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23 results

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Page 1
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. 2025 Mar 17;110(4):e932-e944. doi: 10.1210/clinem/dgae730. J Clin Endocrinol Metab. 2025. PMID: 39412159 Free PMC article.
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.
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome.
Di Letto P, Budillon A, Rahman SI, Del Vecchio Blanco F, Zanobio M, Scarpato M, Russo M, Onore ME, Piluso G; TUDP Study Group; Nigro V, Scarano G, Torella A. Di Letto P, et al. Am J Med Genet A. 2025 Jul;197(7):e64039. doi: 10.1002/ajmg.a.64039. Epub 2025 Mar 10. Am J Med Genet A. 2025. PMID: 40062685
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.
Lucca C, Rosina E, Pezzani L, Piazzolla D, Spaccini L, Scatigno A, Gasperini S, Pezzoli L, Cereda A, Milani D, Cattaneo E, Cavallari U, Frigeni M, Marchetti D, Daolio C, Giordano L, Bellini M, Goisis L, Mongodi C, Tonduti D, Pilotta A, Cazzaniga G, Furlan F, Bedeschi MF, Mangili G, Bonanomi E, Iascone M. Lucca C, et al. Among authors: daolio c. Clin Genet. 2025 Oct;108(4):412-421. doi: 10.1111/cge.14760. Epub 2025 Apr 24. Clin Genet. 2025. PMID: 40274276 Free PMC article.
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.
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.
Di Letto P, De Leonibus C, Palmieri FP, Zanobio M, Scarpato M, Cetrangolo V, Rahman SI, Selicorni A, Mariani M, D'Arrigo S, Ciaccio C, Milani D, Ajmone PF, Morleo M, Spampanato C, Piluso G, Zollino M, L'Erario FF, Greco D, Capra V, Scala M, Romano F, Terrone G, De Falco A, Paolella C, Mastrangelo M, Ricciardi G, Brunetti-Pierri N; Telethon Undiagnosed Diseases Program Study Group; Nigro V, Torella A. Di Letto P, et al. Neurol Genet. 2025 Oct 20;11(6):e200312. doi: 10.1212/NXG.0000000000200312. eCollection 2025 Dec. Neurol Genet. 2025. PMID: 41127311 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.
23 results