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Page 1
Unveiling new entities in the PAPA spectrum.
Paganelli A, Rossi E, Calabrese O, Bigi L, Cuffari B, Cesinaro AM, Motolese A. Paganelli A, et al. Among authors: calabrese o. Ital J Dermatol Venerol. 2024 Nov 7. doi: 10.23736/S2784-8671.24.07985-4. Online ahead of print. Ital J Dermatol Venerol. 2024. PMID: 39508831 No abstract available.
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
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.
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
Whalen S, Shaw M, Mignot C, Héron D, Bastaraud SC, Walti CC, Liebelt J, Elmslie F, Yap P, Hurst J, Forsythe E, Kirmse B, Ozmore J, Spinelli AM, Calabrese O, de Villemeur TB, Tabet AC, Levy J, Guet A, Kossorotoff M, Kamien B, Morton J, McCabe A, Brischoux-Boucher E, Raas-Rothschild A, Pini A, Carroll R, Hartley JN; Care4Rare Canada Consortium; Frosk P, Slavotinek A, Truxal K, Jennifer C, Dheedene A, Cui H, Kumar V, Thomson G, Riccardi F, Gecz J, Villard L. Whalen S, et al. Among authors: calabrese o. Eur J Hum Genet. 2021 Sep;29(9):1405-1417. doi: 10.1038/s41431-021-00821-0. Epub 2021 Feb 18. Eur J Hum Genet. 2021. PMID: 33603160 Free PMC article.
41 results