Prenatal diagnosis of HNF1b mutation allows recognition of neonatal dysglycemia

por Iafusco, Fernanda, Meola, Serena, Pecoraro, Carmine, Mazzaccara, Cristina, Iafusco, Dario, Tinto, Nadia
Publicado 2020

Age-Related Reference Intervals of the Main Biochemical and Hematological Parameters in C57BL/6J, 129SV/EV and C3H/HeJ Mouse Strains

por Mazzaccara, Cristina, Labruna, Giuseppe, Cito, Gennaro, Scarfò, Marzia, De Felice, Mario, Pastore, Lucio, Sacchetti, Lucia
Publicado 2008

NGS Analysis Revealed Digenic Heterozygous GCK and HNF1A Variants in a Child with Mild Hyperglycemia: A Case Report

por Iafusco, Fernanda, Maione, Giovanna, Mazzaccara, Cristina, Di Candia, Francesca, Mozzillo, Enza, Franzese, Adriana, Tinto, Nadia
Publicado 2021

A common polymorphism in the SCN5A gene is associated with dilated cardiomyopathy

por Mazzaccara, Cristina, Limongelli, Giuseppe, Petretta, Mario, Vastarella, Rossella, Pacileo, Giuseppe, Bonaduce, Domenico, Salvatore, Francesco, Frisso, Giulia
Publicado 2018

The Hidden Fragility in the Heart of the Athletes: A Review of Genetic Biomarkers

por Barretta, Ferdinando, Mirra, Bruno, Monda, Emanuele, Caiazza, Martina, Lombardo, Barbara, Tinto, Nadia, Scudiero, Olga, Frisso, Giulia, Mazzaccara, Cristina
Publicado 2020

Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes

por Mazzaccara, Cristina, Mirra, Bruno, Barretta, Ferdinando, Caiazza, Martina, Lombardo, Barbara, Scudiero, Olga, Tinto, Nadia, Limongelli, Giuseppe, Frisso, Giulia
Publicado 2021

Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies

por Frisso, Giulia, Detta, Nicola, Coppola, Pamela, Mazzaccara, Cristina, Pricolo, Maria Rosaria, D’Onofrio, Antonio, Limongelli, Giuseppe, Calabrò, Raffaele, Salvatore, Francesco
Publicado 2016

Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome

por Lombardo, Barbara, D'Argenio, Valeria, Monda, Emanuele, Vitale, Andrea, Caiazza, Martina, Sacchetti, Lucia, Pastore, Lucio, Limongelli, Giuseppe, Frisso, Giulia, Mazzaccara, Cristina
Publicado 2020

Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method

por Barretta, Ferdinando, Uomo, Fabiana, Caldora, Filomena, Mocerino, Rossella, Adamo, Daniela, Testa, Francesco, Simonelli, Francesca, Scudiero, Olga, Tinto, Nadia, Frisso, Giulia, Mazzaccara, Cristina
Publicado 2023

Mitochondrial Diabetes in Children: Seek and You Will Find It

por Mazzaccara, Cristina, Iafusco, Dario, Liguori, Rosario, Ferrigno, Maddalena, Galderisi, Alfonso, Vitale, Domenico, Simonelli, Francesca, Landolfo, Paolo, Prisco, Francesco, Masullo, Mariorosario, Sacchetti, Lucia
Publicado 2012

Genotype-Phenotype Correlation: A Triple DNA Mutational Event in a Boy Entering Sport Conveys an Additional Pathogenicity Risk

por Limongelli, Giuseppe, Nunziato, Marcella, Mazzaccara, Cristina, Intrieri, Mariano, D’Argenio, Valeria, Esposito, Maria Valeria, Monda, Emanuele, Di Maggio, Federica, Frisso, Giulia, Salvatore, Francesco
Publicado 2020

