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Competitive PCR-High Resolution Melting Analysis (C-PCR-HRMA) for large genomic rearrangements (LGRs) detection: A new approach to assess quantitative status of BRCA1 gene in a reference laboratory.
Minucci A, De Paolis E, Concolino P, De Bonis M, Rizza R, Canu G, Scaglione GL, Mignone F, Scambia G, Zuppi C, Capoluongo E. Minucci A, et al. Among authors: de paolis e, de bonis m. Clin Chim Acta. 2017 Jul;470:83-92. doi: 10.1016/j.cca.2017.04.026. Epub 2017 Apr 30. Clin Chim Acta. 2017. PMID: 28465148
A Whole Germline BRCA2 Gene Deletion: How to Learn from CNV In Silico Analysis.
Scaglione GL, Concolino P, De Bonis M, De Paolis E, Minucci A, Ferrandina G, Scambia G, Capoluongo E. Scaglione GL, et al. Among authors: de paolis e, de bonis m. Int J Mol Sci. 2018 Mar 23;19(4):961. doi: 10.3390/ijms19040961. Int J Mol Sci. 2018. PMID: 29570666 Free PMC article.
Multidisciplinary team for elucidation of any new mutation and how this approach can be useful to individualize any genetic result: the case of BRCA2 c.631G>A/c.7008-2A>T genotype Response to: Nagy PL, Mansukhani M. The role of clinical genomic testing in diagnosis and discovery of pathogenic mutations. Expert Rev Mol Diagn 2015;15(9):1101-5.
Minucci A, De Bonis M, Costella A, Scambia G, Scandurra G, Capoluongo E. Minucci A, et al. Among authors: de bonis m. Expert Rev Mol Diagn. 2016 Jul;16(7):715-7. doi: 10.1080/14737159.2016.1184573. Epub 2016 May 17. Expert Rev Mol Diagn. 2016. PMID: 27125725 No abstract available.
413 results