The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death

por Tiziano, Francesco Danilo, Palmieri, Vincenzo, Genuardi, Maurizio, Zeppilli, Paolo
Publicado 2016

High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene

por Tricarico, Rossella, Crucianelli, Francesca, Alvau, Antonio, Orlando, Claudio, Sestini, Roberta, Tonelli, Francesco, Valanzano, Rosa, Genuardi, Maurizio
Publicado 2011

A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report

por Grippaudo, Cristina, Cafiero, Concetta, D’Apolito, Isabella, Re, Agnese, Genuardi, Maurizio, Chiurazzi, Pietro, Frazier-Bowers, Sylvia A.
Publicado 2019

3q29 microduplication syndrome: New evidence for the refinement of the critical region

por Bauleo, Alessia, Pace, Vincenza, Montesanto, Alberto, De Stefano, Laura, Brando, Rossella, Puntorieri, Domenica, Cento, Luca, Genuardi, Maurizio, Falcone, Elena
Publicado 2023

Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers

por MARANGI, Giuseppe, GARCOVICH, Simone, DI SANTE, Gabriele, ORTESCHI, Daniela, FRANGELLA, Silvia, SCALDAFERRI, Franco, GENUARDI, Maurizio, PERIS, Ketty, GURRIERI, Fiorella, ZOLLINO, Marcella
Publicado 2020

A conserved motif in the disordered linker of human MLH1 is vital for DNA mismatch repair and its function is diminished by a cancer family mutation

por Wolf, Karla, Kosinski, Jan, Gibson, Toby J, Wesch, Nicole, Dötsch, Volker, Genuardi, Maurizio, Cordisco, Emanuela Lucci, Zeuzem, Stefan, Brieger, Angela, Plotz, Guido
Publicado 2023

Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid

por Sangiorgi, Eugenio, Giannuzzi, Federico, Molinario, Clelia, Rapari, Giulia, Riccio, Melania, Cuffaro, Giovanni, Castri, Federica, Benvenuto, Roberta, Genuardi, Maurizio, Massi, Daniela, Savino, Gustavo
Publicado 2023

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant

por Borghesi, Alessandro, Mencarelli, Maria Antonietta, Memo, Luigi, Ferrero, Giovanni Battista, Bartuli, Andrea, Genuardi, Maurizio, Stronati, Mauro, Villani, Alberto, Renieri, Alessandra, Corsello, Giovanni
Publicado 2017

Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families

por Tabolacci, Elisabetta, Pietrobono, Roberta, Maneri, Giulia, Remondini, Laura, Nobile, Veronica, Della Monica, Matteo, Pomponi, Maria Grazia, Genuardi, Maurizio, Neri, Giovanni, Chiurazzi, Pietro
Publicado 2020

Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report

por Novelli, Valeria, Bisignani, Antonio, Pelargonio, Gemma, Primiano, Guido, Narducci, Maria Lucia, Palmieri, Vincenzo, Tiziano, Francesco Danilo, Zeppilli, Paolo, Servidei, Serenella, Crea, Filippo, Genuardi, Maurizio
Publicado 2020

The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use

por D’ippolito, Silvia, Di Simone, Nicoletta, Orteschi, Daniela, Pomponi, Maria Grazia, Genuardi, Maurizio, Sisti, Leuconoe Grazia, Castellani, Roberta, Rossi, Esther Diana, Scambia, Giovanni, Zollino, Marcella
Publicado 2017

Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition

por Aceto, Gitana Maria, Fantini, Fabiana, De Iure, Sabrina, Di Nicola, Marta, Palka, Giandomenico, Valanzano, Rosa, Di Gregorio, Patrizia, Stigliano, Vittoria, Genuardi, Maurizio, Battista, Pasquale, Cama, Alessandro, Curia, Maria Cristina
Publicado 2015

Cost-effectiveness analysis of genetic diagnostic strategies for Lynch syndrome in Italy

por Pastorino, Roberta, Basile, Michele, Tognetto, Alessia, Di Marco, Marco, Grossi, Adriano, Lucci-Cordisco, Emanuela, Scaldaferri, Franco, De Censi, Andrea, Federici, Antonio, Villari, Paolo, Genuardi, Maurizio, Ricciardi, Walter, Boccia, Stefania
Publicado 2020

Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis

por Tabolacci, Elisabetta, Pomponi, Maria Grazia, Remondini, Laura, Pietrobono, Roberta, Orteschi, Daniela, Nobile, Veronica, Pucci, Cecilia, Musto, Elisa, Pane, Marika, Mercuri, Eugenio M., Neri, Giovanni, Genuardi, Maurizio, Chiurazzi, Pietro, Zollino, Marcella
Publicado 2021

The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice

por Forzano, Francesca, Antonova, Olga, Clarke, Angus, de Wert, Guido, Hentze, Sabine, Jamshidi, Yalda, Moreau, Yves, Perola, Markus, Prokopenko, Inga, Read, Andrew, Reymond, Alexandre, Stefansdottir, Vigdis, van El, Carla, Genuardi, Maurizio
Publicado 2021

Integrating a Comprehensive Cancer Genome Profiling into Clinical Practice: A Blueprint in an Italian Referral Center

por Nero, Camilla, Duranti, Simona, Giacomini, Flavia, Minucci, Angelo, Giacò, Luciano, Piermattei, Alessia, Genuardi, Maurizio, Pasciuto, Tina, Urbani, Andrea, Daniele, Gennaro, Lorusso, Domenica, Pignataro, Raffaele, Tortora, Giampaolo, Normanno, Nicola, Scambia, Giovanni
Publicado 2022

Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice

por Forzano, Francesca, Antonova, Olga, Clarke, Angus, de Wert, Guido, Hentze, Sabine, Jamshidi, Yalda, Moreau, Yves, Perola, Markus, Prokopenko, Inga, Read, Andrew, Reymond, Alexandre, Stefansdottir, Vigdis, van El, Carla, Genuardi, Maurizio
Publicado 2022

Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’

por Forzano, Francesca, Antonova, Olga, Clarke, Angus, de Wert, Guido, Hentze, Sabine, Jamshidi, Yalda, Moreau, Yves, Perola, Markus, Prokopenko, Inga, Read, Andrew, Reymond, Alexandre, Stefansdottir, Vigdis, van El, Carla, Genuardi, Maurizio
Publicado 2022

Correction to: Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’

por Forzano, Francesca, Antonova, Olga, Clarke, Angus, de Wert, Guido, Hentze, Sabine, Jamshidi, Yalda, Moreau, Yves, Perola, Markus, Prokopenko, Inga, Read, Andrew, Reymond, Alexandre, Stefansdottir, Vigdis, van El, Carla, Genuardi, Maurizio
Publicado 2022

Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes

por Forte, Giovanna, Grossi, Valentina, Celestini, Valentina, Lucisano, Giuseppe, Scardapane, Marco, Varvara, Dora, Patruno, Margherita, Bagnulo, Rosanna, Loconte, Daria, Giunti, Laura, Petracca, Antonio, Giglio, Sabrina, Genuardi, Maurizio, Pellegrini, Fabio, Resta, Nicoletta, Simone, Cristiano
Publicado 2014