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188 results

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Page 1
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE. Coe BP, et al. Among authors: buono s. Nat Genet. 2014 Oct;46(10):1063-71. doi: 10.1038/ng.3092. Epub 2014 Sep 14. Nat Genet. 2014. PMID: 25217958 Free PMC article.
Low-Cost Technology-Aided Programs for Supporting People With Motor, Visual, and Intellectual Disabilities in Functional Forms of Occupation and Communication: Proof-of-Concept Study.
Lancioni GE, Singh NN, O'Reilly MF, Sigafoos J, Alberti G, Chiariello V, Desideri L, Buono S. Lancioni GE, et al. Among authors: buono s. JMIR Rehabil Assist Technol. 2023 Mar 24;10:e44239. doi: 10.2196/44239. JMIR Rehabil Assist Technol. 2023. PMID: 36961483 Free PMC article.
Schizophrenia in a patient with subtelomeric duplication of chromosome 22q.
Failla P, Romano C, Alberti A, Vasta A, Buono S, Castiglia L, Luciano D, Di Benedetto D, Fichera M, Galesi O. Failla P, et al. Among authors: buono s. Clin Genet. 2007 Jun;71(6):599-601. doi: 10.1111/j.1399-0004.2007.00819.x. Clin Genet. 2007. PMID: 17539913 No abstract available.
Three new patients with dup(17)(p11.2p11.2) without autism.
Greco D, Romano C, Reitano S, Barone C, Benedetto DD, Castiglia L, Fichera M, Galesi O, Zingale M, Buono S, Uliana V, Caselli R, Canitano R, Hayek G, Renieri A. Greco D, et al. Among authors: buono s. Clin Genet. 2008 Mar;73(3):294-6. doi: 10.1111/j.1399-0004.2007.00959.x. Epub 2008 Jan 23. Clin Genet. 2008. PMID: 18218042 No abstract available.
Disruptive CHD8 mutations define a subtype of autism early in development.
Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT, Schuurs-Hoeijmakers JH, Fichera M, Bosco P, Buono S, Alberti A, Failla P, Peeters H, Steyaert J, Vissers LELM, Francescatto L, Mefford HC, Rosenfeld JA, Bakken T, O'Roak BJ, Pawlus M, Moon R, Shendure J, Amaral DG, Lein E, Rankin J, Romano C, de Vries BBA, Katsanis N, Eichler EE. Bernier R, et al. Among authors: buono s. Cell. 2014 Jul 17;158(2):263-276. doi: 10.1016/j.cell.2014.06.017. Epub 2014 Jul 3. Cell. 2014. PMID: 24998929 Free PMC article.
An inflammatory and trophic disconnect biomarker profile revealed in Down syndrome plasma: Relation to cognitive decline and longitudinal evaluation.
Iulita MF, Ower A, Barone C, Pentz R, Gubert P, Romano C, Cantarella RA, Elia F, Buono S, Recupero M, Romano C, Castellano S, Bosco P, Di Nuovo S, Drago F, Caraci F, Cuello AC. Iulita MF, et al. Among authors: buono s. Alzheimers Dement. 2016 Nov;12(11):1132-1148. doi: 10.1016/j.jalz.2016.05.001. Epub 2016 Jul 21. Alzheimers Dement. 2016. PMID: 27452424
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: buono s. Medicina (Kaunas). 2021 May 8;57(5):460. doi: 10.3390/medicina57050460. Medicina (Kaunas). 2021. PMID: 34066798 Free PMC article.
188 results