A Therapeutic Challenge: Liddle’s Syndrome Managed with Amiloride during Pregnancy

by Amelia Caretto, Liviana Primerano, Francesca Novara, Orsetta Zuffardi, Stefano Genovese, Maurizio Rondinelli
Published 2014-01-01

RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism

by Edoardo Errichiello, Roberto Giorda, Antonella Gambale, Achille Iolascon, Orsetta Zuffardi, Sabrina Giglio
Published 2021-01-01

Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis

by Edoardo Errichiello, Efthimios Dardiotis, Fiorenza Mannino, Juha Paloneva, Juha Paloneva, Teresa Mattina, Orsetta Zuffardi
Published 2019-07-01

Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDerm...

by Maria Clara Bonaglia, Sara Bertuzzo, Anna Maria Ciaschini, Giancarlo Discepoli, Lucia Castiglia, Romina Romaniello, Orsetta Zuffardi, Marco Fichera
Published 2020-06-01

A Data Fusion Approach to Enhance Association Study in Epilepsy.

by Simone Marini, Ivan Limongelli, Ettore Rizzo, Alberto Malovini, Edoardo Errichiello, Annalisa Vetro, Tan Da, Orsetta Zuffardi, Riccardo Bellazzi
Published 2016-01-01

A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients

by Monica Cattaneo, Lucia La Sala, Maurizio Rondinelli, Edoardo Errichiello, Orsetta Zuffardi, Annibale Alessandro Puca, Stefano Genovese, Antonio Ceriello
Published 2017-12-01

Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease?

by Flavio Rizzolio, Silvia Bione, Cinzia Sala, Carla Tribioli, Roberto Ciccone, Orsetta Zuffardi, Natascia di Iorgi, Mohamad Maghnie, Daniela Toniolo
Published 2008-01-01

Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype–Phenotype Correlation in Females

by Ilenia Maini, Stefano G. Caraffi, Francesca Peluso, Lara Valeri, Davide Nicoli, Steven Laurie, Chiara Baldo, Orsetta Zuffardi, Livia Garavelli
Published 2021-06-01

Gene Copy Number Variation in Male Breast Cancer by aCGH

by Stefania Tommasi, Anita Mangia, Giuseppina Iannelli, Patrizia Chiarappa, Elena Rossi, Laura Ottini, Marcella Mottolese, Wainer Zoli, Orsetta Zuffardi, Angelo Paradiso
Published 2010-01-01

Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs.

by Elena Rossi, Orietta Radi, Lisa De Lorenzi, Annalisa Vetro, Debora Groppetti, Enrico Bigliardi, Gaia Cecilia Luvoni, Ada Rota, Giovanna Camerino, Orsetta Zuffardi, Pietro Parma
Published 2014-01-01

Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm

by Mariangela Cisternino, Erika Della Mina, Laura Losa, Alexandra Madè, Giulia Rossetti, Lorenzo Andrea Bassi, Giovanni Pieri, Baran Bayindir, Jole Messa, Orsetta Zuffardi, Roberto Ciccone
Published 2013-01-01

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force

by Berardo Rinaldi, Alessandro Vaisfeld, Sergio Amarri, Chiara Baldo, Giuseppe Gobbi, Pamela Magini, Erto Melli, Giovanni Neri, Francesca Novara, Tommaso Pippucci, Romana Rizzi, Annarosa Soresina, Laura Zampini, Orsetta Zuffardi, Marco Crimi
Published 2017-04-01

De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s.

by Elena Rossi, Roberto Giorda, Maria Clara Bonaglia, Stefania Di Candia, Elena Grechi, Adriana Franzese, Fiorenza Soli, Francesca Rivieri, Maria Grazia Patricelli, Donatella Saccilotto, Aldo Bonfante, Sabrina Giglio, Silvana Beri, Mariano Rocchi, Orsetta Zuffardi
Published 2012-01-01

Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature

by Gabriele Trimarchi, Stefano Giuseppe Caraffi, Francesca Clementina Radio, Sabina Barresi, Gianluca Contrò, Simone Pizzi, Ilenia Maini, Marzia Pollazzon, Carlo Fusco, Silvia Sassi, Davide Nicoli, Manuela Napoli, Rosario Pascarella, Giancarlo Gargano, Orsetta Zuffardi, Marco Tartaglia, Livia Garavelli
Published 2021-06-01

PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells

by Immacolata Andolfo, Immacolata Andolfo, Gianluca De Rosa, Gianluca De Rosa, Edoardo Errichiello, Francesco Manna, Francesco Manna, Barbara Eleni Rosato, Barbara Eleni Rosato, Antonella Gambale, Antonella Gambale, Annalisa Vetro, Valeria Calcaterra, Gloria Pelizzo, Lucia De Franceschi, Orsetta Zuffardi, Roberta Russo, Roberta Russo, Achille Iolascon, Achille Iolascon
Published 2019-03-01

Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the <i>CEP85L</i> Gene: A Case Report and Refining of the Phenotypic Spectrum

by Gianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, Stefano Giuseppe Caraffi, Roberta Zuntini, Simonetta Rosato, Marzia Pollazzon, Alessandra Terracciano, Manuela Napoli, Susanna Rizzi, Grazia Gabriella Salerno, Francesca Clementina Radio, Marcello Niceta, Elena Parrini, Carlo Fusco, Giancarlo Gargano, Renzo Guerrini, Marco Tartaglia, Antonio Novelli, Orsetta Zuffardi, Livia Garavelli
Published 2021-08-01

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples

by Francesca Peluso, Stefano Giuseppe Caraffi, Roberta Zuntini, Gabriele Trimarchi, Ivan Ivanovski, Lara Valeri, Veronica Barbieri, Maria Marinelli, Alessia Pancaldi, Nives Melli, Claudia Cesario, Emanuele Agolini, Elena Cellini, Francesca Clementina Radio, Antonella Crisafi, Manuela Napoli, Renzo Guerrini, Marco Tartaglia, Antonio Novelli, Giancarlo Gargano, Orsetta Zuffardi, Livia Garavelli
Published 2021-06-01

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.

by Maria Clara Bonaglia, Roberto Giorda, Silvana Beri, Cristina De Agostini, Francesca Novara, Marco Fichera, Lucia Grillo, Ornella Galesi, Annalisa Vetro, Roberto Ciccone, Maria Teresa Bonati, Sabrina Giglio, Renzo Guerrini, Sara Osimani, Susan Marelli, Claudio Zucca, Rita Grasso, Renato Borgatti, Elisa Mani, Cristina Motta, Massimo Molteni, Corrado Romano, Donatella Greco, Santina Reitano, Anna Baroncini, Elisabetta Lapi, Antonella Cecconi, Giulia Arrigo, Maria Grazia Patricelli, Chiara Pantaleoni, Stefano D'Arrigo, Daria Riva, Francesca Sciacca, Bernardo Dalla Bernardina, Leonardo Zoccante, Francesca Darra, Cristiano Termine, Emanuela Maserati, Stefania Bigoni, Emanuela Priolo, Armand Bottani, Stefania Gimelli, Frederique Bena, Alfredo Brusco, Eleonora di Gregorio, Irene Bagnasco, Ursula Giussani, Lucio Nitsch, Pierluigi Politi, Maria Luisa Martinez-Frias, Maria Luisa Martínez-Fernández, Nieves Martínez Guardia, Anna Bremer, Britt-Marie Anderlid, Orsetta Zuffardi
Published 2011-07-01