Orsetta Zuffardi
University of Pavia
400 Papers
4.7K Citations
Orsetta Zuffardi is an academic researcher from University of Pavia. The author has contributed to research in topics: Biology & Chromosomal translocation. The author has an hindex of 69, co-authored 385 publications. Previous affiliations of Orsetta Zuffardi include University of Turin & University of Padua.
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Papers
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation.
Tiziano Pramparo,Manuela De Gregori,Stefania Gimelli,Roberto Ciccone,Domenico Frondizi,Thomas Liehr,Simona Pellacani,Gabriele Masi,Paola Brovedani,Orsetta Zuffardi,Renzo Guerrini +10 more
TL;DR: The findings suggest that in both seemingly de novo deletions and duplications, the parent transmitting the imbalance should be investigated for possible balanced rearrangements, and reinforces previous evidence that chromosome imbalances, and thus gene dosage effects, may be at the basis of some psychiatric disorders.
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MECP2 duplication phenotype in symptomatic females: report of three further cases
Francesca Novara,Alessandro Simonati,Federico Sicca,Roberta Battini,Simona Fiori,Annarita Contaldo,Lucia Criscuolo,Orsetta Zuffardi,Roberto Ciccone +8 more
TL;DR: Mild to moderate cognitive impairment together with learning difficulties and speech delay were evident in each of the patients and early inadequate behavioral patterns followed by persistent difficulties in the social and communication domains, as well as the occurrence of mild psychiatric disturbances, are common features of these three patients.
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Correlation between genomic alterations assessed by array comparative genomic hybridization, prognostically informative histologic subtype, stage, and patient survival in gastric cancer
TL;DR: High-resolution genome-wide array comparative genomic hybridization of gastric cancer contributes prognostically relevant information providing a genetic background for histologic grading, and 3 tumor clusters of increasing genomic lesion severity were constructed.
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De novo unbalanced translocations have a complex history/aetiology.
Maria Clara Bonaglia,Nehir Edibe Kurtas,Edoardo Errichiello,Sara Bertuzzo,Silvana Beri,Mana M. Mehrjouy,Aldesia Provenzano,Debora Vergani,Vanna Pecile,Francesca Novara,Paolo Reho,Marilena Carmela Di Giacomo,Giancarlo Discepoli,Roberto Giorda,Micheala A. Aldred,Cíntia Barros Santos-Rebouças,Andressa Pereira Gonçalves,Diane N Abuelo,Sabrina Giglio,Ivana Ricca,Fabrizia Franchi,Philippos C. Patsalis,Carolina Sismani,María Ángeles Mori,Julián Nevado,Niels Tommerup,Orsetta Zuffardi +26 more
TL;DR: The findings indicate that the primary driver for the occurrence of the de novo unbalanced translocations is a maternal meiotic non-disjunction, followed by partial trisomy rescue of the supernumerary chromosome present in the trisomic zygote.
MEF2C deletions and mutations versus duplications: a clinical comparison.
Francesca Novara,Ambra Rizzo,Gloria Bedini,Vita Girgenti,Silvia Esposito,Chiara Pantaleoni,Roberto Ciccone,Francesca L. Sciacca,Valentina Achille,Erika Della Mina,Simone Gana,Orsetta Zuffardi,Margherita Estienne +12 more
TL;DR: Two further patients with 5q14.3 duplications including MEF2C suggest the pathogenic effect of the MEf2C duplication although other duplicated genes also brain expressed might contribute to the clinical features.
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