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Page 1
Endocrine, auxological and metabolic profile in children and adolescents with Down syndrome: from infancy to the first steps into adult life.
Molinari S, Fossati C, Nicolosi ML, Di Marco S, Faraguna MC, Limido F, Ocello L, Pellegrinelli C, Lattuada M, Gazzarri A, Lazzerotti A, Sala D, Vimercati C, Capitoli G, Daolio C, Biondi A, Balduzzi A, Cattoni A. Molinari S, et al. Among authors: daolio c. Front Endocrinol (Lausanne). 2024 Apr 8;15:1348397. doi: 10.3389/fendo.2024.1348397. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38654931 Free PMC article. Review.
Distinguishing genetic alterations versus (epi)mutations in Silver-Russell syndrome and focus on the IGF1R gene.
Vimercati A, Tannorella P, Guzzetti S, Calzari L, Gentilini D, Manfredini E, Gori G, Gaudino R, Antona V, Piccione M, Daolio C, Auricchio R, Sirchia F, Minelli A, Rossi E, Bellini M, Biasucci G, Raucci AR, Pozzobon G, Patti G, Napoli F, Larizza L, Maghnie M, Russo S. Vimercati A, et al. Among authors: daolio c. J Clin Endocrinol Metab. 2024 Oct 16:dgae730. doi: 10.1210/clinem/dgae730. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 39412159
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.
Peduto C, Cappuccio G, Zeuli R, Zanobio M, Torella A, Alkuraya FS, Joss S, Daolio C, Spinelli AM, Zampieri S; TUDP Study Group; Nigro V, Brunetti-Pierri N. Peduto C, et al. Among authors: daolio c. Am J Med Genet A. 2024 Nov;194(11):e63713. doi: 10.1002/ajmg.a.63713. Epub 2024 Jun 26. Am J Med Genet A. 2024. PMID: 38924631
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith-Wiedemann progeny.
Tannorella P, Calzari L, Daolio C, Mainini E, Vimercati A, Gentilini D, Soli F, Pedrolli A, Bonati MT, Larizza L, Russo S. Tannorella P, et al. Among authors: daolio c. Clin Epigenetics. 2022 Mar 22;14(1):43. doi: 10.1186/s13148-022-01262-2. Clin Epigenetics. 2022. PMID: 35317853 Free PMC article.
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