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个人简介
1968−1970: University of Cagliari. As student, she prepared her thesis on the replication of giant chromosomes of Anopheles Maculipennis.
1970: University of Cagliari. Fellowship for a research on poliovirus RNA replication (supervisor: Prof. B. Loddo)
1970−1985: University of Pavia. As fellowship and, later on, assistant professor, she started her studies on human chromosomes under the supervision of Prof. M. Fraccaro, a pioneer in the field. In these years, she was
involved in the following studies 1) karyotype/phenotype correlations with emphasis on the Prader−Willi syndrome (J Med Genet. 1977) 2) genetic basis of male infertility with the publication of the famous paper on the localization of factors controlling spermatogenesis in the non−fluorescent portion of the human Y chromosome long arm (Hum Genet. 1976) 3) X chromosome replication pattern in balanced and unbalanced rearrangements withthe finding of nullisomy for distal Xp in a male child affected by a series of X−linked diseases (Hum Genet. 1977) 4) mapping of X−linked traits through the use of X/autosome and X/Y translocations (Assignment by deletion mapping of the steroid sulfatase X−linked ichthyosis locus to Xp223. Hum Genet. 1980; X−linked dominant Aicardi's syndrome in a girl with balanced X/3 translocation. Hum Genet. 1982; The locus for torticollis, keloids, cryptorchidism and renal dysplasia is at Xq28. Hum Genet. 1982; The role of Yp in sex determination: new evidence from X/Y
translocations. Am J Med Genet. 1982).
1985−1989: University of Florence. As full professor she started a research on centromere mutations (Hum Genet.
1986; Hum Genet. 1990)
1990−: University of Pavia: As full professor, she organized her own laboratory of molecular cytogenetics. A close collaboration with Prof. G. Camerino (next door), led to discover new mechanisms involved in gonadal differentiation (Nat Genet. 1994;7:497−501).
研究兴趣
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Frontiers in Genetics (2023): 1244983-1244983
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