Silvia Storoni

Research output

Research output per year 2021 2023 2023

• 6 Article
• 2 Review article
• 1 Phd-Thesis - Research and graduation internal

Research output per year

Research output per year

Search results

• 2023

  Altered collagen I and premature pulmonary embryonic differentiation in patients with OI type II

  Storoni, S., Celli, L., Breur, M., Micha, D., Verdonk, S. J. E., Maugeri, A., van den Aardweg, J. G., Riminucci, M., Eekhoff, E. M. W. & Bugiani, M., 1 Jul 2023, In: Physiological reports. 11, 13, p. e15737 e15737.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• Bronchial obstruction in osteogenesis imperfecta can be detected by forced oscillation technique

  Storoni, S., Verdonk, S. J. E., Micha, D., Jak, P. M. C., Bugiani, M., Eekhoff, E. M. W. & van den Aardweg, J. G., 2023, In: Frontiers in Medicine. 10, 1301873.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients

  Storoni, S., Verdonk, S. J. E., Zhytnik, L., Pals, G., Treurniet, S., Elting, M. W., Sakkers, R. J. B., van den Aardweg, J. G., Eekhoff, E. M. W. & Micha, D., 1 Feb 2023, In: BIOMOLECULES. 13, 2, 281.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  5 Citations (Scopus)

• Medical Care Use Among Patients with Monogenic Osteoporosis Due to Rare Variants in LRP5, PLS3, or WNT1

  Verdonk, S. J. E., Storoni, S., Zhytnik, L., Zhong, W., Pals, G., van Royen, B. J., Elting, M. W., Maugeri, A., Eekhoff, E. M. W. & Micha, D., Aug 2023, In: Calcified tissue international. 113, 2, p. 186-194 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports

  Storoni, S., Celli, L., Zhytnik, L., Maasalu, K., Märtson, A., Kõks, S., Khmyzov, S., Pashenko, A., Maugeri, A., Zambrano, A., Celli, M., Eekhoff, E. M. W. & Micha, D., 1 Nov 2023, In: European journal of medical genetics. 66, 11, 104857.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  2 Citations (Scopus)

• Osteogenesis Imperfecta: New Insights into Extraskeletal Complications

  Storoni, S., 21 Nov 2023, 221 p.

  Research output: PhD Thesis › Phd-Thesis - Research and graduation internal

  Open Access
• 2022

  Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study

  Storoni, S., Treurniet, S., Maugeri, A., Pals, G., van den Aardweg, J. G., van der Pas, S. L., Elting, M. W., Kloen, P., Micha, D. & Eekhoff, E. M. W., 25 Apr 2022, In: Frontiers in Endocrinology. 13, 869604.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  7 Citations (Scopus)
• 2021

  Collagen transport and related pathways in Osteogenesis Imperfecta

  Claeys, L., Storoni, S., Eekhoff, M., Elting, M., Wisse, L., Pals, G., Bravenboer, N., Maugeri, A. & Micha, D., 1 Aug 2021, In: Human genetics. 140, 8, p. 1121-1141 21 p.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  36 Citations (Scopus)

• Pathophysiology of respiratory failure in patients with osteogenesis imperfecta: a systematic review

  Storoni, S., Treurniet, S., Micha, D., Celli, M., Bugiani, M., van den Aardweg, J. G. & Eekhoff, E. M. W., 2021, In: Annals of Medicine. 53, 1, p. 1676-1687 12 p.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  17 Citations (Scopus)