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Year Number of Results
2003 3
2004 3
2005 2
2008 1
2009 2
2012 1
2013 1
2014 1
2015 2
2016 1
2017 2
2018 1
2019 1
2020 2
2021 5
2022 5
2023 3
2024 0

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32 results

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Page 1
Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
Cova G, Glaser J, Schöpflin R, Prada-Medina CA, Ali S, Franke M, Falcone R, Federer M, Ponzi E, Ficarella R, Novara F, Wittler L, Timmermann B, Gentile M, Zuffardi O, Spielmann M, Mundlos S. Cova G, et al. Among authors: ficarella r. Nat Commun. 2023 May 18;14(1):2839. doi: 10.1038/s41467-023-38736-7. Nat Commun. 2023. PMID: 37202388 Free PMC article. No abstract available.
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
Cova G, Glaser J, Schöpflin R, Prada-Medina CA, Ali S, Franke M, Falcone R, Federer M, Ponzi E, Ficarella R, Novara F, Wittler L, Timmermann B, Gentile M, Zuffardi O, Spielmann M, Mundlos S. Cova G, et al. Among authors: ficarella r. Nat Commun. 2023 Mar 17;14(1):1475. doi: 10.1038/s41467-023-37057-z. Nat Commun. 2023. PMID: 36928426 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: ficarella r. Prenat Diagn. 2022 Dec;42(13):1575-1586. doi: 10.1002/pd.6271. Epub 2022 Nov 30. Prenat Diagn. 2022. PMID: 36403097
Case report: Mesothelioma and BAP1 tumor predisposition syndrome: Implications for public health.
Vimercati L, Cavone D, Fortarezza F, Delfino MC, Ficarella R, Gentile A, De Palma A, Marulli G, De Maria L, Caporusso C, Marzullo A, d'Amati A, Romano DE, Caputi A, Sponselli S, Serio G, Pezzuto F. Vimercati L, et al. Among authors: ficarella r. Front Oncol. 2022 Aug 4;12:966063. doi: 10.3389/fonc.2022.966063. eCollection 2022. Front Oncol. 2022. PMID: 35992853 Free PMC article.
Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report.
Inchingolo AD, Patano A, Coloccia G, Ceci S, Inchingolo AM, Marinelli G, Malcangi G, Montenegro V, Laudadio C, Palmieri G, Bordea IR, Ponzi E, Orsini P, Ficarella R, Scarano A, Lorusso F, Dipalma G, Corsalini M, Gentile M, Venere DD, Inchingolo F. Inchingolo AD, et al. Among authors: ficarella r. Medicina (Kaunas). 2021 Dec 10;57(12):1350. doi: 10.3390/medicina57121350. Medicina (Kaunas). 2021. PMID: 34946295 Free PMC article.
Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model.
Mignogna ML, Ficarella R, Gelmini S, Marzulli L, Ponzi E, Gabellone A, Peschechera A, Alessio M, Margari L, Gentile M, D'Adamo P. Mignogna ML, et al. Among authors: ficarella r. Hum Mol Genet. 2022 May 4;31(9):1389-1406. doi: 10.1093/hmg/ddab320. Hum Mol Genet. 2022. PMID: 34761259 Free PMC article.
Cytogenetic and Array-CGH Characterization of a Simple Case of Reciprocal t(3;10) Translocation Reveals a Hidden Deletion at 5q12.
Cellamare A, Coccaro N, Nuzzi MC, Casieri P, Tampoia M, Maggiolini FAM, Gentile M, Ficarella R, Ponzi E, Conserva MR, Cardarelli L, Panarese A, Antonacci F, Gesario A. Cellamare A, et al. Among authors: ficarella r. Genes (Basel). 2021 Jun 7;12(6):877. doi: 10.3390/genes12060877. Genes (Basel). 2021. PMID: 34200357 Free PMC article.
32 results