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Page 1
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Lionel AC, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B, Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White AC, Leather S, Trounce J, Melanie Bedford H, Hatchwell E, Eis PS, Yuen RK, Walker S, Uddin M, Geraghty MT, Nikkel SM, Tomiak EM, Fernandez BA, Soreni N, Crosbie J, Arnold PD, Schachar RJ, Roberts W, Paterson AD, So J, Szatmari P, Chrysler C, Woodbury-Smith M, Brian Lowry R, Zwaigenbaum L, Mandyam D, Wei J, Macdonald JR, Howe JL, Nalpathamkalam T, Wang Z, Tolson D, Cobb DS, Wilks TM, Sorensen MJ, Bader PI, An Y, Wu BL, Musumeci SA, Romano C, Postorivo D, Nardone AM, Monica MD, Scarano G, Zoccante L, Novara F, Zuffardi O, Ciccone R, Antona V, Carella M, Zelante L, Cavalli P, Poggiani C, Cavallari U, Argiropoulos B, Chernos J, Brasch-Andersen C, Speevak M, Fichera M, Ogilvie CM, Shen Y, Hodge JC, Talkowski ME, Stavropoulos DJ, Marshall CR, Scherer SW. Lionel AC, et al. Among authors: scarano g. Hum Mol Genet. 2014 May 15;23(10):2752-68. doi: 10.1093/hmg/ddt669. Epub 2013 Dec 30. Hum Mol Genet. 2014. PMID: 24381304 Free PMC article.
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.
Vetro A, Goidin D, Lesende I, Limongelli I, Ranzani GN, Novara F, Bonaglia MC, Rinaldi B, Franchi F, Manolakos E, Lonardo F, Scarano F, Scarano G, Costantino L, Tedeschi S, Giglio S, Zuffardi O. Vetro A, et al. Among authors: scarano f, scarano g. Clin Genet. 2018 Mar;93(3):545-556. doi: 10.1111/cge.13060. Epub 2017 Sep 15. Clin Genet. 2018. PMID: 28556904
Small 4p16.3 deletions: Three additional patients and review of the literature.
Bernardini L, Radio FC, Acquaviva F, Gorgone C, Postorivo D, Torres B, Alesi V, Magliozzi M, Lonardo F, Monica MD, Nardone AM, Cesario C, Mattina T, Scarano G, Dallapiccola B, Digilio MC, Novelli A. Bernardini L, et al. Among authors: scarano g. Am J Med Genet A. 2018 Nov;176(11):2501-2508. doi: 10.1002/ajmg.a.40512. Epub 2018 Sep 23. Am J Med Genet A. 2018. PMID: 30244530 Review.
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.
Sinibaldi L, Parisi V, Lanciotti S, Fontana P, Kuechler A, Baujat G, Torres B, Koetting J, Splendiani A, Postorivo D, Beygo J, Garaci FG, Malan V, Lüdecke HJ, Guida V, Krumbiegel M, Lonardo F, Novelli A, Albrecht B, Perria C, Scarano G, Spielmann M, Nardone AM, Battaglia A, Brancati F, Bernardini L. Sinibaldi L, et al. Among authors: scarano g. Clin Genet. 2019 Sep;96(3):246-253. doi: 10.1111/cge.13565. Epub 2019 Jun 17. Clin Genet. 2019. PMID: 31090057
Al-Awadi/Raas-Rothschild syndrome: two new cases and review.
Lonardo F, Sabba G, Luquetti DV, Monica MD, Scarano G. Lonardo F, et al. Among authors: scarano g. Am J Med Genet A. 2007 Dec 15;143A(24):3169-74. doi: 10.1002/ajmg.a.31712. Am J Med Genet A. 2007. PMID: 17431918
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.
Lonardo F, Parenti G, Luquetti DV, Annunziata I, Della Monica M, Perone L, De Gregori M, Zuffardi O, Brunetti-Pierri N, Andria G, Scarano G. Lonardo F, et al. Among authors: scarano g. Eur J Med Genet. 2007 Jul-Aug;50(4):301-8. doi: 10.1016/j.ejmg.2007.04.005. Epub 2007 May 21. Eur J Med Genet. 2007. PMID: 17591464
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.
Marangi G, Ricciardi S, Orteschi D, Tenconi R, Monica MD, Scarano G, Battaglia D, Lettori D, Vasco G, Zollino M. Marangi G, et al. Among authors: scarano g. Am J Med Genet A. 2012 Jul;158A(7):1604-11. doi: 10.1002/ajmg.a.35419. Epub 2012 Jun 7. Am J Med Genet A. 2012. PMID: 22678594
189 results