Physical Activity and Thrombophilic Risk in a Short Series

por Scudiero, Olga, Gentile, Luca, Ranieri, Annaluisa, Coppola, Eduardo, Di Micco, Pierpaolo, Mazzaccara, Cristina, D’alicandro, Giovanni, Leggiero, Eleonora, Frisso, Giulia, Pastore, Lucio, Lombardo, Barbara
Publicado 2020

Prevalence of hypertension and correlation with mental health in women with burning mouth syndrome: A case-control study

por Canfora, Federica, Calabria, Elena, Pecoraro, Giuseppe, Leuci, Stefania, Coppola, Noemi, Mazzaccara, Cristina, Spirito, Francesca, Aria, Massimo, D'Aniello, Luca, Mignogna, Michele Davide, Adamo, Daniela
Publicado 2023

Warfarin Anticoagulant Therapy: A Southern Italy Pharmacogenetics-Based Dosing Model

por Mazzaccara, Cristina, Conti, Valeria, Liguori, Rosario, Simeon, Vittorio, Toriello, Mario, Severini, Angelo, Perricone, Corrado, Meccariello, Alfonso, Meccariello, Pasquale, Vitale, Dino Franco, Filippelli, Amelia, Sacchetti, Lucia
Publicado 2013

Haplogroup T Is an Obesity Risk Factor: Mitochondrial DNA Haplotyping in a Morbid Obese Population from Southern Italy

por Nardelli, Carmela, Labruna, Giuseppe, Liguori, Rosario, Mazzaccara, Cristina, Ferrigno, Maddalena, Capobianco, Valentina, Pezzuti, Massimo, Castaldo, Giuseppe, Farinaro, Eduardo, Contaldo, Franco, Buono, Pasqualina, Sacchetti, Lucia, Pasanisi, Fabrizio
Publicado 2013

Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications

por Girolami, Francesca, Frisso, Giulia, Benelli, Matteo, Crotti, Lia, Iascone, Maria, Mango, Ruggiero, Mazzaccara, Cristina, Pilichou, Kalliope, Arbustini, Eloisa, Tomberli, Benedetta, Limongelli, Giuseppe, Basso, Cristina, Olivotto, Iacopo
Publicado 2018

Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes

por Mazzaccara, Cristina, Lombardi, Raffaella, Mirra, Bruno, Barretta, Ferdinando, Esposito, Maria Valeria, Uomo, Fabiana, Caiazza, Martina, Monda, Emanuele, Losi, Maria Angela, Limongelli, Giuseppe, D’Argenio, Valeria, Frisso, Giulia
Publicado 2022

Integrated Approach to Highlighting the Molecular Bases of a Deep Vein Thrombosis Event in an Elite Basketball Athlete

por Mennitti, Cristina, Miele, Ciro, Scarano, Carmela, Veneruso, Iolanda, Gentile, Alessandro, Mormile, Rosaria, Saviano, Francesca, D’Alicandro, Giovanni, Mazzaccara, Cristina, Frisso, Giulia, Capasso, Filomena, D’Argenio, Valeria, Scudiero, Olga
Publicado 2023

Salivary Complaints in Burning Mouth Syndrome: A Cross Sectional Study on 500 Patients

por Canfora, Federica, Calabria, Elena, Spagnuolo, Gianrico, Coppola, Noemi, Armogida, Niccolò Giuseppe, Mazzaccara, Cristina, Solari, Domenico, D’Aniello, Luca, Aria, Massimo, Pecoraro, Giuseppe, Mignogna, Michele Davide, Leuci, Stefania, Adamo, Daniela
Publicado 2023

Athlete’s Passport: Prevention of Infections, Inflammations, Injuries and Cardiovascular Diseases

por Mennitti, Cristina, Brancaccio, Mariarita, Gentile, Luca, Ranieri, Annaluisa, Terracciano, Daniela, Cennamo, Michele, La Civita, Evelina, Liotti, Antonietta, D’Alicandro, Giovanni, Mazzaccara, Cristina, Frisso, Giulia, Pero, Raffaela, Lombardo, Barbara, Scudiero, Olga
Publicado 2020