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Page 1
Lewy pathology formation in patient-derived GBA1 Parkinson's disease midbrain organoids.
Frattini E, Faustini G, Lopez G, Carsana EV, Tosi M, Trezzi I, Magni M, Soldà G, Straniero L, Facchi D, Samarani M, Martá-Ariza M, De Luca CMG, Vezzoli E, Pittaro A, Stepanyan A, Silipigni R, Rosety I, Schwamborn JC, Sardi SP, Moda F, Corti S, Comi GP, Blandini F, Tritsch NX, Bortolozzi M, Ferrero S, Cribiù FM, Wisniewski T, Asselta R, Aureli M, Bellucci A, Di Fonzo A. Frattini E, et al. Among authors: silipigni r. Brain. 2024 Nov 21:awae365. doi: 10.1093/brain/awae365. Online ahead of print. Brain. 2024. PMID: 39570889
CTNND1-Related Disorder: New Insight on Prenatal Phenotype.
Conti B, Di Napoli C, Hafdaoui S, Nicotra V, Cesaretti C, Runza L, Accurti V, Boito S, Iascone M, Marchetti D, Silipigni R, Finelli P, Natacci F. Conti B, et al. Among authors: silipigni r. Am J Med Genet A. 2024 Nov 1:e63921. doi: 10.1002/ajmg.a.63921. Online ahead of print. Am J Med Genet A. 2024. PMID: 39487033
A long way to syndromic short stature.
Gaudioso F, Meossi C, Pezzani L, Grilli F, Silipigni R, Russo S, Masciadri M, Vimercati A, Marchisio PG, Bedeschi MF, Milani D. Gaudioso F, et al. Among authors: silipigni r. Ital J Pediatr. 2024 Sep 27;50(1):192. doi: 10.1186/s13052-024-01737-3. Ital J Pediatr. 2024. PMID: 39334216 Free PMC article.
A Case of 18p Chromosomal Deletion Encompassing GNAL in a Patient With Dystonia-Parkinsonism.
Di Rauso G, Cavallieri F, Monfrini E, Fraternali A, Fioravanti V, Grisanti S, Gessani A, Campanini I, Merlo A, Toschi G, Napoli M, Pascarella R, Silipigni R, Finelli P, Paul JJ, Bauer P, Versari A, Di Fonzo A, Valzania F. Di Rauso G, et al. Among authors: silipigni r. J Mov Disord. 2024 Apr;17(2):236-238. doi: 10.14802/jmd.23222. Epub 2024 Jan 23. J Mov Disord. 2024. PMID: 38258373 Free PMC article. No abstract available.
Generation of human induced pluripotent stem cell line EURACi015-A from a patient affected by dilated cardiomyopathy carrying the Lamin A/C p.Glu161Lys mutation.
Cattelan G, Sophie Frommelt L, Volani C, Colliva A, Ciucci G, Paldino A, Dal Ferro M, Di Segni M, Silipigni R, Pramstaller PP, De Bortoli M, Zacchigna S, Rossini A. Cattelan G, et al. Among authors: silipigni r. Stem Cell Res. 2023 Sep;71:103172. doi: 10.1016/j.scr.2023.103172. Epub 2023 Jul 28. Stem Cell Res. 2023. PMID: 37535990 Free article.
Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling.
Doffini A, Forcato C, Mangano C, Lattuada D, Aversa R, Maranta C, Giovannone ED, Buson G, Bolognesi C, Maiocchi R, Dori M, Jamal L, Ahmad RB, Yeo GSH, Yeo TW, Saragozza S, Silipigni R, Serafini M, Biondi A, Perego S, Vergani P, Ferrazzi E, Ricciardi-Castagnoli P, Musci TJ, Grati FR. Doffini A, et al. Among authors: silipigni r. Prenat Diagn. 2023 Jan;43(1):14-27. doi: 10.1002/pd.6275. Epub 2022 Dec 8. Prenat Diagn. 2023. PMID: 36443901 Free PMC article.
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
Grati FR, Bestetti I, De Siero D, Malvestiti F, Villa N, Sala E, Crosti F, Parisi V, Nardone AM, Di Giacomo G, Pettinari A, Tortora G, Montaldi A, Calò A, Saccilotto D, Zanchetti S, Celli P, Guerneri S, Silipigni R, Cardarelli L, Lippi E, Cavani S, Malacarne M, Genesio R, Beltrami N, Pittalis MC, Desiderio L, Gentile M, Ficarella R, Recalcati MP, Catusi I, Garzo M, Miele L, Corti C, Ghezzo S, Bertini V, Cambi F, Valetto A, Facchinetti B, Bernardini L, Capalbo A, Balducci F, Pelo E, Minuti B, Pescucci C, Giuliani C, Renieri A, Longo I, Tita R, Castello G, Casalone R, Righi R, Raso B, Civolani A, Muzi MC, di Natale M, Varriale L, Gasperini D, Nuzzi MC, Cellamare A, Casieri P, Busuito R, Ceccarini C, Cesarano C, Privitera O, Melani D, Menozzi C, Falcinelli C, Calabrese O, Battaglia P, Tanzariello A, Stampalija T, Ardisia C, Gasparini P, Benn P, Novelli A. Grati FR, et al. Among authors: silipigni r. Prenat Diagn. 2022 Dec;42(13):1575-1586. doi: 10.1002/pd.6271. Epub 2022 Nov 30. Prenat Diagn. 2022. PMID: 36403097 Free article.
42 results