G
Giovanna Floridia
Researcher at Istituto Superiore di Sanità
Publications - 60
Citations - 2080
Giovanna Floridia is an academic researcher from Istituto Superiore di Sanità. The author has contributed to research in topics: External quality assessment & Y chromosome. The author has an hindex of 20, co-authored 58 publications receiving 1982 citations. Previous affiliations of Giovanna Floridia include University of Oxford & Baylor College of Medicine.
Papers
More filters
Journal ArticleDOI
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
Barbara Bardoni,Elena Zanaria,S Guioli,Giovanna Floridia,Kim C. Worley,G. Tonini,E Ferrante,Giuseppe Chiumello,E R McCabe,Marco Fraccaro +9 more
TL;DR: It is demonstrated that sex reversal results from the presence of two active copies of an Xp locus rather than from its rearrangement and that alterations at this locus constitute one of the causes of sex reversal in individuals with a normal 46,XY karyotype.
Journal ArticleDOI
A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N.
Susana Fernandes,Susana Fernandes,Silvia Paracchini,L.H. Meyer,Giovanna Floridia,Chris Tyler-Smith,Peter H. Vogt +6 more
TL;DR: It is concluded that a common variant of the human Y chromosome lacks the DAZ3/DAZ4 and BPY 2.2/BPY2.3 doublets in distal AZFc and thus that these genes cannot be required for male fertility; the gene content of the AZfc locus is likely to be genetically redundant.
Journal ArticleDOI
A dosage sensitive locus at chromosome XP21 is involved in male to female sex reversal
Barbara Bardoni,E. Zanaria,S. Guioli,Giovanna Floridia,Kim C. Worley,G. Tonini,E. Ferrante,G. Chiumello,Edward R. B. McCabe,M. Fraccaro,Orsetta Zuffardi,G. Camerino +11 more
Journal Article
The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications
Giovanna Floridia,M. Piantanida,Antonella Minelli,Claudia Dellavecchia,Clara Bonaglia,Elena Rossi,Giorgio Gimelli,Gianfranco Croci,Fabrizia Franchi,Simone Gilgenkrantz,Paola Grammatico,Leda Dalprà,Stephen A. Wood,Cesare Danesino,Orsetta Zuffardi +14 more
TL;DR: It is demonstrated that these 8p rearrangements can be either dicentric with the second centromere at the tip of the short arm or monocentric, and the analysis of DNA polymorphisms indicates that the rearrangement is consistently of maternal origin.
Journal ArticleDOI
Transmission of a Fully Functional Human Neocentromere through Three Generations
Chris Tyler-Smith,Giorgio Gimelli,Sabrina Giglio,Giovanna Floridia,Giovanna Floridia,Arpita Pandya,Gianluigi Terzoli,Peter E. Warburton,William C. Earnshaw,Orsetta Zuffardi +9 more
TL;DR: The presence of this Y chromosome in three generations demonstrates that it functions sufficiently well in mitosis for male sex determination and fertility and that neocentromeres can be transmitted normally at meiosis.