Advances in understanding – genetic basis of intellectual disability [version 1; referees: 2 approved]

by Pietro Chiurazzi, Filomena Pirozzi
Published 2016-04-01

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
Published 2021-02-01

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
Published 2019-11-01

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
Published 2021-07-01

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
Published 2020-07-01

Role of CTCF protein in regulating FMR1 locus transcription.

by Stella Lanni, Martina Goracci, Loredana Borrelli, Giorgia Mancano, Pietro Chiurazzi, Umberto Moscato, Fabrizio Ferrè, Manuela Helmer-Citterich, Elisabetta Tabolacci, Giovanni Neri
Published 2013-01-01

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

by Elisabetta Tabolacci, Roberta Pietrobono, Giulia Maneri, Laura Remondini, Veronica Nobile, Matteo Della Monica, Maria Grazia Pomponi, Maurizio Genuardi, Giovanni Neri, Pietro Chiurazzi
Published 2020-02-01

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
Published 2020-08-01

<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
Published 2021-02-01

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
Published 2020-10-01

Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement

by 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
Published 2021-02-01

Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, <i>ATM, BAP1,</i> and <i>POT1</i>

by Lorenza Pastorino, Virginia Andreotti, Bruna Dalmasso, Irene Vanni, Giulia Ciccarese, Mario Mandalà, Giuseppe Spadola, Maria Antonietta Pizzichetta, Giovanni Ponti, Maria Grazia Tibiletti, Elena Sala, Maurizio Genuardi, Pietro Chiurazzi, Gabriele Maccanti, Siranoush Manoukian, Serena Sestini, Rita Danesi, Valentina Zampiga, Roberta La Starza, Ignazio Stanganelli, Alberto Ballestrero, Luca Mastracci, Federica Grillo, Stefania Sciallero, Federica Cecchi, Enrica Teresa Tanda, Francesco Spagnolo, Paola Queirolo, Italian Melanoma Intergroup (IMI), Alisa M. Goldstein, William Bruno, Paola Ghiorzo
Published 2020-04-01