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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: toschi b. 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.
Acro-cardio-facial syndrome: a microdeletion syndrome?
Toschi B, Valetto A, Bertini V, Congregati C, Cantinotti M, Assanta N, Simi P. Toschi B, et al. Am J Med Genet A. 2012 Aug;158A(8):1994-9. doi: 10.1002/ajmg.a.35444. Epub 2012 Jun 27. Am J Med Genet A. 2012. PMID: 22740423
A 17q duplication prenatally detected.
Bruno R, Valetto A, Bertini V, Cosini C, Toschi B, Congregati C, Rossi S, Simi P. Bruno R, et al. Among authors: toschi b. Taiwan J Obstet Gynecol. 2015 Jun;54(3):326-9. doi: 10.1016/j.tjog.2014.05.008. Taiwan J Obstet Gynecol. 2015. PMID: 26166353 Free article. No abstract available.
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Silengo MC, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G. Micale L, et al. Among authors: toschi b. Orphanet J Rare Dis. 2011 Jun 9;6:38. doi: 10.1186/1750-1172-6-38. Orphanet J Rare Dis. 2011. PMID: 21658225 Free PMC article.
Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.
Valetto A, Orsini A, Bertini V, Toschi B, Bonuccelli A, Simi F, Sammartino I, Taddeucci G, Simi P, Saggese G. Valetto A, et al. Among authors: toschi b. Eur J Med Genet. 2012 May;55(5):362-6. doi: 10.1016/j.ejmg.2012.03.011. Epub 2012 Apr 24. Eur J Med Genet. 2012. PMID: 22548977
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
Micale L, Augello B, Maffeo C, Selicorni A, Zucchetti F, Fusco C, De Nittis P, Pellico MT, Mandriani B, Fischetto R, Boccone L, Silengo M, Biamino E, Perria C, Sotgiu S, Serra G, Lapi E, Neri M, Ferlini A, Cavaliere ML, Chiurazzi P, Monica MD, Scarano G, Faravelli F, Ferrari P, Mazzanti L, Pilotta A, Patricelli MG, Bedeschi MF, Benedicenti F, Prontera P, Toschi B, Salviati L, Melis D, Di Battista E, Vancini A, Garavelli L, Zelante L, Merla G. Micale L, et al. Among authors: toschi b. Hum Mutat. 2014 Jul;35(7):841-50. doi: 10.1002/humu.22547. Epub 2014 Apr 9. Hum Mutat. 2014. PMID: 24633898 Free PMC article.
31 results