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Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.
Colombo EA, Locatelli A, Cubells Sánchez L, Romeo S, Elcioglu NH, Maystadt I, Esteve Martínez A, Sironi A, Fontana L, Finelli P, Gervasini C, Pecile V, Larizza L. Colombo EA, et al. Among authors: pecile v. Int J Mol Sci. 2018 Apr 6;19(4):1103. doi: 10.3390/ijms19041103. Int J Mol Sci. 2018. PMID: 29642415 Free PMC article.
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.
Russo S, Calzari L, Mussa A, Mainini E, Cassina M, Di Candia S, Clementi M, Guzzetti S, Tabano S, Miozzo M, Sirchia S, Finelli P, Prontera P, Maitz S, Sorge G, Calcagno A, Maghnie M, Divizia MT, Melis D, Manfredini E, Ferrero GB, Pecile V, Larizza L. Russo S, et al. Among authors: pecile v. Clin Epigenetics. 2016 Mar 1;8:23. doi: 10.1186/s13148-016-0183-8. eCollection 2016. Clin Epigenetics. 2016. PMID: 26933465 Free PMC article.
Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.
Russo S, Calzari L, Mussa A, Mainini E, Cassina M, Di Candia S, Clementi M, Guzzetti S, Tabano S, Miozzo M, Sirchia S, Finelli P, Prontera P, Maitz S, Sorge G, Calcagno A, Maghnie M, Divizia MT, Melis D, Manfredini E, Ferrero GB, Pecile V, Larizza L. Russo S, et al. Among authors: pecile v. Clin Epigenetics. 2016 Apr 21;8:40. doi: 10.1186/s13148-016-0206-5. eCollection 2016. Clin Epigenetics. 2016. PMID: 27110297 Free PMC article. No abstract available.
Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders.
Fontana L, Bedeschi MF, Maitz S, Cereda A, Faré C, Motta S, Seresini A, D'Ursi P, Orro A, Pecile V, Calvello M, Selicorni A, Lalatta F, Milani D, Sirchia SM, Miozzo M, Tabano S. Fontana L, et al. Among authors: pecile v. Epigenetics. 2018;13(9):897-909. doi: 10.1080/15592294.2018.1514230. Epub 2018 Oct 21. Epigenetics. 2018. PMID: 30221575 Free PMC article.
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.
Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: cooperative study of 19 Italian laboratories.
Dalprà L, Giardino D, Finelli P, Corti C, Valtorta C, Guerneri S, Ilardi P, Fortuna R, Coviello D, Nocera G, Amico FP, Martinoli E, Sala E, Villa N, Crosti F, Chiodo F, di Cantogno LV, Savin E, Croci G, Franchi F, Venti G, Donti E, Migliori V, Pettinari A, Bonifacio S, Centrone C, Torricelli F, Rossi S, Simi P, Granata P, Casalone R, Lenzini E, Artifoni L, Pecile V, Barlati S, Bellotti D, Caufin D, Police A, Cavani S, Piombo G, Pierluigi M, Larizza L. Dalprà L, et al. Among authors: pecile v. Genet Med. 2005 Nov-Dec;7(9):620-5. doi: 10.1097/01.gim.0000182876.57766.2d. Genet Med. 2005. PMID: 16301863 Free article.
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.
Catusi I, Recalcati MP, Bestetti I, Garzo M, Valtorta C, Alfonsi M, Alghisi A, Cappellani S, Casalone R, Caselli R, Ceccarini C, Ceglia C, Ciaschini AM, Coviello D, Crosti F, D'Aprile A, Fabretto A, Genesio R, Giagnacovo M, Granata P, Longo I, Malacarne M, Marseglia G, Montaldi A, Nardone AM, Palka C, Pecile V, Pessina C, Postorivo D, Redaelli S, Renieri A, Rigon C, Tiberi F, Tonelli M, Villa N, Zilio A, Zuccarello D, Novelli A, Larizza L, Giardino D. Catusi I, et al. Among authors: pecile v. Mol Genet Genomic Med. 2020 Jan;8(1):e1056. doi: 10.1002/mgg3.1056. Epub 2019 Dec 18. Mol Genet Genomic Med. 2020. PMID: 31851782 Free PMC article.
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
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
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