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BRCA testing in a genomic diagnostics referral center during the COVID-19 pandemic
Author / Creator:Minucci, Angelo ; Scambia, Giovanni ; Santonocito, Concetta ; Concolino, Paola ; Urbani, Andrea
Publisher:Dordrecht: Springer Netherlands
Journal title:Molecular biology reports, 2020-06, Vol.47 (6), p.4857-4860
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BRCA testing delay during the COVID-19 pandemic: How to act?
Author / Creator:Minucci, Angelo ; Scambia, Giovanni ; De Bonis, Maria ; De Paolis, Elisa ; Santonocito, Concetta ; Fagotti, Anna ; Capoluongo, Ettore ; Concolino, Paola ; Urbani, Andrea
Publisher:Dordrecht: Springer Netherlands
Journal title:Molecular biology reports, 2021-01, Vol.48 (1), p.983-987
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Tumor BRCA testing in ovarian cancer and EQA scheme: our experience of a critical evaluation
Author / Creator:De Paolis, Elisa ; Concolino, Paola ; Onori, Maria Elisabetta ; Santonocito, Concetta ; Marchetti, Claudia ; Fagotti, Anna ; Scambia, Giovanni ; Urbani, Andrea ; Minucci, Angelo
Publisher:Dordrecht: Springer Netherlands
Journal title:Molecular biology reports, 2021-12, Vol.48 (12), p.8203-8209
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FOXM1 expression is significantly associated with chemotherapy resistance and adverse prognosis in non-serous epithelial ovarian cancer patients
Author / Creator:Tassi, Renata A. ; Todeschini, Paola ; Siegel, Eric R. ; Calza, Stefano ; Cappella, Paolo ; Ardighieri, Laura ; Cadei, Moris ; Bugatti, Mattia ; Romani, Chiara ; Bandiera, Elisabetta ; Zanotti, Laura ; Tassone, Laura ; Guarino, Donatella ; Santonocito, Concetta ; Capoluongo, Ettore D. ; Beltrame, Luca ; Erba, Eugenio ; Marchini, Sergio ; D’Incalci, Maurizio ; Donzelli, Carla ; Santin, Alessandro D. ; Pecorelli, Sergio ; Sartori, Enrico ; Bignotti, Eliana ; Odicino, Franco ; Ravaggi, Antonella
Publisher:England: BioMed Central Ltd
Journal title:Journal of experimental & clinical cancer research, 2017-05, Vol.36 (1), p.63-63, Article 63
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XRCC1 Arg399Gln Gene Polymorphism and Hepatocellular Carcinoma Risk in the Italian Population
Author / Creator:Santonocito, Concetta ; Scapaticci, Margherita ; Nedovic, Bojan ; Annicchiarico, Eleonora B. ; Guarino, Donatella ; Leoncini, Emanuele ; Boccia, Stefania ; Gasbarrini, Antonio ; Capoluongo, Ettore
Publisher:London, England: SAGE Publications
Journal title:The International journal of biological markers, 2017-04, Vol.32 (2), p.190-194
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Luteoma of Pregnancy Presenting with Severe Maternal Virilisation: A Case Report
Author / Creator:Cavalli, Giorgia ; Santonocito, Veronica Concetta ; Pedalino, Francesco ; Rapisarda, Vincenzo ; Zarbo, Giuseppe
Publisher:Cairo, Egypt: Hindawi Publishing Corporation
Journal title:Case reports in obstetrics and gynecology, 2016-01, Vol.2016 (2016), p.1-4
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Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome
Author / Creator:Santonocito, Concetta ; Rizza, Roberta ; Paris, Ida ; De Marchis, Laura ; Paolillo, Carmela ; Tiberi, Giordana ; Scambia, Giovanni ; Capoluongo, Ettore
Publisher:Switzerland: MDPI
Journal title:Cancers, 2020-05, Vol.12 (5), p.1286
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A Novel GCK Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing
Author / Creator:Concolino, Paola ; Tartaglione, Linda ; De Paolis, Elisa ; Carrozza, Cinzia ; Urbani, Andrea ; Minucci, Angelo ; Pitocco, Dario ; Santonocito, Concetta
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2022-11, Vol.13 (11), p.2104
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A Novel IGCK/I Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing
Author / Creator:Concolino, Paola ; Tartaglione, Linda ; De Paolis, Elisa ; Carrozza, Cinzia ; Urbani, Andrea ; Minucci, Angelo ; Pitocco, Dario ; Santonocito, Concetta
Publisher:MDPI AG
Journal title:Genes, 2022-11, Vol.13 (11)
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BRCA Mutation Status in Triple-Negative Breast Cancer Patients Treated with Neoadjuvant Chemotherapy: A Pivotal Role for Treatment Decision-Making
Author / Creator:Pavese, Francesco ; Capoluongo, Ettore Domenico ; Muratore, Margherita ; Minucci, Angelo ; Santonocito, Concetta ; Fuso, Paola ; Concolino, Paola ; Di Stasio, Enrico ; Carbognin, Luisa ; Tiberi, Giordana ; Garganese, Giorgia ; Corrado, Giacomo ; Di Leone, Alba ; Generali, Daniele ; Fragomeni, Simona Maria ; D’Angelo, Tatiana ; Franceschini, Gianluca ; Masetti, Riccardo ; Fabi, Alessandra ; Mulè, Antonino ; Santoro, Angela ; Belli, Paolo ; Tortora, Giampaolo ; Scambia, Giovanni ; Paris, Ida
Publisher:Basel: MDPI AG
