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
Neonatal suppression-burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy
Massimo Mastrangelo,Angela Peron,Luigina Spaccini,Francesca Novara,Barbara Scelsa,Paola Introvini,Federico Raviglione,S. Faiola,Orsetta Zuffardi +8 more
TL;DR: It is suggested that molecular analysis of STXBP1 should be considered for newborns affected by neonatal encephalopathy associated with a peculiar EEG pattern, even in the absence of neonatal epileptic seizures.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
Francesca Peluso,Stefano Giuseppe Caraffi,Gianluca Contrò,Lara Valeri,M. Napoli,Giorgia Carboni,Alka Seth,Roberta Zuntini,E. Coccia,Guja Astrea,Anne-Marie Bisgaard,Ivan Ivanovski,Silvia Maitz,Elise Brischoux-Boucher,Melissa T. Carter,Maria Lisa Dentici,Koenraad Devriendt,Melissa Bellini,Maria Cristina Digilio,Asif Doja,David A. Dyment,Stense Farholt,Carlos Ferreira,Lynne A. Wolfe,William A. Gahl,Maria Gnazzo,Himanshu Goel,Sabine Grønborg,Trine Bjørg Hammer,Lorenzo Iughetti,Tjitske Kleefstra,David A. Koolen,Francesca Romana Lepri,Gabrielle Lemire,Pedro Louro,Gary McCullagh,Simona Filomena Madeo,Annarita Milone,Roberta Milone,Jens Nielsen,Antonio Novelli,Charlotte W. Ockeloen,Rosario Pascarella,Tommaso Pippucci,Ivana Ricca,Stephen P. Robertson,Sara L. Sawyer,Marie Falkenberg Smeland,S P A Stegmann,C. T. R. M. Stumpel,Amy Goel,Juliet M. Taylor,Domenico Barbuti,Annarosa Soresina,M. F. Bedeschi,Roberta Battini,A. Cavalli,Carlo Fusco,Maria Iascone,Lionel Van Maldergem,Sunita Venkateswaran,Orsetta Zuffardi,Samantha A. Schrier Vergano,Livia Garavelli,Allan Bayat +64 more
TL;DR: This cohort enabled the prevalence of very heterogeneous neuroradiological and skeletal anomalies in KBG syndrome to be described, which will aid diagnostic accuracy, improve patient care and provide a reference for future research on the effects of ANKRD11 variants in skeletal and brain development.
Cell-Cycle phases and genetic profile of bone marrow-derived mesenchymal stromal cells expanded in vitro from healthy donors
Valentina Achille,Melissa Mantelli,Giulia Arrigo,Francesca Novara,Maria Antonietta Avanzini,Maria Ester Bernardo,Orsetta Zuffardi,Giovanni Barosi,Marco Zecca,Rita Maccario +9 more
TL;DR: Human mesenchymal stromal cells (MSCs) expanded in vitro for cell therapy approaches need to be carefully investigated for genetic stability, by employing both molecular and conventional karyotyping.
SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant.
Edoardo Errichiello,Cristina Gorgone,Loretta Giuliano,Barbara Iadarola,Emanuela Cosentino,Marzia Rossato,Nehir Edibe Kurtas,Massimo Delledonne,Teresa Mattina,Orsetta Zuffardi +9 more
TL;DR: The case strengthens the role of SOX2 as a master regulator of female gonadal differentiation, as widely demonstrated for other SOX genes related to 46, XX sex reversal, such as SOX3 and SOX9.
A Therapeutic Challenge: Liddle's Syndrome Managed with Amiloride during Pregnancy.
Amelia Caretto,Liviana Primerano,Francesca Novara,Orsetta Zuffardi,Stefano Genovese,Maurizio Rondinelli +5 more
TL;DR: The case of a LS patient, who has been followed up by a multidisciplinary teamwork during her first pregnancy, and amiloride is the most effective drug in decreasing blood pressure is reported.