Pietro Chiurazzi

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 24

Top Topics

Intellectual Disability

Dna Methylation

Polycystic Kidney Disease

Top Venues

International journal of molecular sciences

Bioengineering (Basel, Switzerland)

Diagnostics (Basel, Switzerland)

This page only lists publications with an associated author ORCID identifier.

Publications

Martina Grandi, Chiara Galber, Cristina Gatto, Veronica Nobile, Cecilia Pucci, Ida Schaldemose Nielsen, Francesco Boldrin, Giovanni Neri, Pietro Chiurazzi, Giancarlo Solaini, Alessandra Baracca, Valentina Giorgio, Elisabetta Tabolacci
Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders. International journal of molecular sciences 25 (6) (2024)
Martina Grandi, Chiara Galber, Cristina Gatto, Veronica Nobile, Cecilia Pucci, Ida Schaldemose Nielsen, Francesco Boldrin, Giovanni Neri, Pietro Chiurazzi, Giancarlo Solaini, Alessandra Baracca, Valentina Giorgio, Elisabetta Tabolacci
Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders. International journal of molecular sciences 25 (6) (2024)
Martina Grandi, Chiara Galber, Cristina Gatto, Veronica Nobile, Cecilia Pucci, Ida Schaldemose Nielsen, Francesco Boldrin, Giovanni Neri, Pietro Chiurazzi, Giancarlo Solaini, Alessandra Baracca, Valentina Giorgio, Elisabetta Tabolacci
Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders. International journal of molecular sciences 25 (6) (2024)
Domizia Pasquetti, Annalisa Gazzellone, Salvatore Rossi, Daniela Orteschi, Federica Francesca L'Erario, Paola Concolino, Angelo Minucci, Carlo Dionisi-Vici, Maurizio Genuardi, Gabriella Silvestri, Pietro Chiurazzi
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability. International journal of molecular sciences 25 (1) (2023)
Giorgio Placidi, Paolo Enrico Maltese, Maria Cristina Savastano, Elena D'Agostino, Valentina Cestrone, Matteo Bertelli, Pietro Chiurazzi, Martina Maceroni, Angelo Maria Minnella, Lucia Ziccardi, Vincenzo Parisi, Stanislao Rizzo, Benedetto Falsini
Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy. Diagnostics (Basel, Switzerland) 13 (5) (2023)
Domizia Pasquetti, Annalisa Gazzellone, Salvatore Rossi, Daniela Orteschi, Federica Francesca L'Erario, Paola Concolino, Angelo Minucci, Carlo Dionisi-Vici, Maurizio Genuardi, Gabriella Silvestri, Pietro Chiurazzi
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability. International journal of molecular sciences 25 (1) (2023)
Carlo Lajolo, Concetta Cafiero, Egidio Stigliano, Francesca Romana Grippaudo, Pietro Chiurazzi, Cristina Grippaudo
Exfoliative Cytology and Genetic Analysis for a Non-Invasive Approach to the Diagnosis of White Sponge Nevus: Case Series. Bioengineering (Basel, Switzerland) 10 (2) (2023)
Carlo Lajolo, Concetta Cafiero, Egidio Stigliano, Francesca Romana Grippaudo, Pietro Chiurazzi, Cristina Grippaudo
Exfoliative Cytology and Genetic Analysis for a Non-Invasive Approach to the Diagnosis of White Sponge Nevus: Case Series. Bioengineering (Basel, Switzerland) 10 (2) (2023)
Francesca Cristofoli, Muharrem Daja, Paolo Enrico Maltese, Giulia Guerri, Benedetta Tanzi, Roberta Miotto, Gabriele Bonetti, Jan Miertus, Pietro Chiurazzi, Liborio Stuppia, Valentina Gatta, Stefano Cecchin, Matteo Bertelli, Giuseppe Marceddu
MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations. Genes 14 (8) (2023)
Giorgio Placidi, Paolo Enrico Maltese, Maria Cristina Savastano, Elena D'Agostino, Valentina Cestrone, Matteo Bertelli, Pietro Chiurazzi, Martina Maceroni, Angelo Maria Minnella, Lucia Ziccardi, Vincenzo Parisi, Stanislao Rizzo, Benedetto Falsini
Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy. Diagnostics (Basel, Switzerland) 13 (5) (2023)
Carlo Lajolo, Concetta Cafiero, Egidio Stigliano, Francesca Romana Grippaudo, Pietro Chiurazzi, Cristina Grippaudo
Exfoliative Cytology and Genetic Analysis for a Non-Invasive Approach to the Diagnosis of White Sponge Nevus: Case Series. Bioengineering (Basel, Switzerland) 10 (2) (2023)
Domizia Pasquetti, Annalisa Gazzellone, Salvatore Rossi, Daniela Orteschi, Federica Francesca L'Erario, Paola Concolino, Angelo Minucci, Carlo Dionisi-Vici, Maurizio Genuardi, Gabriella Silvestri, Pietro Chiurazzi
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability. International journal of molecular sciences 25 (1) (2023)