Journal title:Cancers, 2022-09, Vol.14 (19), p.4571
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Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South–Central Italian Cohort
Author / Creator:De Paolis, Elisa ; Tilocca, Bruno ; Lombardi, Carla ; De Bonis, Maria ; Concolino, Paola ; Onori, Maria Elisabetta ; Ricciardi Tenore, Claudio ; Perrucci, Alessia ; Roncada, Paola ; Capoluongo, Ettore ; Urbani, Andrea ; Minucci, Angelo ; Santonocito, Concetta
Publisher:Basel: MDPI AG
Journal title:Genes, 2023-08, Vol.14 (8), p.1608
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Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family
Author / Creator:Concolino, Paola ; De Paolis, Elisa ; Moffa, Simona ; Onori, Maria Elisabetta ; Soldovieri, Laura ; Ricciardi Tenore, Claudio ; De Bonis, Maria ; Rabacchi, Claudio ; Santonocito, Concetta ; Rinelli, Martina ; Calandra, Sebastiano ; Giaccari, Andrea ; Urbani, Andrea ; Minucci, Angelo
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-06, Vol.14 (6), p.1275
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Let-7a-5p, miR-100-5p, miR-101-3p, and miR-199a-3p Hyperexpression as Potential Predictive Biomarkers in Early Breast Cancer Patients
Author / Creator:Fuso, Paola ; Di Salvatore, Mariantonietta ; Santonocito, Concetta ; Guarino, Donatella ; Autilio, Chiara ; Mulè, Antonino ; Arciuolo, Damiano ; Rinninella, Antonina ; Mignone, Flavio ; Ramundo, Matteo ; Di Stefano, Brunella ; Orlandi, Armando ; Capoluongo, Ettore ; Nicolotti, Nicola ; Franceschini, Gianluca ; Sanchez, Alejandro Martin ; Tortora, Giampaolo ; Scambia, Giovanni ; Barone, Carlo ; Cassano, Alessandra
Publisher:Switzerland: MDPI AG
Journal title:Journal of personalized medicine, 2021-08, Vol.11 (8), p.816
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High Resolution Melting Analysis is Very Useful to Identify Breast Cancer Type 1 Susceptibility Protein (BRCA1) c.4964_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood a...
Author / Creator:Minucci, Angelo ; De Bonis, Maria ; De Paolis, Elisa ; Gentile, Leonarda ; Santonocito, Concetta ; Concolino, Paola ; Mignone, Flavio ; Capoluongo, Ettore
Publisher:Cham: Springer International Publishing
Journal title:Molecular diagnosis & therapy, 2017-04, Vol.21 (2), p.217-223
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Erratum to: High Resolution Melting Analysis is Very Useful to Identify BRCA1 c.4964_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood and Buccal Swab DNA
Author / Creator:Minucci, Angelo ; De Bonis, Maria ; De Paolis, Elisa ; Gentile, Leonarda ; Santonocito, Concetta ; Concolino, Paola ; Mignone, Flavio ; Capoluongo, Ettore
Publisher:Cham: Springer International Publishing
Journal title:Molecular diagnosis & therapy, 2017-04, Vol.21 (2), p.233-233
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Mannose-binding lectin polymorphisms and pulmonary outcome in premature neonates: a pilot study
Author / Creator:Capoluongo, Ettore ; Vento, Giovanni ; Rocchetti, Sandro ; Giardina, Emiliano ; Concolino, Paola ; Sinibaldi, Cecilia ; Santonocito, Concetta ; Vendettuoli, Valentina ; Tana, Milena ; Tirone, Chiara ; Zuppi, Cecilia ; Romagnoli, Costantino ; Novelli, Giuseppe ; Giardina, Bruno ; Ameglio, Franco
Publisher:Heidelberg: Springer
Journal title:Intensive care medicine, 2007-10, Vol.33 (10), p.1787-1794
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Novel human pathological mutations. Gene Symbol: CYP21A2. Disease: Non-classic 21-hydroxylase deficiency
Author / Creator:Concolino, Paola ; Santonocito, Concetta ; Minucci, Angelo ; Carrozza, Cinzia ; Zuppi, Cecilia ; Capoluongo, Ettore ; Giardina, Bruno
Publisher:Germany
Journal title:Human genetics, 2007-12, Vol.122 (5), p.559-559
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Novel human pathological mutations. Gene symbol: COL4A5. Disease: Alport syndrome
Author / Creator:Minucci, Angelo ; Capoluongo, Ettore ; Concolino, Paola ; Concetta, Santonocito ; Zuppi, Cecilia ; Giardina, Bruno
Publisher:Germany
Journal title:Human genetics, 2007-11, Vol.122 (3-4), p.414-414
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Gene symbol: CYP21A2. Disease: Adrenal hyperplasia
Author / Creator:Capoluongo, Ettore ; Concolino, Paola ; Carrozza, Cinzia ; Santonocito, Concetta ; Zuppi, Cecilia
Publisher:Germany
Journal title:Human genetics, 2008-06, Vol.123 (5), p.550-550
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ReportsFull Text
A Novel GCK Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing
Author / Creator:Concolino, Paola ; Tartaglione, Linda ; De Paolis, Elisa ; Carrozza, Cinzia ; Urbani, Andrea ; Minucci, Angelo ; Pitocco, Dario ; Santonocito, Concetta
Journal title:Genes, 2022, Vol.13 (11)
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Showing 1 to 20 of 21 results

