Spectrum of <i>DICER1</i> Germline Pathogenic Variants in Ovarian Sertoli–Leydig Cell Tumor

by Elisa De Paolis, Rosa Maria Paragliola, Paola Concolino
Published 2021-04-01

Genes and Pseudogenes: Complexity of the RCCX Locus and Disease

by Cinzia Carrozza, Cinzia Carrozza, Laura Foca, Elisa De Paolis, Paola Concolino
Published 2021-07-01

<i>BRCA1</i> and <i>BRCA2</i> Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Signific...

by Paola Concolino, Gianfranco Gelli, Roberta Rizza, Alessandra Costella, Giovanni Scambia, Ettore Capoluongo
Published 2019-07-01

A Novel <i>ATM</i> Pathogenic Variant in an Italian Woman with Gallbladder Cancer

by Elisa De Paolis, Andrea Urbani, Lisa Salvatore, Laura Foca, Giampaolo Tortora, Angelo Minucci, Paola Concolino
Published 2021-02-01

46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis

by Giampaolo Papi, Rosa Maria Paragliola, Paola Concolino, Carlo Di Donato, Alfredo Pontecorvi, Salvatore Maria Corsello
Published 2018-01-01

Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis

by Rossana Molinario, Sara Palumbo, Paola Concolino, Sandro Rocchetti, Roberta Rizza, Giovanni Luca Scaglione, Angelo Minucci, Ettore Capoluongo
Published 2015-01-01

Insight into a Novel p53 Single Point Mutation (G389E) by Molecular Dynamics Simulations

by Maria Cristina De Rosa, Bruno Giardina, Paola Concolino, Cristiana Carelli Alinovi, Maria Antonia Satta, Ettore Capoluongo, Davide Pirolli
Published 2010-12-01

A Whole Germline BRCA2 Gene Deletion: How to Learn from CNV In Silico Analysis

by Giovanni Luca Scaglione, Paola Concolino, Maria De Bonis, Elisa De Paolis, Angelo Minucci, Gabriella Ferrandina, Giovanni Scambia, Ettore Capoluongo
Published 2018-03-01

First Case of Mature Teratoma and Yolk Sac Testis Tumor Associated to Inherited MEN-1 Syndrome

by Sabrina Chiloiro, Ettore Domenico Capoluongo, Giovanni Schinzari, Paola Concolino, Ernesto Rossi, Maurizio Martini, Alessandra Cocomazzi, Giuseppe Grande, Domenico Milardi, Brigida Anna Maiorano, Antonella Giampietro, Guido Rindi, Alfredo Pontecorvi, Laura De Marinis, Antonio Bianchi
Published 2019-06-01

Case Report: Detection of a Novel Germline PALB2 Deletion in a Young Woman With Hereditary Breast Cancer: When the Patient's Phenotype History Doesn't Lie

by Carmine De Angelis, Carmela Nardelli, Paola Concolino, Martina Pagliuca, Mario Setaro, Elisa De Paolis, Pietro De Placido, Valeria Forestieri, Giovanni Luca Scaglione, Annalisa Ranieri, Annalisa Ranieri, Barbara Lombardo, Barbara Lombardo, Lucio Pastore, Lucio Pastore, Sabino De Placido, Ettore Capoluongo, Ettore Capoluongo
Published 2021-02-01