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Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome.
Peterson JF, Bick DP, Geddes GC, McCarrier J, Grignon JW Jr, Chirempes B, Broeckel U, Abidi F, Rogers RC, Boccuto L, DuPont B, vanTuinen P. Peterson JF, et al. Among authors: boccuto l. Am J Med Genet A. 2016 Dec;170(12):3348-3351. doi: 10.1002/ajmg.a.37939. Epub 2016 Aug 23. Am J Med Genet A. 2016. PMID: 27549580 No abstract available.
Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.
Agostini M, Tibiletti MG, Lucci-Cordisco E, Chiaravalli A, Morreau H, Furlan D, Boccuto L, Pucciarelli S, Capella C, Boiocchi M, Viel A. Agostini M, et al. Among authors: boccuto l. Am J Gastroenterol. 2005 Aug;100(8):1886-91. doi: 10.1111/j.1572-0241.2005.50441.x. Am J Gastroenterol. 2005. PMID: 16144131
Chemical Effect of Bisphenol A on Non-Alcoholic Fatty Liver Disease.
Dallio M, Diano N, Masarone M, Gravina AG, Patanè V, Romeo M, Di Sarno R, Errico S, Nicolucci C, Abenavoli L, Scarpellini E, Boccuto L, Persico M, Loguercio C, Federico A. Dallio M, et al. Among authors: boccuto l. Int J Environ Res Public Health. 2019 Aug 28;16(17):3134. doi: 10.3390/ijerph16173134. Int J Environ Res Public Health. 2019. PMID: 31466361 Free PMC article. Review.
Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour.
Cerrato F, Sparago A, Verde G, De Crescenzo A, Citro V, Cubellis MV, Rinaldi MM, Boccuto L, Neri G, Magnani C, D'Angelo P, Collini P, Perotti D, Sebastio G, Maher ER, Riccio A. Cerrato F, et al. Among authors: boccuto l. Hum Mol Genet. 2008 May 15;17(10):1427-35. doi: 10.1093/hmg/ddn031. Epub 2008 Feb 1. Hum Mol Genet. 2008. PMID: 18245780 Free article.
133 results