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Year Number of Results
2009 1
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2017 1
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2020 2
2021 5
2022 4
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18 results

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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: calabrese o. Prenat Diagn. 2022 Dec;42(13):1575-1586. doi: 10.1002/pd.6271. Epub 2022 Nov 30. Prenat Diagn. 2022. PMID: 36403097 Free article.
Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence).
Baldelli I, Baccarani A, Barone C, Bedeschi F, Bianca S, Calabrese O, Castori M, Catena N, Corain M, Costanzo S, Barbato GP, De Stefano S, Divizia MT, Feletti F, Formica M, Lando M, Lerone M, Lorenzetti F, Martinoli C, Mellini L, Nava MB, Porcellini G, Puliti A, Romanini MV, Rondoni F, Santi P, Sartini S, Senes F, Spada L, Tarani L, Valle M, Venturino C, Zaottini F, Torre M, Crimi M. Baldelli I, et al. Among authors: calabrese o. Orphanet J Rare Dis. 2020 Aug 5;15(1):201. doi: 10.1186/s13023-020-01481-x. Orphanet J Rare Dis. 2020. PMID: 32758259 Free PMC article. Review.
Townes-Brocks syndrome with craniosynostosis in two siblings.
Lugli L, Rossi C, Ceccarelli PL, Calabrese O, Bedetti L, Miselli F, Bianchini MA, Iughetti L, Berardi A. Lugli L, et al. Among authors: calabrese o. Eur J Med Genet. 2022 Dec;65(12):104642. doi: 10.1016/j.ejmg.2022.104642. Epub 2022 Oct 15. Eur J Med Genet. 2022. PMID: 36252910
Age and sex prevalence estimate of Joubert syndrome in Italy.
Nuovo S, Bacigalupo I, Ginevrino M, Battini R, Bertini E, Borgatti R, Casella A, Micalizzi A, Nardella M, Romaniello R, Serpieri V, Zanni G, Valente EM, Vanacore N; JS Italian Study Group. Nuovo S, et al. Neurology. 2020 Feb 25;94(8):e797-e801. doi: 10.1212/WNL.0000000000008996. Epub 2020 Jan 22. Neurology. 2020. PMID: 31969461 Free PMC article.
Correspondence on "Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG".
Lugli L, Pollazzon M, Bigoni S, Caraffi SG, Ferlini A, Ferri L, Morrone A, Calabrese O, Iughetti L, Garavelli L, Berardi A. Lugli L, et al. Among authors: calabrese o. Am J Med Genet A. 2022 Jan;188(1):382-383. doi: 10.1002/ajmg.a.62511. Epub 2021 Sep 25. Am J Med Genet A. 2022. PMID: 34562059 No abstract available.
Correspondence on "Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities," by Carmignac et al.
Resta N, Calabrese O, Grossi V, Lugli L, Simone C, Ranieri C, Piglionica M, Lepore Signorile M, Rossi K, Carli D, Mussa A. Resta N, et al. Among authors: calabrese o. Genet Med. 2021 Nov;23(11):2223-2224. doi: 10.1038/s41436-021-01256-0. Epub 2021 Jul 7. Genet Med. 2021. PMID: 34234302 Free article. No abstract available.
Cannonball-Like Lung Nodules in a Patient With a Colorectal Tumor.
Scamporlino A, Mengoli MC, Calabrese O, Della Casa G, Aramini B, Spallanzani A, Morandi U, Stefani A. Scamporlino A, et al. Among authors: calabrese o. Chest. 2019 Oct;156(4):e85-e89. doi: 10.1016/j.chest.2019.05.007. Chest. 2019. PMID: 31590720
18 results