Advances in understanding – genetic basis of intellectual disability [version 1; referees: 2 approved] by Pietro Chiurazzi, Filomena Pirozzi

Get full text

Mechanisms of the <i>FMR1</i> Repeat Instability: How Does the CGG Sequence Expand? by Elisabetta Tabolacci, Veronica Nobile, Cecilia Pucci, Pietro Chiurazzi

Get full text

DNA Methylation, Mechanisms of <i>FMR1</i> Inactivation and Therapeutic Perspectives for Fragile X Syndrome by Veronica Nobile, Cecilia Pucci, Pietro Chiurazzi, Giovanni Neri, Elisabetta Tabolacci

Get full text

Exfoliative Cytology and Genetic Analysis for a Non-Invasive Approach to the Diagnosis of White Sponge Nevus: Case Series by Carlo Lajolo, Concetta Cafiero, Egidio Stigliano, Francesca Romana Grippaudo, Pietro Chiurazzi, Cristina Grippaudo

Get full text

Validating clinical characteristics of primary failure of eruption (PFE) associated with PTH1R variants by Cristina Grippaudo, Isabella D’Apolito, Concetta Cafiero, Agnese Re, Pietro Chiurazzi, Sylvia A. Frazier-Bowers

Get full text

Transcranial direct current stimulation combined with speech therapy in Fragile X syndrome patients: a pilot study by Chiara Picciuca, Martina Assogna, Martina Assogna, Romina Esposito, Romina Esposito, Alessia D’Acunto, Matteo Ferraresi, Silvia Picazio, Ilaria Borghi, Ilaria Borghi, Alex Martino Cinnera, Alex Martino Cinnera, Sonia Bonnì, Pietro Chiurazzi, Pietro Chiurazzi, Giacomo Koch, Giacomo Koch

Get full text

A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report by Cristina Grippaudo, Concetta Cafiero, Isabella D’Apolito, Agnese Re, Maurizio Genuardi, Pietro Chiurazzi, Sylvia A. Frazier-Bowers

Get full text

Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment by Stefano Paolacci, Aysha Karim Kiani, Elena Manara, Tommaso Beccari, Maria Rachele Ceccarini, Liborio Stuppia, Pietro Chiurazzi, Laura Dalla Ragione, Matteo Bertelli

Get full text

Inherited Retinal Diseases Due to <i>RPE65</i> Variants: From Genetic Diagnostic Management to Therapy by Manar Aoun, Ilaria Passerini, Pietro Chiurazzi, Marianthi Karali, Irene De Rienzo, Giovanna Sartor, Vittoria Murro, Natalia Filimonova, Marco Seri, Sandro Banfi

Get full text

Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability by 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

Get full text

Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders by 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

Get full text

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

Get full text

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

Get full text

Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy by 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

Get full text

<i>USH2A</i>-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies by 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

Get full text

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

Get full text

Identification of ultra-rare genetic variants in pediatric acute onset neuropsychiatric syndrome (PANS) by exome and whole genome sequencing by Rosario Trifiletti, Herbert M. Lachman, Olivia Manusama, Deyou Zheng, Alberto Spalice, Pietro Chiurazzi, Allan Schornagel, Andreea M. Serban, Rogier van Wijck, Janet L. Cunningham, Sigrid Swagemakers, Peter J. van der Spek

Get full text

Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting by 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

Get full text

Two rare PROX1 variants in patients with lymphedema by Maurizio Ricci, Bruno Amato, Shila Barati, Rita Compagna, Dominika Veselenyiova, Sercan Kenanoglu, Liborio Stuppia, Tommaso Beccari, Mirko Baglivo, Danjela Kurti, Juraj Krajcovic, Roberta Serrani, Munis Dundar, Syed H. Basha, Pietro Chiurazzi, Matteo Bertelli

Get full text

Mother and Daughter Carrying of the Same Pathogenic Variant in <i>FGFR2</i> with Discordant Phenotype by 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

Get full text