scheres LJJ, van Dijk FS, Harsevoort AJ, van Dijk ATH, Dommisse AM, Janus GJM, Franken AAM.Bone Rep. 2018 Apr 25;8:168-172.
  10. Supracondylar femur fracture repair using IlluminOss in a patient with Osteogenesis Imperfecta type 4. Meijering D, Harsevoort GJ, Janus AJM, van Helden SH. J Orthop. 2018 May 8;15(2):663-665.
  11. 10-m Shuttle Ride Test in Youth With Osteogenesis Imperfecta Who Use Wheelchairs: Feasibility, Reproducibility, and Physiological Responses.
    Bongers BC, Rijks EB, Harsevoort AG, Takken T, van Brussel M. Phys Ther. 2016 May;96(5):679-86.
  12. Complete Remodeling After Conservative Treatment of a Severely Angulated Odontoid Fracture in a Patient With Osteogenesis Imperfecta: A Case Report. Colo D, Schlösser TP, Oostenbroek HJ, Castelein RM. Spine (Phila Pa 1976). 2015 Sep 15;40
  13. [A male with limited movement in the forearm]. Scheres LJ, Janus GJ, Franken AA.Ned Tijdschr Geneeskd. 2014;158:A7657.PMID: 24988169
  14. The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V. Lazarus S, McInerney-Leo AM, McKenzie FA, Baynam G, Broley S, Cavan BV et al. BMC Musculoskelet Disord. 2014 Mar 27;15:107.
  15. PLS3 mutations in X-linked osteoporosis with fractures.
    van Dijk FS, Zillikens MC, Micha D, Riessland M, Marcelis CL, de Die-Smulders CE et al. N Engl J Med. 2013 Oct 17;369(16):1529-36.
  16. Bone mineral density in developing children with osteogenesis imperfecta: a longitudinal study with 9 years of follow-up. Kok DH, Sakkers RJ, Pruijs HE, Joosse P, Castelein RM. Acta Orthop. 2013 Aug;84(4):431-6.
  17. Decrease in outpatient department visits and operative interventions due to bisphosphonates in children with osteogenesis imperfecta. De Graaff F, Verra W, Pruijs JE, Sakkers RJ. J Child Orthop. 2011 Apr;5(2):121-5.
  18. Prevalence of vertebral pars defects (spondylolysis) in a population with osteogenesis imperfecta. Verra WC, Pruijs HJ, Beek EJ, Castelein RM. Spine (Phila Pa 1976). 2009 Jun 1;34(13):1399-401.
  19. Physical training in children with osteogenesis imperfecta. Van Brussel M, Takken T, Uiterwaal CS, Pruijs HJ, Van der Net J, Helders PJ, Engelbert RH. J Pediatr. 2008 Jan;152(1):111-6
  1. Quality of life in children with osteogenesis imperfecta treated with oral bisphosphonates (Olpadronate): a 2-year randomized placebo-controlled trial. Kok DH, Sakkers RJ, Janse AJ, Pruijs HE, Verbout AJ, Castelein RM, Engelbert RH. Eur J Pediatr. 2007 Nov;166(11):1155-61.
  2. Cardiopulmonary fitness and muscle strength in patients with osteogenesis imperfecta type I. Takken T, Terlingen HC, Helders PJ, Pruijs H, Van der Ent CK, Engelbert RH. J Pediatr. 2004 Dec;145(6):813-8.
  3. Osteogenesis imperfecta in childhood: impairment and disability. A prospective study with 4-year follow-up. Engelbert RH, Uiterwaal CS, Gerver WJ, van der Net JJ, Pruijs HE, Helders PJ. Arch Phys Med Rehabil. 2004 May;85(5):772-8.
  4. Skeletal effects and functional outcome with olpadronate in children with osteogenesis imperfecta: a 2-year randomised placebo-controlled study. Sakkers R, Kok D, Engelbert R, van Dongen A, Jansen M, Pruijs H, Verbout A, Schweitzer D, Uiterwaal C. Lancet. 2004 May 1;363(9419):1427-31.
  5. Osteogenesis imperfecta in childhood: effects of spondylodesis on functional ability, ambulation and perceived competence. Tolboom N, Cats EA, Helders PJ, Pruijs JE, Engelbert RH. Eur Spine J. 2004 Mar;13(2):108-13.
  6. The interaction between Sillence type and BMD in osteogenesis imperfecta. Kok DJ, Uiterwaal CS, Van Dongen AJ, Kramer PP, Pruijs HE, Engelbert RH, Verbout AJ, Schweitzer DH, Sakkers RJ. Calcif Tissue Int. 2003 Nov;73(5):441-5.
  7. Osteogenesis imperfecta in childhood: MR imaging of basilar impression. Janus GJ, Engelbert RH, Beek E, Gooskens RH, Pruijs JE. Eur J Radiol. 2003 Jul;47(1):19-24.
  8. Scoliosis in children with osteogenesis imperfecta: influence of severity of disease and age of reaching motor milestones. Engelbert RH, Uiterwaal CS, van der Hulst A, Witjes B, Helders PJ, Pruijs HE. Eur Spine J. 2003 Apr;12(2):130-4.
  9. Operative treatment of severe scoliosis in osteogenesis imperfecta: results of 20 patients after halo traction and posterior spondylodesis with instrumentation. Janus GJ, Finidori G, Engelbert RH, Pouliquen M, Pruijs JE. Eur Spine J. 2000 Dec;9(6):486-91.
  10. Osteogenesis imperfecta in childhood: prognosis for walking. Engelbert RH, Uiterwaal CS, Gulmans VA, Pruijs H, Helders PJ. J Pediatr. 2000 Sep;137(3):397-402.
  11. Osteogenesis imperfecta: profiles of motor development as assessed by a postal questionnaire.Engelbert RH, Uiterwaal CS, Gulmans VA, Pruijs HE, Helders PJ. Eur J Pediatr. 2000 Aug;159(8):615-20.
  12. Pyridinium cross-links in bone of patients with osteogenesis imperfecta: evidence of a normal intrafibrillar collagen packing. Bank RA, Tekoppele JM, Janus GJ, Wassen MH, Pruijs HE, Van der Sluijs HA, Sakkers RJ. J Bone Miner Res. 2000 Jul;15(7):1330-6.
  13. Complications of the Bailey-Dubow elongating nail in osteogenesis imperfecta: 34 children with 110 nails. Janus GJ, Vanpaemel LA, Engelbert RH, Pruijs HE. J Pediatr Orthop B. 1999 Jul;8(3):203-7.
  14. Spinal complications in osteogenesis imperfecta: 47 patients 1-16 years of age. Engelbert RH, Gerver WJ, Breslau-Siderius LJ, van der Graaf Y, Pruijs HE, van Doorne JM, Beemer FA, Helders PJ. Acta Orthop Scand. 1998 Jun;69(3):283-6.
  15. Intramedullary rodding in type III osteogenesis imperfecta. Effects on neuromotor development in 10 children. Engelbert RH, Helders PJ, Keessen W, Pruijs HE, Gooskens RH. Acta Orthop Scand. 1995 Aug;66(4):361-4


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