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Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.
Turco EM, Giovenale AMG, Sireno L, Mazzoni M, Cammareri A, Marchioretti C, Goracci L, Di Veroli A, Marchesan E, D'Andrea D, Falconieri A, Torres B, Bernardini L, Magnifico MC, Paone A, Rinaldo S, Della Monica M, D'Arrigo S, Postorivo D, Nardone AM, Zampino G, Onesimo R, Leoni C, Caicci F, Raimondo D, Binda E, Trobiani L, De Jaco A, Tata AM, Ferrari D, Cutruzzolà F, Mazzoccoli G, Ziviani E, Pennuto M, Vescovi AL, Rosati J. Turco EM, et al. Among authors: postorivo d. Cell Death Dis. 2022 Nov 21;13(11):981. doi: 10.1038/s41419-022-05410-7. Cell Death Dis. 2022. PMID: 36411275 Free PMC article.
Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7.
Turco EM, Vinci E, Altieri F, Ferrari D, Torres B, Goldoni M, Lamorte G, Tata AM, Mazzoccoli G, Postorivo D, Della Monica M, Bernardini L, Vescovi AL, Rosati J. Turco EM, et al. Among authors: postorivo d. Stem Cell Res. 2018 Oct;32:73-77. doi: 10.1016/j.scr.2018.09.002. Epub 2018 Sep 6. Stem Cell Res. 2018. PMID: 30218896 Free article.
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: postorivo d. 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.
Identification of i(X)(p10) as the sole molecular abnormality in atypical chronic myeloid leukemia evolved into acute myeloid leukemia.
Gurnari C, Panetta P, Fabiani E, Nardone AM, Postorivo D, Falconi G, Franceschini L, Rizzo M, Rapisarda VM, De Bellis E, Lo-Coco F, Voso MT. Gurnari C, et al. Among authors: postorivo d. Mol Clin Oncol. 2018 Mar;8(3):463-465. doi: 10.3892/mco.2017.1543. Epub 2017 Dec 29. Mol Clin Oncol. 2018. PMID: 29468060 Free PMC article.
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: postorivo d. Clin Genet. 2019 Sep;96(3):246-253. doi: 10.1111/cge.13565. Epub 2019 Jun 17. Clin Genet. 2019. PMID: 31090057
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