Concetta Santonocito
Overview
Explore the profile of Concetta Santonocito including associated specialties, affiliations and a list of published articles.
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45
Citations
337
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Recent Articles
1.
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...
2.
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...
3.
Concolino P, De Paolis E, Moffa S, Onori M, Soldovieri L, Ricciardi Tenore C, et al.
Genes (Basel)
. 2023 Jun;
14(6).
PMID: 37372455
Next-generation sequencing (NGS) is nowadays commonly used for clinical purposes, and represents an efficient approach for the molecular diagnosis of familial hypercholesterolemia (FH). Although the dominant form of the disease...
4.
De Paolis E, Paris I, Tilocca B, Roncada P, Foca L, Tiberi G, et al.
Front Oncol
. 2023 Feb;
12:1053035.
PMID: 36741700
Introduction: Breast cancer (BC) is the leading cause of cancer-related death in women worldwide. Pathogenic variants in BRCA1 and BRCA2 genes account for approximately 50% of all hereditary BC, with...
5.
Concolino P, Tartaglione L, De Paolis E, Carrozza C, Urbani A, Minucci A, et al.
Genes (Basel)
. 2022 Nov;
13(11).
PMID: 36421779
Maturity-onset diabetes of the young (MODY) is a rare form of non-autoimmune diabetes with an autosomal dominant inheritance. To date, 14 genes have been reported as genetic basis of MODY....
6.
Pavese F, Capoluongo E, Muratore M, Minucci A, Santonocito C, Fuso P, et al.
Cancers (Basel)
. 2022 Oct;
14(19).
PMID: 36230495
Triple-negative breast cancer (TNBC) is characterized by earlier recurrence and shorter survival compared with other types of breast cancer. Moreover, approximately 15 to 25% of all TNBC patients harbor germline...
7.
De Paolis E, Concolino P, Onori M, Santonocito C, Marchetti C, Fagotti A, et al.
Mol Biol Rep
. 2021 Oct;
48(12):8203-8209.
PMID: 34643925
Next generation sequencing (NGS) is a widespread molecular biology method integrated into clinical practice to detect genetic variants, for diagnostic and prognostic purposes. The scheduled external quality assessments (EQA) is...
8.
Fuso P, Di Salvatore M, Santonocito C, Guarino D, Autilio C, Mule A, et al.
J Pers Med
. 2021 Aug;
11(8).
PMID: 34442460
Background: The aim of this study is to identify miRNAs able to predict the outcomes in breast cancer patients after neoadjuvant chemotherapy (NAC). Patients And Methods: We retrospectively analyzed 24...
9.
Minucci A, Scambia G, De Bonis M, De Paolis E, Santonocito C, Fagotti A, et al.
Mol Biol Rep
. 2020 Dec;
48(1):983-987.
PMID: 33313973
Recently, our lab, part of a referral center in Italy, reported its experience regarding the execution of germline BRCA1/2 (gBRCA) testing during the first months of the coronavirus disease-2019 (COVID-19)...
10.
Santonocito C, Rizza R, Paris I, De Marchis L, Paolillo C, Tiberi G, et al.
Cancers (Basel)
. 2020 May;
12(5).
PMID: 32438681
Pathogenic variants (PVs) carriers in or are associated with an elevated lifetime risk of developing breast cancer (BC) and/or ovarian cancer (OC). The prevalence of and germline alterations is extremely...