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Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay.
Concolino P, De Paolis E, Rinelli M, Maneri G, Brisighelli F, Trozzi R, Duranti S, Giacò L, Piane M, Preziosi A, Panfili A, Scambia G, Nero C, De Bonis M, Minucci A. Concolino P, et al. Among authors: panfili a. Ann Lab Med. 2024 May 31. doi: 10.3343/alm.2024.0051. Online ahead of print. Ann Lab Med. 2024. PMID: 38826062 Free article. No abstract available.
Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care.
Baban A, Parlapiano G, Cicenia M, Armando M, Franceschini A, Pacifico C, Panfili A, Zinzanella G, Romanzo A, Fusco A, Caiazza M, Perri G, Galletti L, Digilio MC, Buonuomo PS, Bartuli A, Novelli A, Raponi M, Limongelli G. Baban A, et al. Among authors: panfili a. J Cardiovasc Dev Dis. 2024 Apr 3;11(4):114. doi: 10.3390/jcdd11040114. J Cardiovasc Dev Dis. 2024. PMID: 38667733 Free PMC article. Review.
Caloric restriction and metformin selectively improved LKB1-mutated NSCLC tumor response to chemo- and chemo-immunotherapy.
Ndembe G, Intini I, Moro M, Grasselli C, Panfili A, Panini N, Bleve A, Occhipinti M, Borzi C, Garassino MC, Marabese M, Canesi S, Scanziani E, Sozzi G, Broggini M, Ganzinelli M. Ndembe G, et al. Among authors: panfili a. J Exp Clin Cancer Res. 2024 Jan 2;43(1):6. doi: 10.1186/s13046-023-02933-5. J Exp Clin Cancer Res. 2024. PMID: 38163906 Free PMC article.
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.
Pasquetti D, L'Erario FF, Marangi G, Panfili A, Chiurazzi P, Sonnini E, Orteschi D, Alfieri P; TUDP Study Group; Morleo M, Nigro V, Zollino M. Pasquetti D, et al. Among authors: panfili a. Clin Genet. 2024 Jan;105(1):81-86. doi: 10.1111/cge.14414. Epub 2023 Aug 9. Clin Genet. 2024. PMID: 37558216
15 results