Filomena Lo Vecchio, Elisabetta Tabolacci, Veronica Nobile, Maria Grazia Pomponi, Roberta Pietrobono, Giovanni Neri, Simona Amenta, Ettore Candida, Cristina Grippaudo, Ettore Lo Cascio, Alessia Vita, Federica Tiberio, Alessandro Arcovito, Wanda Lattanzi, Maurizio Genuardi, Pietro Chiurazzi
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype. Genes 13 (7) (2022)
Elisabetta Tabolacci, Veronica Nobile, Cecilia Pucci, Pietro Chiurazzi
Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand? International journal of molecular sciences 23 (10) (2022)
Marcello Scala, Masashi Nishikawa, Hidenori Ito, Hidenori Tabata, Tayyaba Khan, Andrea Accogli, Laura Davids, Anna Ruiz, Pietro Chiurazzi, Gabriella Cericola, Björn Schulte, Kristin G Monaghan, Amber Begtrup, Annalaura Torella, Michele Pinelli, Anne Sophie Denommé-Pichon, Antonio Vitobello, Caroline Racine, Maria Margherita Mancardi, Courtney Kiss, Andrea Guerin, Wendy Wu, Elisabeth Gabau Vila, Bryan C Mak, Julian A Martinez-Agosto, Michael B Gorin, Bugrahan Duz, Yavuz Bayram, Claudia M B Carvalho, Jaime E Vengoechea, David Chitayat, Tiong Yang Tan, Bert Callewaert, Bernd Kruse, Lynne M Bird, Laurence Faivre, Marcella Zollino, Saskia Biskup, null null, null null, Pasquale Striano, Vincenzo Nigro, Mariasavina Severino, Valeria Capra, Gregory Costain, Caroline Racine
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes. Brain : a journal of neurology 145 (9) (2022)
Manar Aoun, Ilaria Passerini, Pietro Chiurazzi, Marianthi Karali, Irene De Rienzo, Giovanna Sartor, Vittoria Murro, Natalia Filimonova, Marco Seri, Francesca Simonelli
Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy. International journal of molecular sciences 22 (13) (2021)
Francesca Cristofoli, Elisa Sorrentino, Giulia Guerri, Roberta Miotto, Roberta Romanelli, Alessandra Zulian, Stefano Cecchin, Stefano Paolacci, Jan Miertus, Matteo Bertelli, Paolo Enrico Maltese, Pietro Chiurazzi, Liborio Stuppia, Marco Castori, Giuseppe Marceddu
Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting. Genes 12 (12) (2021)
Elisabetta Tabolacci, Maria Grazia Pomponi, Laura Remondini, Roberta Pietrobono, Daniela Orteschi, Veronica Nobile, Cecilia Pucci, Elisa Musto, Marika Pane, Eugenio M Mercuri, Giovanni Neri, Maurizio Genuardi, Pietro Chiurazzi, Marcella Zollino
Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis. Genes 12 (12) (2021)
Alessandro Vaisfeld, Giorgia Bruno, Martina Petracca, Anna Rita Bentivoglio, Serenella Servidei, Maria Gabriella Vita, Francesco Bove, Giulia Straccia, Clemente Dato, Giuseppe Di Iorio, Simone Sampaolo, Silvio Peluso, Anna De Rosa, Giuseppe De Michele, Melissa Barghigiani, Daniele Galatolo, Alessandra Tessa, Filippo Santorelli, Pietro Chiurazzi, Mariarosa Anna Beatrice Melone
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement. Genes 12 (3) (2021)
Cristina Grippaudo, Isabella D'Apolito, Concetta Cafiero, Agnese Re, Pietro Chiurazzi, Sylvia A Frazier-Bowers
Validating clinical characteristic of primary failure of eruption (PFE) associated with PTH1R variants. Progress in orthodontics 22 (1) (2021)
Benedetto Falsini, Giorgio Placidi, Elisa De Siena, Maria Cristina Savastano, Angelo Maria Minnella, Martina Maceroni, Giulia Midena, Lucia Ziccardi, Vincenzo Parisi, Matteo Bertelli, Paolo Enrico Maltese, Pietro Chiurazzi, Stanislao Rizzo
USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies. Diagnostics (Basel, Switzerland) 11 (2) (2021)
Veronica Nobile, Cecilia Pucci, Pietro Chiurazzi, Giovanni Neri, Elisabetta Tabolacci
DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome. Biomolecules 11 (2) (2021)
Sandro Michelini, Pietro Chiurazzi, Valerio Marino, Daniele Dell'Orco, Elena Manara, Mirko Baglivo, Alessandro Fiorentino, Paolo Enrico Maltese, Michele Pinelli, Karen Louise Herbst, Astrit Dautaj, Matteo Bertelli
Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema. International journal of molecular sciences 21 (17) (2020)
Massimo Santoro, Alessia Perna, Piergiorgio La Rosa, Sara Petrillo, Fiorella Piemonte, Salvatore Rossi, Vittorio Riso, Tommaso Filippo Nicoletti, Anna Modoni, Maria Grazia Pomponi, Pietro Chiurazzi, Gabriella Silvestri
Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia. Neurogenetics 21 (4) (2020)