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Page 1
Collagen transport and related pathways in Osteogenesis Imperfecta.
Hum Genet. 2021 Aug;140(8):1121-1141. doi: 10.1007/s00439-021-02302-2. Epub 2021 Jun 24.
Hum Genet. 2021.
PMID: 34169326
Free PMC article.
Review.
Is Osteogenesis Imperfecta Associated with Cardiovascular Abnormalities? A Systematic Review of the Literature.
Verdonk SJE, Storoni S, Micha D, van den Aardweg JG, Versacci P, Celli L, de Vries R, Zhytnik L, Kamp O, Bugiani M, Eekhoff EMW.
Verdonk SJE, et al. Among authors: storoni s.
Calcif Tissue Int. 2024 Mar;114(3):210-221. doi: 10.1007/s00223-023-01171-3. Epub 2024 Jan 19.
Calcif Tissue Int. 2024.
PMID: 38243143
Free PMC article.
Review.
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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 JG, van der Pas SL, Elting MW, Kloen P, Micha D, Eekhoff EMW.
Storoni S, et al.
Front Endocrinol (Lausanne). 2022 Apr 25;13:869604. doi: 10.3389/fendo.2022.869604. eCollection 2022.
Front Endocrinol (Lausanne). 2022.
PMID: 35546999
Free PMC article.
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Bronchial obstruction in osteogenesis imperfecta can be detected by forced oscillation technique.
Storoni S, Verdonk SJE, Micha D, Jak PMC, Bugiani M, Eekhoff EMW, van den Aardweg JG.
Storoni S, et al.
Front Med (Lausanne). 2023 Dec 21;10:1301873. doi: 10.3389/fmed.2023.1301873. eCollection 2023.
Front Med (Lausanne). 2023.
PMID: 38179272
Free PMC article.
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From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients.
Storoni S, Verdonk SJE, Zhytnik L, Pals G, Treurniet S, Elting MW, Sakkers RJB, van den Aardweg JG, Eekhoff EMW, Micha D.
Storoni S, et al.
Biomolecules. 2023 Feb 2;13(2):281. doi: 10.3390/biom13020281.
Biomolecules. 2023.
PMID: 36830650
Free PMC article.
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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 EMW, Micha D.
Storoni S, et al.
Eur J Med Genet. 2023 Nov;66(11):104857. doi: 10.1016/j.ejmg.2023.104857. Epub 2023 Sep 26.
Eur J Med Genet. 2023.
PMID: 37758164
Free article.
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