Paola Concolino

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 19

Top Topics

Intellectual Disability

Polycystic Kidney Disease

Top Venues

Journal of clinical medicine

International journal of molecular sciences

Current issues in molecular biology

This page only lists publications with an associated author ORCID identifier.

Publications

Paola Concolino, Elisa De Paolis, Martina Rinelli, Giulia Maneri, Francesca Brisighelli, Rita Trozzi, Simona Duranti, Luciano Giacò, Maria Piane, Alessia Preziosi, Arianna Panfili, Giovanni Scambia, Camilla Nero, Maria De Bonis, Angelo Minucci
Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay. Annals of laboratory medicine (2024)
Elisa De Paolis, Giuseppina Raspaglio, Nunzia Ciferri, Ilaria Zangrilli, Claudio Ricciardi Tenore, Andrea Urbani, Pietro Manuel Ferraro, Angelo Minucci, Paola Concolino
Single-Base Substitution Causing Dual-Exon Skipping Event in PKD2 Gene: Unusual Molecular Finding from Exome Sequencing in a Patient with Autosomal Dominant Polycystic Kidney Disease. Journal of clinical medicine 13 (16) (2024)
Paola Concolino
Challenging Molecular Diagnosis of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency: Case Series and Novel Variants of CYP21A2 Gene. Current issues in molecular biology 46 (5) (2024)
Elisa De Paolis, Giuseppina Raspaglio, Nunzia Ciferri, Ilaria Zangrilli, Claudio Ricciardi Tenore, Andrea Urbani, Pietro Manuel Ferraro, Angelo Minucci, Paola Concolino
Single-Base Substitution Causing Dual-Exon Skipping Event in PKD2 Gene: Unusual Molecular Finding from Exome Sequencing in a Patient with Autosomal Dominant Polycystic Kidney Disease. Journal of clinical medicine 13 (16) (2024)
Paola Concolino
Challenging Molecular Diagnosis of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency: Case Series and Novel Variants of CYP21A2 Gene. Current issues in molecular biology 46 (5) (2024)
Domizia Pasquetti, Annalisa Gazzellone, Salvatore Rossi, Daniela Orteschi, Federica Francesca L'Erario, Paola Concolino, Angelo Minucci, Carlo Dionisi-Vici, Maurizio Genuardi, Gabriella Silvestri, Pietro Chiurazzi
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability. International journal of molecular sciences 25 (1) (2023)
Domizia Pasquetti, Annalisa Gazzellone, Salvatore Rossi, Daniela Orteschi, Federica Francesca L'Erario, Paola Concolino, Angelo Minucci, Carlo Dionisi-Vici, Maurizio Genuardi, Gabriella Silvestri, Pietro Chiurazzi
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability. International journal of molecular sciences 25 (1) (2023)
Elisa De Paolis, Bruno Tilocca, Carla Lombardi, Maria De Bonis, Paola Concolino, Maria Elisabetta Onori, Claudio Ricciardi Tenore, Alessia Perrucci, Paola Roncada, Ettore Domenico Capoluongo, Andrea Urbani, Angelo Minucci, Concetta Santonocito
Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South-Central Italian Cohort. Genes 14 (8) (2023)
Paola Concolino, Elisa De Paolis, Simona Moffa, Maria Elisabetta Onori, Laura Soldovieri, Claudio Ricciardi Tenore, Maria De Bonis, Claudio Rabacchi, Concetta Santonocito, Martina Rinelli, Sebastiano Calandra, Andrea Giaccari, Andrea Urbani, Angelo Minucci
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. Genes 14 (6) (2023)
Paola Concolino, Elisa De Paolis, Simona Moffa, Maria Elisabetta Onori, Laura Soldovieri, Claudio Ricciardi Tenore, Maria De Bonis, Claudio Rabacchi, Concetta Santonocito, Martina Rinelli, Sebastiano Calandra, Andrea Giaccari, Andrea Urbani, Angelo Minucci
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. Genes 14 (6) (2023)
Domizia Pasquetti, Annalisa Gazzellone, Salvatore Rossi, Daniela Orteschi, Federica Francesca L'Erario, Paola Concolino, Angelo Minucci, Carlo Dionisi-Vici, Maurizio Genuardi, Gabriella Silvestri, Pietro Chiurazzi
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability. International journal of molecular sciences 25 (1) (2023)
Paola Concolino, Elisa De Paolis, Simona Moffa, Maria Elisabetta Onori, Laura Soldovieri, Claudio Ricciardi Tenore, Maria De Bonis, Claudio Rabacchi, Concetta Santonocito, Martina Rinelli, Sebastiano Calandra, Andrea Giaccari, Andrea Urbani, Angelo Minucci
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. Genes 14 (6) (2023)
Paola Concolino, Elisa De Paolis, Simona Moffa, Maria Elisabetta Onori, Laura Soldovieri, Claudio Ricciardi Tenore, Maria De Bonis, Claudio Rabacchi, Concetta Santonocito, Martina Rinelli, Sebastiano Calandra, Andrea Giaccari, Andrea Urbani, Angelo Minucci
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. Genes 14 (6) (2023)
Rosa Maria Paragliola, Alessia Perrucci, Laura Foca, Andrea Urbani, Paola Concolino
Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency. Journal of clinical medicine 11 (13) (2022)
Paola Concolino, Linda Tartaglione, Elisa De Paolis, Cinzia Carrozza, Andrea Urbani, Angelo Minucci, Dario Pitocco, Concetta Santonocito
A Novel GCK Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing. Genes 13 (11) (2022)
Gianluca Cera, Pietro Locantore, Roberto Novizio, Ettore Maggio, Vittoria Ramunno, Andrea Corsello, Caterina Policola, Paola Concolino, Rosa Maria Paragliola, Alfredo Pontecorvi
Pregnancy and Prenatal Management of Congenital Adrenal Hyperplasia. Journal of clinical medicine 11 (20) (2022)
Elisa De Paolis, Andrea Urbani, Lisa Salvatore, Laura Foca, Giampaolo Tortora, Angelo Minucci, Paola Concolino
A Novel ATM Pathogenic Variant in an Italian Woman with Gallbladder Cancer. Genes 12 (2) (2021)
Elisa De Paolis, Rosa Maria Paragliola, Paola Concolino
Spectrum of DICER1 Germline Pathogenic Variants in Ovarian Sertoli-Leydig Cell Tumor. Journal of clinical medicine 10 (9) (2021)
Paola Concolino, Gianfranco Gelli, Roberta Rizza, Alessandra Costella, Giovanni Scambia, Ettore Capoluongo
BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants. International journal of molecular sciences 20 (14) (2019)