O
Orsetta Zuffardi
Researcher at University of Pavia
Publications - 396
Citations - 18979
Orsetta Zuffardi is an academic researcher from University of Pavia. The author has contributed to research in topics: Chromosomal translocation & Gene. The author has an hindex of 69, co-authored 385 publications receiving 17570 citations. Previous affiliations of Orsetta Zuffardi include University of Turin & University of Padua.
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Journal ArticleDOI
Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm.
TL;DR: It is suggested that on the distal portion of the nonfluorescent segment of the long arm of the Y, factors are located controlling spermatogenesis.
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Human bone marrow derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not exhibit telomere maintenance mechanisms.
Maria Ester Bernardo,Nadia Zaffaroni,Francesca Novara,Angela Cometa,Maria Antonietta Avanzini,Antonia Moretta,Daniela Montagna,Rita Maccario,Raffaella Villa,Maria Grazia Daidone,Orsetta Zuffardi,Franco Locatelli +11 more
TL;DR: BM-derived MSCs can be safely expanded in vitro and are not susceptible to malignant transformation, thus rendering these cells suitable for cell therapy approaches.
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Formation of new chromatin domains determines pathogenicity of genomic duplications
Martin Franke,Martin Franke,Daniel M. Ibrahim,Guillaume Andrey,Wibke Schwarzer,Verena Heinrich,Verena Heinrich,Robert Schöpflin,Katerina Kraft,Rieke Kempfer,Ivana Jerković,Ivana Jerković,Wing Lee Chan,Malte Spielmann,Bernd Timmermann,Lars Wittler,Ingo Kurth,Ingo Kurth,Paola Cambiaso,Orsetta Zuffardi,Gunnar Houge,Lindsay Lambie,Francesco Brancati,Ana Pombo,Martin Vingron,François Spitz,Stefan Mundlos +26 more
TL;DR: It is shown by chromosome conformation capture that genomic duplications in patient cells and genetically modified mice can result in the formation of new chromatin domains (neo-TADs) and that this process determines their molecular pathology.
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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
Andrew J. Sharp,Heather C Mefford,Kelly Li,Carl Baker,Cindy Skinner,Roger E. Stevenson,Richard J. Schroer,Francesca Novara,Manuela De Gregori,Roberto Ciccone,Adam Broomer,Iris Casuga,Yu Wang,Chunlin Xiao,Catalin Barbacioru,Giorgio Gimelli,Bernardo Dalla Bernardina,Claudia Torniero,Roberto Giorda,Regina Regan,Victoria Murday,Sahar Mansour,Marco Fichera,Lucia Castiglia,Pinella Failla,Mario Ventura,Zhaoshi Jiang,Gregory M. Cooper,Samantha J. L. Knight,Corrado Romano,Orsetta Zuffardi,Caifu Chen,Charles E. Schwartz,Evan E. Eichler +33 more
TL;DR: A recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms is reported, with a prevalence comparable to that of Williams, Angelman and Prader-Willi syndromes.
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Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?
TL;DR: The gene coding for cardiac MyBP‐C has been assigned to the chromosomal location 11p11.2 in humans, and is therefore in a region of physical linkage to subsets of familial hypertrophic cardiomyopathy (FHC), which makes cardiac My BP‐C a candidate gene for chromosome 11‐associated FHC.