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De novo unbalanced translocations have a complex history/aetiology.
Bonaglia MC, Kurtas NE, Errichiello E, Bertuzzo S, Beri S, Mehrjouy MM, Provenzano A, Vergani D, Pecile V, Novara F, Reho P, Di Giacomo MC, Discepoli G, Giorda R, Aldred MA, Santos-Rebouças CB, Goncalves AP, Abuelo DN, Giglio S, Ricca I, Franchi F, Patsalis P, Sismani C, Morí MA, Nevado J, Tommerup N, Zuffardi O. Bonaglia MC, et al. Among authors: pecile v. Hum Genet. 2018 Oct;137(10):817-829. doi: 10.1007/s00439-018-1941-9. Epub 2018 Oct 1. Hum Genet. 2018. PMID: 30276538 Clinical Trial.
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
van Bon BW, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Adès LC, Peters G, Gibson K, Moloney S, Novara F, Pramparo T, Dalla Bernardina B, Zoccante L, Balottin U, Piazza F, Pecile V, Gasparini P, Guerci V, Kets M, Pfundt R, de Brouwer AP, Veltman JA, de Leeuw N, Wilson M, Antony J, Reitano S, Luciano D, Fichera M, Romano C, Brunner HG, Zuffardi O, de Vries BB. van Bon BW, et al. Among authors: pecile v. Eur J Hum Genet. 2010 Feb;18(2):163-70. doi: 10.1038/ejhg.2009.152. Epub 2009 Oct 7. Eur J Hum Genet. 2010. PMID: 19809484 Free PMC article.
De novo balanced chromosome rearrangements in prenatal diagnosis.
Giardino D, Corti C, Ballarati L, Colombo D, Sala E, Villa N, Piombo G, Pierluigi M, Faravelli F, Guerneri S, Coviello D, Lalatta F, Cavallari U, Bellotti D, Barlati S, Croci G, Franchi F, Savin E, Nocera G, Amico FP, Granata P, Casalone R, Nutini L, Lisi E, Torricelli F, Giussani U, Facchinetti B, Guanti G, Di Giacomo M, Susca FP, Pecile V, Romitti L, Cardarelli L, Racalbuto E, Police MA, Chiodo F, Rodeschini O, Falcone P, Donti E, Grimoldi MG, Martinoli E, Stioui S, Caufin D, Lauricella SA, Tanzariello SA, Voglino G, Lenzini E, Besozzi M, Larizza L, Dalprà L. Giardino D, et al. Among authors: pecile v. Prenat Diagn. 2009 Mar;29(3):257-65. doi: 10.1002/pd.2215. Prenat Diagn. 2009. PMID: 19248039
Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism.
Garzo M, Catusi I, Colombo DM, De Grada L, Recalcati MP, Rodeschini O, Barone C, Beltrami N, Busuito R, Cappellani S, Ciaschini AM, Gulisano A, Malpezzi E, Pecile V, Pittalis MC, Romitti L, Stioui S, Larizza L, Giardino D. Garzo M, et al. Among authors: pecile v. Eur J Med Genet. 2020 Feb;63(2):103639. doi: 10.1016/j.ejmg.2019.03.003. Epub 2019 Mar 8. Eur J Med Genet. 2020. PMID: 30858057
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.
Ballarati L, Rossi E, Bonati MT, Gimelli S, Maraschio P, Finelli P, Giglio S, Lapi E, Bedeschi MF, Guerneri S, Arrigo G, Patricelli MG, Mattina T, Guzzardi O, Pecile V, Police A, Scarano G, Larizza L, Zuffardi O, Giardino D. Ballarati L, et al. Among authors: pecile v. J Med Genet. 2007 Jan;44(1):e60. doi: 10.1136/jmg.2006.043059. J Med Genet. 2007. PMID: 17209130 Free PMC article.
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.
Morgan A, Lenarduzzi S, Cappellani S, Pecile V, Morgutti M, Orzan E, Ghiselli S, Ambrosetti U, Brumat M, Gajendrarao P, La Bianca M, Faletra F, Grosso E, Sirchia F, Sensi A, Graziano C, Seri M, Gasparini P, Girotto G. Morgan A, et al. Among authors: pecile v. Front Genet. 2018 Dec 21;9:681. doi: 10.3389/fgene.2018.00681. eCollection 2018. Front Genet. 2018. PMID: 30622556 Free PMC article.
78 results