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Elisa De Paolis

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Articles 49
Citations 210
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Recent Articles
1.
De Paolis E, Nero C, Micarelli E, Leoni G, Piermattei A, Trozzi R, et al.
NPJ Precis Oncol . 2024 Dec; 8(1):283. PMID: 39706858
Endometrial cancer (EC) with Mismatch Repair deficiency (MMRd) is characterized by the accumulation of insertions/deletions at microsatellite sites. These mutations lead to the synthesis of frameshift peptides (FSPs) that represent...
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Ricciardi Tenore C, Tulli E, Calo C, Bertozzi R, Evangelista J, Maneri G, et al.
Genes (Basel) . 2024 Oct; 15(10). PMID: 39457422
Glucose 6 phosphate dehydrogenase ( is a rate-limiting enzyme of the pentose phosphate pathway. The loss of activity in red blood cells increases the risk of acute haemolytic anaemia under...
3.
Vitale A, Mastrantoni L, Russo J, Giacomini F, Giannarelli D, Duranti S, et al.
JCO Precis Oncol . 2024 Oct; 8:e2400297. PMID: 39374480
Purpose: The clinical and research FPG500 program (ClinicalTrials.gov identifier: NCT06020625) is currently ongoing at the Fondazione Policlinico Universitario Agostino Gemelli IRCCS to tailor matched targeted therapies (MTTs) according to biomarkers...
4.
Lococo F, De Paolis E, Evangelista J, DellAmore A, Giannarelli D, Chiappetta M, et al.
Int J Mol Sci . 2024 Sep; 25(17). PMID: 39273507
Molecular profiles of thymomas and recurrent thymomas are far from being defined. Herein, we report an analysis of a comprehensive genetic profile (CGP) in a highly selected cohort of recurrent...
5.
Piana D, Iavarone F, De Paolis E, Daniele G, Parisella F, Minucci A, et al.
Int J Mol Sci . 2024 Aug; 25(16). PMID: 39201516
Tumor heterogeneity refers to the diversity observed among tumor cells: both between different tumors (inter-tumor heterogeneity) and within a single tumor (intra-tumor heterogeneity). These cells can display distinct morphological and...
6.
De Paolis E, Raspaglio G, Ciferri N, Zangrilli I, Ricciardi Tenore C, Urbani A, et al.
J Clin Med . 2024 Aug; 13(16). PMID: 39200828
: Pathogenic variants in the Polycystic Kidney Disease 2 (PKD2) gene are associated with Autosomal Dominant Polycystic Kidney Disease (ADPKD) in approximately 30% of cases. In recent years, the high-throughput...
7.
De Paolis E, Tilocca B, Inchingolo R, Lombardi C, Perrucci A, Maneri G, et al.
Mol Biol Rep . 2024 Jul; 51(1):849. PMID: 39052151
Background: CFTR-related disorder (CFTR-RD) is a clinical entity associated to complex diagnostic paths and newly upgraded standard of care. In CFTR-RD, CFTR genotyping represents a diagnostic surrogate marker. In case...
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Lococo F, Boldrini L, Diepriye C, Evangelista J, Nero C, Flamini S, et al.
BMC Cancer . 2023 Nov; 23(1):1082. PMID: 37946178
No abstract available.
10.
De Paolis E, Tilocca B, Lombardi C, De Bonis M, Concolino P, Onori M, et al.
Genes (Basel) . 2023 Aug; 14(8). PMID: 37628659
The incidence of cystic fibrosis (CF) and the spectrum of cystic fibrosis transmembrane conductance regulator (CFTR) gene variants differ among geographic regions. Differences in CF carrier distribution are also reported...