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High-resolution melting analysis coupled with next-generation sequencing as a simple tool for the identification of a novel somatic BRCA2 variant: a case report.
Costella A, De Leo R, Guarino D, D'Indinosante M, Concolino P, Mazzuccato G, Urbani A, Scambia G, Capoluongo E, Fagotti A, Minucci A. Costella A, et al. Among authors: urbani a. Hum Genome Var. 2018 Jun 8;5:10. doi: 10.1038/s41439-018-0006-x. eCollection 2018. Hum Genome Var. 2018. PMID: 29899995 Free PMC article.
Identification of two novel LDLR variants by Next Generation Sequencing.
Moffa S, Mazzuccato G, De Bonis M, De Paolis E, Onori ME, Pontecorvi A, Urbani A, Giaccari A, Capoluongo E, Minucci A. Moffa S, et al. Among authors: urbani a. Ann Ist Super Sanita. 2020 Jan-Mar;56(1):122-127. doi: 10.4415/ANN_20_01_17. Ann Ist Super Sanita. 2020. PMID: 32242544 Free article.
High resolution melting profiles (HRMPs) obtained by magnetic induction cycler (MIC) have been used to monitor the BRCA2 status highlighted by next generation tumor sequencing (NGTS): a combined approach in a diagnostic environment.
Mazzuccato G, De Bonis M, Carboni V, Marchetti C, Urbani A, Scambia G, Capoluongo E, Fagotti A, Minucci A. Mazzuccato G, et al. Among authors: urbani a. Mol Biol Rep. 2020 Jun;47(6):4897-4903. doi: 10.1007/s11033-020-05504-5. Epub 2020 May 28. Mol Biol Rep. 2020. PMID: 32468256
441 results