Advances in understanding – genetic basis of intellectual disability

por Chiurazzi, Pietro, Pirozzi, Filomena
Publicado 2016

Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?

por Tabolacci, Elisabetta, Nobile, Veronica, Pucci, Cecilia, Chiurazzi, Pietro
Publicado 2022

DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome

por Nobile, Veronica, Pucci, Cecilia, Chiurazzi, Pietro, Neri, Giovanni, Tabolacci, Elisabetta
Publicado 2021

Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report

por Miano, Maria Giuseppina, Laperuta, Carmela, Chiurazzi, Pietro, D'Urso, Michele, Ursini, Matilde Valeria
Publicado 2007

Exfoliative Cytology and Genetic Analysis for a Non-Invasive Approach to the Diagnosis of White Sponge Nevus: Case Series

por Lajolo, Carlo, Cafiero, Concetta, Stigliano, Egidio, Grippaudo, Francesca Romana, Chiurazzi, Pietro, Grippaudo, Cristina
Publicado 2023

Validating clinical characteristics of primary failure of eruption (PFE) associated with PTH1R variants

por Grippaudo, Cristina, D’Apolito, Isabella, Cafiero, Concetta, Re, Agnese, Chiurazzi, Pietro, Frazier-Bowers, Sylvia A.
Publicado 2021

Dietary supplements in neurological diseases and brain aging

por NAUREEN, ZAKIRA, DHULI, KRISTJANA, MEDORI, MARIA CHIARA, CARUSO, PAOLA, MANGANOTTI, PAOLO, CHIURAZZI, PIETRO, BERTELLI, MATTEO
Publicado 2022

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

Cardiac conduction defects

por Guerri, Giulia, Krasi, Geraldo, Precone, Vincenza, Paolacci, Stefano, Chiurazzi, Pietro, Arrigoni, Luca, Cortese, Bernardo, Dautaj, Astrit, Bertelli, Matteo
Publicado 2019

Combined use of medically-assisted reproductive techniques: a new bioethical issue

por Bertelli, Matteo, Paolacci, Stefano, Placidi, Giorgio, Scaccia, Gino, Chiurazzi, Pietro, Fulcheri, Ezio, Malacarne, Daniele, Lichterman, Boleslav, Petralia, Paolo
Publicado 2019

Genetic analysis of intellectual disability and autism

por Chiurazzi, Pietro, Kiani, Aysha Karim, Miertus, Jan, Barati, Shila, Manara, Elena, Paolacci, Stefano, Stuppia, Liborio, Gurrieri, Fiorella, Bertelli, Matteo
Publicado 2020

Role of CTCF Protein in Regulating FMR1 Locus Transcription

por Lanni, Stella, Goracci, Martina, Borrelli, Loredana, Mancano, Giorgia, Chiurazzi, Pietro, Moscato, Umberto, Ferrè, Fabrizio, Helmer-Citterich, Manuela, Tabolacci, Elisabetta, Neri, Giovanni
Publicado 2013

Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment

por Paolacci, Stefano, Kiani, Aysha Karim, Manara, Elena, Beccari, Tommaso, Ceccarini, Maria Rachele, Stuppia, Liborio, Chiurazzi, Pietro, Dalla Ragione, Laura, Bertelli, Matteo
Publicado 2020

Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy

por Aoun, Manar, Passerini, Ilaria, Chiurazzi, Pietro, Karali, Marianthi, De Rienzo, Irene, Sartor, Giovanna, Murro, Vittoria, Filimonova, Natalia, Seri, Marco, Banfi, Sandro
Publicado 2021

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

Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema

por Michelini, Sandro, Chiurazzi, Pietro, Marino, Valerio, Dell’Orco, Daniele, Manara, Elena, Baglivo, Mirko, Fiorentino, Alessandro, Maltese, Paolo Enrico, Pinelli, Michele, Herbst, Karen Louise, Dautaj, Astrit, Bertelli, Matteo
Publicado 2020

Natural small molecules as inhibitors of coronavirus lipid-dependent attachment to host cells: a possible strategy for reducing SARS-COV-2 infectivity?

por Baglivo, Mirko, Baronio, Manuela, Natalini, Giuseppe, Beccari, Tommaso, Chiurazzi, Pietro, Fulcheri, Ezio, Petralia, Paolo, Michelini, Sandro, Fiorentini, Giovanni, Miggiano, Giacinto Abele, Morresi, Assunta, Tonini, Gerolamo, Bertelli, Matteo
Publicado 2020

Polymorphisms, diet and nutrigenomics

por KIANI, AYSHA KARIM, BONETTI, GABRIELE, DONATO, KEVIN, KAFTALLI, JURGEN, HERBST, KAREN L., STUPPIA, LIBORIO, FIORETTI, FRANCESCO, NODARI, SAVINA, PERRONE, MARCO, CHIURAZZI, PIETRO, BELLINATO, FRANCESCO, GISONDI, PAOLO, BERTELLI, MATTEO
Publicado 2022

MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations

por Cristofoli, Francesca, Daja, Muharrem, Maltese, Paolo Enrico, Guerri, Giulia, Tanzi, Benedetta, Miotto, Roberta, Bonetti, Gabriele, Miertus, Jan, Chiurazzi, Pietro, Stuppia, Liborio, Gatta, Valentina, Cecchin, Stefano, Bertelli, Matteo, Marceddu, Giuseppe
Publicado 2023

MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions

por Laperuta, Carmela, Spizzichino, Letizia, D'Adamo, Pio, Monfregola, Jlenia, Maiorino, Antonio, D'Eustacchio, Angela, Ventruto, Valerio, Neri, Giovanni, D'Urso, Michele, Chiurazzi, Pietro, Ursini, Matilde Valeria, Miano, Maria Giuseppina
Publicado 2007