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
Familial XX true hermaphroditism and the H-Y antigen.
M. Fraccaro,Luciano Tiepolo,Orsetta Zuffardi,Giuseppe Chiumello,B. di Natale,L. Gargantini,Ulrich Wolf +6 more
TL;DR: It is assumed that the underlying mutation was transmitted by the father, resulting in an autosomal dominant mode of inheritance and the nature of the mutation leading to XX sex reversal are discussed.
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15/15 translocation in Prader-Willi syndrome.
TL;DR: Two further cases (one previously published as D/D translocation) of 15/15 translocation in Prader-Willi syndrome are reported, which brings the total cases of this specific chromosomal anomaly in connection with this specific syndrome up to three or possibly four.
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Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs.
Elena Rossi,Orietta Radi,Lisa De Lorenzi,Annalisa Vetro,Debora Groppetti,Enrico Bigliardi,Gaia Cecilia Luvoni,Ada Rota,Giovanna Camerino,Orsetta Zuffardi,Pietro Parma +10 more
TL;DR: This work provides for the first time a causative mutation for the XXSR condition in the dog, and supports the idea that the dog represents a good animal model for the study ofXXSR condition caused by abnormalities in the SOX9 locus.
A new chromosome instability disorder.
Paola Maraschio,Diletta Peretti,Simonetta Lambiase,F. Lo Curto,D. Caufin,L. Gargantini,L. Minoli,Orsetta Zuffardi +7 more
TL;DR: Chromosome analysis in a 31‐year-old woman referred for primary amenorrhea, revealed a very high incidence of chromosome aberrations.
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Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood
Francesca Novara,Silvana Beri,Maria Ester Bernardo,Riccardo Bellazzi,Alberto Malovini,Roberto Ciccone,Angela Cometa,Franco Locatelli,Roberto Giorda,Orsetta Zuffardi +9 more
TL;DR: It is found that half of 9p21 deletion breakpoints were mediated by ectopic V(D)J recombination mechanisms whereas the remaining half were associated to repeated sequences, including some with potential for non-B DNA structure formation.