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Page 1
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.
Knerr I, Colombo R, Urquhart J, Morais A, Merinero B, Oyarzabal A, Pérez B, Jones SA, Perveen R, Preece MA, Rogers Y, Treacy EP, Mayne P, Zampino G, MacKinnon S, Wassmer E, Yue WW, Robinson I, Rodríguez-Pombo P, Olpin SE, Banka S. Knerr I, et al. Among authors: zampino g. J Inherit Metab Dis. 2019 Sep;42(5):809-817. doi: 10.1002/jimd.12135. Epub 2019 Aug 1. J Inherit Metab Dis. 2019. PMID: 31177572 Free article.
Enhanced human brain associative plasticity in Costello syndrome.
Dileone M, Profice P, Pilato F, Alfieri P, Cesarini L, Mercuri E, Leoni C, Tartaglia M, Di Iorio R, Zampino G, Di Lazzaro V. Dileone M, et al. Among authors: zampino g. J Physiol. 2010 Sep 15;588(Pt 18):3445-56. doi: 10.1113/jphysiol.2010.191072. Epub 2010 Jul 26. J Physiol. 2010. PMID: 20660566 Free PMC article.
Children with special health care needs attending emergency department in Italy: analysis of 3479 cases.
Cianci P, D'Apolito V, Moretti A, Barbagallo M, Paci S, Carbone MT, Lubrano R, Urbino A, Dionisi Vici C, Memo L, Zampino G, La Marca G, Villani A, Corsello G, Selicorni A; Italian Society of Pediatrics (SIP); Italian Society of Pediatric Genetic Diseases and Congenital Disabilities (SIMGePed) the Italian Society of Pediatric Emergency Medicine (SIMEUP); Italian Society For The Study Of Inborn Metabolic Disorders And Newborn Screening (SIMMENS) and Members of Italian Network. Cianci P, et al. Among authors: zampino g. Ital J Pediatr. 2020 Nov 23;46(1):173. doi: 10.1186/s13052-020-00937-x. Ital J Pediatr. 2020. PMID: 33228805 Free PMC article.
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.
Parenti I, Gervasini C, Pozojevic J, Wendt KS, Watrin E, Azzollini J, Braunholz D, Buiting K, Cereda A, Engels H, Garavelli L, Glazar R, Graffmann B, Larizza L, Lüdecke HJ, Mariani M, Masciadri M, Pié J, Ramos FJ, Russo S, Selicorni A, Stefanova M, Strom TM, Werner R, Wierzba J, Zampino G, Gillessen-Kaesbach G, Wieczorek D, Kaiser FJ. Parenti I, et al. Among authors: zampino g. Clin Genet. 2016 May;89(5):564-73. doi: 10.1111/cge.12717. Epub 2016 Jan 25. Clin Genet. 2016. PMID: 26671848
Visual function in Noonan and LEOPARD syndrome.
Alfieri P, Cesarini L, Zampino G, Pantaleoni F, Selicorni A, Salerni A, Vasta I, Cerutti M, Dickmann A, Colitto F, Staccioli S, Leoni C, Ricci D, Brogna C, Tartaglia M, Mercuri E. Alfieri P, et al. Among authors: zampino g. Neuropediatrics. 2008 Dec;39(6):335-40. doi: 10.1055/s-0029-1216354. Epub 2009 Jun 30. Neuropediatrics. 2008. PMID: 19568997
Wolf-Hirschhorn syndrome with improvement of renal function.
Ferrara P, Del Bufalo F, Nicoletti A, Romano V, Gatto A, Leoni C, Zampino G. Ferrara P, et al. Among authors: zampino g. Am J Med Genet A. 2010 May;152A(5):1283-4. doi: 10.1002/ajmg.a.33357. Am J Med Genet A. 2010. PMID: 20425837
Noonan syndrome: clinical aspects and molecular pathogenesis.
Tartaglia M, Zampino G, Gelb BD. Tartaglia M, et al. Among authors: zampino g. Mol Syndromol. 2010 Feb;1(1):2-26. doi: 10.1159/000276766. Epub 2010 Jan 15. Mol Syndromol. 2010. PMID: 20648242 Free PMC article.
Dystonia in Costello syndrome.
Dileone M, Zampino G, Profice P, Pilato F, Leoni C, Ranieri F, Capone F, Tartaglia M, Brown P, Di Lazzaro V. Dileone M, et al. Among authors: zampino g. Parkinsonism Relat Disord. 2012 Jul;18(6):798-800. doi: 10.1016/j.parkreldis.2012.03.015. Epub 2012 Apr 15. Parkinsonism Relat Disord. 2012. PMID: 22510203
Visual perception skills: a comparison between patients with Noonan syndrome and 22q11.2 deletion syndrome.
Piccini G, Menghini D, D'Andrea A, Caciolo C, Pontillo M, Armando M, Perrino F, Mandolesi L, Salerni A, Buzzonetti L, Digilio MC, Zampino G, Tartaglia M, Benassi M, Vicari S, Alfieri P. Piccini G, et al. Among authors: zampino g. Genes Brain Behav. 2017 Jul;16(6):627-634. doi: 10.1111/gbb.12381. Epub 2017 May 23. Genes Brain Behav. 2017. PMID: 28378436 Free article.
273 results