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Page 1
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.
Marangi G, Ricciardi S, Orteschi D, Lattante S, Murdolo M, Dallapiccola B, Biscione C, Lecce R, Chiurazzi P, Romano C, Greco D, Pettinato R, Sorge G, Pantaleoni C, Alfei E, Toldo I, Magnani C, Bonanni P, Martinez F, Serra G, Battaglia D, Lettori D, Vasco G, Baroncini A, Daolio C, Zollino M. Marangi G, et al. Among authors: daolio c. Am J Med Genet A. 2011 Jul;155A(7):1536-45. doi: 10.1002/ajmg.a.34070. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671391
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.
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: daolio c. 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.
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.
"Double trouble" or an amplification of the triploidy phenotype?
Ludwig K, Pizzi M, Fassan M, Daolio C, Margiotti K, Consoli F, Salmaso R, Rugge M. Ludwig K, et al. Among authors: daolio c. Fetal Pediatr Pathol. 2013 Feb;31(1):60-5. doi: 10.3109/15513815.2012.671444. Epub 2012 Apr 19. Fetal Pediatr Pathol. 2013. PMID: 22515548
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.
16 results