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BRCA testing in a genomic diagnostics referral center during the COVID-19 pandemic

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BRCA testing delay during the COVID-19 pandemic: How to act?

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Tumor BRCA testing in ovarian cancer and EQA scheme: our experience of a critical evaluation

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FOXM1 expression is significantly associated with chemotherapy resistance and adverse prognosis in non-serous epithelial ovarian cancer patients

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XRCC1 Arg399Gln Gene Polymorphism and Hepatocellular Carcinoma Risk in the Italian Population

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Luteoma of Pregnancy Presenting with Severe Maternal Virilisation: A Case Report

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Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome

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A Novel GCK Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing

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A Novel IGCK/I Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing

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BRCA Mutation Status in Triple-Negative Breast Cancer Patients Treated with Neoadjuvant Chemotherapy: A Pivotal Role for Treatment Decision-Making

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Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South–Central Italian Cohort

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Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family

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Let-7a-5p, miR-100-5p, miR-101-3p, and miR-199a-3p Hyperexpression as Potential Predictive Biomarkers in Early Breast Cancer Patients

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High Resolution Melting Analysis is Very Useful to Identify Breast Cancer Type 1 Susceptibility Protein (BRCA1) c.4964_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood a...

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Erratum to: High Resolution Melting Analysis is Very Useful to Identify BRCA1 c.4964_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood and Buccal Swab DNA

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Mannose-binding lectin polymorphisms and pulmonary outcome in premature neonates: a pilot study

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Novel human pathological mutations. Gene Symbol: CYP21A2. Disease: Non-classic 21-hydroxylase deficiency

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Novel human pathological mutations. Gene symbol: COL4A5. Disease: Alport syndrome

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Gene symbol: CYP21A2. Disease: Adrenal hyperplasia

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A Novel GCK Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing

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