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302 results

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Safety and efficacy of burosumab in improving phosphate metabolism, bone health, and quality of life in adolescents with X-linked hypophosphatemic rickets.
Baroncelli GI, Grandone A, Aversa A, Sessa MR, Pelosini C, Michelucci A, Toschi B, Manca M, Isola A, Comberiati P. Baroncelli GI, et al. Among authors: michelucci a. Eur J Med Genet. 2024 Aug;70:104958. doi: 10.1016/j.ejmg.2024.104958. Epub 2024 Jun 29. Eur J Med Genet. 2024. PMID: 38950880 Free article.
Intact FGF23 concentration in healthy infants, children, and adolescents, and diagnostic usefulness in patients with X-linked hypophosphatemic rickets.
Baroncelli GI, Sessa MR, Pelosini C, Bertelloni S, Michelucci A, Toschi B, Piaggi P, Peroni D, Comberiati P. Baroncelli GI, et al. Among authors: michelucci a. J Endocrinol Invest. 2024 Apr;47(4):873-882. doi: 10.1007/s40618-023-02202-4. Epub 2023 Nov 22. J Endocrinol Invest. 2024. PMID: 37991698 Free PMC article.
Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia.
Lai M, Pifferi M, Bush A, Piras M, Michelucci A, Di Cicco M, del Grosso A, Quaranta P, Cursi C, Tantillo E, Franceschi S, Mazzanti MC, Simi P, Saggese G, Boner A, Pistello M. Lai M, et al. Among authors: michelucci a. J Med Genet. 2016 Apr;53(4):242-9. doi: 10.1136/jmedgenet-2015-103539. Epub 2016 Jan 4. J Med Genet. 2016. PMID: 26729821
Maternally derived 15q11.2-q13.1 duplication in a child with Lennox-Gastaut-type epilepsy and dysmorphic features: Clinical-genetic characterization of the family and review of the literature.
Bonuccelli A, Valetto A, Orsini A, Michelucci A, Ferrari AR, Elia M, Bertini V. Bonuccelli A, et al. Among authors: michelucci a. Am J Med Genet A. 2017 Feb;173(2):556-560. doi: 10.1002/ajmg.a.38039. Epub 2016 Nov 14. Am J Med Genet A. 2017. PMID: 27862928 No abstract available.
Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the WNT1 gene.
Campopiano MC, Fogli A, Michelucci A, Mazoni L, Longo A, Borsari S, Pardi E, Benelli E, Sardella C, Pierotti L, Dinoi E, Marcocci C, Cetani F. Campopiano MC, et al. Among authors: michelucci a. Front Endocrinol (Lausanne). 2022 Aug 8;13:918682. doi: 10.3389/fendo.2022.918682. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36004351 Free PMC article.
302 results