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44 results

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Page 1
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE. Stessman HA, et al. Among authors: vinci m. Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13. Nat Genet. 2017. PMID: 28191889 Free PMC article.
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.
Mei D, Balestrini S, Parrini E, Gambardella A, Annesi G, De Giorgis V, Gana S, Bassi MT, Zucca C, Elia M, Vetri L, Castellotti B, Ragona F, Mastrangelo M, Pisani F, d'Orsi G, Carella M, Pruna D, Giglio S, Marini C, Cesaroni E, Riva A, Scala M, Licchetta L, Minardi R, Contaldo I, Gambardella ML, Cossu A, Proietti J, Cantalupo G; LICE Collaborative Group; Trivisano M, De Dominicis A, Specchio N, Tassi L, Guerrini R. Mei D, et al. J Med Genet. 2024 Dec 31;62(1):25-31. doi: 10.1136/jmg-2024-110328. J Med Genet. 2024. PMID: 39613335 Free article.
PHF21A Related Disorder: Description of a New Case.
Butera A, Nicotera AG, Di Rosa G, Musumeci SA, Vitello GA, Musumeci A, Vinci M, Gloria A, Federico C, Saccone S, Calì F. Butera A, et al. Among authors: vinci m. Int J Mol Sci. 2022 Dec 17;23(24):16130. doi: 10.3390/ijms232416130. Int J Mol Sci. 2022. PMID: 36555772 Free PMC article.
Prader-Willi Syndrome with Angelman Syndrome in the Offspring.
Greco D, Vetri L, Ragusa L, Vinci M, Gloria A, Occhipinti P, Costanzo AA, Quatrosi G, Roccella M, Buono S, Romano C. Greco D, et al. Among authors: vinci m. Medicina (Kaunas). 2021 May 8;57(5):460. doi: 10.3390/medicina57050460. Medicina (Kaunas). 2021. PMID: 34066798 Free PMC article.
New Insights Into TRMT10A Syndrome: Case Report and Literature Review.
Ceraolo G, Spoto G, Butera A, Spanò M, Vinci M, Vitello GA, Musumeci A, Calì F, Nicotera AG, Di Rosa G. Ceraolo G, et al. Among authors: vinci m. Am J Med Genet B Neuropsychiatr Genet. 2024 Oct 23:e33015. doi: 10.1002/ajmg.b.33015. Online ahead of print. Am J Med Genet B Neuropsychiatr Genet. 2024. PMID: 39440920
44 results