Commentary: Case Report: Hyperbilirubinemia in Gilbert Syndrome Attenuates Covid-19-Induced Metabolic Disturbances

por Minucci, Angelo, Onori, Maria Elisabetta, Urbani, Andrea
Publicado 2021

Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence

por Canu, Giulia, Mazzuccato, Giorgia, Urbani, Andrea, Minucci, Angelo
Publicado 2018

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

por Minucci, Angelo, Scambia, Giovanni, Santonocito, Concetta, Concolino, Paola, Urbani, Andrea
Publicado 2020

Glucose-6-phosphate dehydrogenase deficiency and hydroxychloroquine in the COVID-19 era: a mini review

por Onori, Maria Elisabetta, Ricciardi Tenore, Claudio, Urbani, Andrea, Minucci, Angelo
Publicado 2021

A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form

por Concolino, Paola, Mello, Enrica, Minucci, Angelo, Giardina, Emiliano, Zuppi, Cecilia, Toscano, Vincenzo, Capoluongo, Ettore
Publicado 2009

Oncocytic Variant of Medullary Thyroid Carcinoma: A Rare Case of Sporadic Multifocal and Bilateral RET Wild-Type Neoplasm with Revision of the Literature

por Vinciguerra, Gian Luca Rampioni, Noccioli, Niccolò, Cippitelli, Claudia, Minucci, Angelo, Capoluongo, Ettore, Bartolazzi, Armando
Publicado 2016

Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome

por Minucci, Angelo, Concolino, Paola, De Bonis, Maria, Costella, Alessandra, Paris, Ida, Scambia, Giovanni, Capoluongo, Ettore
Publicado 2018

A Novel ATM Pathogenic Variant in an Italian Woman with Gallbladder Cancer

por De Paolis, Elisa, Urbani, Andrea, Salvatore, Lisa, Foca, Laura, Tortora, Giampaolo, Minucci, Angelo, Concolino, Paola
Publicado 2021

A commentary on the discrepancy between blood and tumour BRCA testing: An open question

por De Paolis, Elisa, Marchetti, Claudia, Concolino, Paola, Scambia, Giovanni, Urbani, Andrea, Fagotti, Anna, Minucci, Angelo
Publicado 2022

Role of SH Levels and Markers of Immune Response in the Stroke

por Musumeci, Maria, Sotgiu, Stefano, Persichilli, Silvia, Arru, Giannina, Angeletti, Silvia, Fois, Maria Laura, Minucci, Angelo, Musumeci, Salvatore
Publicado 2013

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

por Molinario, Rossana, Palumbo, Sara, Concolino, Paola, Rocchetti, Sandro, Rizza, Roberta, Scaglione, Giovanni Luca, Minucci, Angelo, Capoluongo, Ettore
Publicado 2015

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

por Concolino, Paola, Tartaglione, Linda, De Paolis, Elisa, Carrozza, Cinzia, Urbani, Andrea, Minucci, Angelo, Pitocco, Dario, Santonocito, Concetta
Publicado 2022

A rare case of juvenile hypertension: coexistence of type 2 multiple endocrine neoplasia -related bilateral pheochromocytoma and reninoma in a young patient with ACE gene polymorph...

por Paragliola, Rosa Maria, Capoluongo, Ettore, Torino, Francesco, Minucci, Angelo, Canu, Giulia, Prete, Alessandro, Pontecorvi, Alfredo, Corsello, Salvatore Maria
Publicado 2015

Basic and Preclinical Research for Personalized Medicine

por Lattanzi, Wanda, Ripoli, Cristian, Greco, Viviana, Barba, Marta, Iavarone, Federica, Minucci, Angelo, Urbani, Andrea, Grassi, Claudio, Parolini, Ornella
Publicado 2021

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

por Scaglione, Giovanni Luca, Concolino, Paola, De Bonis, Maria, De Paolis, Elisa, Minucci, Angelo, Ferrandina, Gabriella, Scambia, Giovanni, Capoluongo, Ettore
Publicado 2018

Medullary Thyroid Carcinoma With Exon 2 p.L56M RET Variant: Clinical Particular Features in Two Patients

por Paragliola, Rosa M., Lovicu, Rosa M., Papi, Giampaolo, Capoluongo, Ettore, Minucci, Angelo, Canu, Giulia, Pontecorvi, Alfredo, Corsello, Salvatore M.
Publicado 2018

The Relationship between ACE, ACTN3 and MCT1 Genetic Polymorphisms and Athletic Performance in Elite Rugby Union Players: A Preliminary Study

por Pasqualetti, Massimo, Onori, Maria Elisabetta, Canu, Giulia, Moretti, Giacomo, Minucci, Angelo, Baroni, Silvia, Mordente, Alvaro, Urbani, Andrea, Galvani, Christel
Publicado 2022

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

por Minucci, Angelo, Scambia, Giovanni, De Bonis, Maria, De Paolis, Elisa, Santonocito, Concetta, Fagotti, Anna, Capoluongo, Ettore, Concolino, Paola, Urbani, Andrea
Publicado 2020

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

por De Paolis, Elisa, Concolino, Paola, Onori, Maria Elisabetta, Santonocito, Concetta, Marchetti, Claudia, Fagotti, Anna, Scambia, Giovanni, Urbani, Andrea, Minucci, Angelo
Publicado 2021

Genetics and Sport Injuries: New Perspectives for Athletic Excellence in an Italian Court of Rugby Union Players

por Onori, Maria Elisabetta, Pasqualetti, Massimo, Moretti, Giacomo, Canu, Giulia, De Paolis, Giulio, Baroni, Silvia, Minucci, Angelo, Galvani, Christel, Urbani, Andrea
Publicado 2022