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Year Number of Results
2015 6
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2019 5
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2023 4
2024 1

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Page 1
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.
Unexpected phenotype in a frameshift mutation of PTCH1.
Beltrami B, Prada E, Tolva G, Scuvera G, Silipigni R, Graziani D, Bulfamante G, Gervasini C, Marchisio P, Milani D. Beltrami B, et al. Among authors: silipigni r. Mol Genet Genomic Med. 2020 Jan;8(1):e987. doi: 10.1002/mgg3.987. Epub 2019 Oct 2. Mol Genet Genomic Med. 2020. PMID: 31578813 Free PMC 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.
Generation of an induced pluripotent stem cell line (EURACi014-A) from a Parkinson's disease patient with an A53T mutation in the SNCA gene by an integration-free reprogramming method.
Gilmozzi V, Gentile G, Riekschnitz DA, Volpato CB, Di Segni M, Silipigni R, Pramstaller PP, Hicks AA, Pichler I, Zanon A. Gilmozzi V, et al. Among authors: silipigni r. Stem Cell Res. 2022 Apr;60:102713. doi: 10.1016/j.scr.2022.102713. Epub 2022 Feb 16. Stem Cell Res. 2022. PMID: 35189566 Free article.
Generation and characterization of induced pluripotent stem cell (iPSC) lines of two asymptomatic individuals carrying a heterozygous exon 7 deletion in Parkin (PRKN) and two non-carriers from the same family.
Castelo Rueda MP, Gilmozzi V, Riekschnitz DA, Di Segni M, Silipigni R, Pramstaller PP, Hicks AA, Pichler I, Zanon A. Castelo Rueda MP, et al. Among authors: silipigni r. Stem Cell Res. 2022 Apr;60:102692. doi: 10.1016/j.scr.2022.102692. Epub 2022 Jan 27. Stem Cell Res. 2022. PMID: 35121197 Free article.
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.
39 results