Orsetta Zuffardi
Orsetta Zuffardi
Professor Emeritus of Human Genetics Department of Molecular Medicine University of Pavia Via
Verified email at unipv.it
TitleCited byYear
Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm
L Tiepolo, O Zuffardi
Human genetics 34 (2), 119-124, 1976
13831976
Human bone marrow–derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not exhibit telomere maintenance mechanisms
ME Bernardo, N Zaffaroni, F Novara, AM Cometa, MA Avanzini, A Moretta, ...
Cancer research 67 (19), 9142-9149, 2007
8182007
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
B Bardoni, E Zanaria, S Guioli, G Floridia, KC Worley, G Tonini, E Ferrante, ...
Nature genetics 7 (4), 497-501, 1994
7201994
A recurrent 15q13. 3 microdeletion syndrome associated with mental retardation and seizures
AJ Sharp, HC Mefford, K Li, C Baker, C Skinner, RE Stevenson, ...
Nature genetics 40 (3), 322-328, 2008
5352008
Phosphorylation switches specific for the cardiac isoform of myosin binding protein‐C: a modulator of cardiac contraction?
M Gautel, O Zuffardi, A Freiburg, S Labeit
The EMBO journal 14 (9), 1952-1960, 1995
3941995
Olfactory receptor–gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements
S Giglio, KW Broman, N Matsumoto, V Calvari, G Gimelli, T Neumann, ...
The American Journal of Human Genetics 68 (4), 874-883, 2001
3662001
Optimization of in vitro expansion of human multipotent mesenchymal stromal cells for cell‐therapy approaches: further insights in the search for a fetal calf serum substitute
ME Bernardo, MA Avanzini, C Perotti, AM Cometa, A Moretta, E Lenta, ...
Journal of cellular physiology 211 (1), 121-130, 2007
2972007
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients
M De Gregori, R Ciccone, P Magini, T Pramparo, S Gimelli, J Messa, ...
Journal of medical genetics 44 (12), 750-762, 2007
2892007
Formation of new chromatin domains determines pathogenicity of genomic duplications
M Franke, DM Ibrahim, G Andrey, W Schwarzer, V Heinrich, R Schöpflin, ...
Nature 538 (7624), 265-269, 2016
2832016
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and …
S Bione, C Sala, C Manzini, G Arrigo, O Zuffardi, S Banfi, G Borsani, ...
The American Journal of Human Genetics 62 (3), 533-541, 1998
2811998
Disruption of the ProSAP2 gene in at (12; 22)(q24. 1; q13. 3) is associated with the 22q13. 3 deletion syndrome
MC Bonaglia, R Giorda, R Borgatti, G Felisari, C Gagliardi, A Selicorni, ...
The American Journal of Human Genetics 69 (2), 261-268, 2001
2732001
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome
F Beuschlein, M Fassnacht, G Assié, D Calebiro, CA Stratakis, A Osswald, ...
New England Journal of Medicine 370 (11), 1019-1028, 2014
2532014
The 11q; 22q translocation: a European collaborative analysis of 43 cases
M Fraccaro, J Lindsten, CE Ford, L Iselius, A Antonelli, P Aula, A Aurias, ...
Human genetics 56 (1), 21-51, 1980
2191980
Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal
C Kwok, PA Weller, S Guioli, JW Foster, S Mansour, O Zuffardi, ...
American journal of human genetics 57 (5), 1028, 1995
2151995
Clinical and molecular delineation of the 17q21. 31 microdeletion syndrome
DA Koolen, AJ Sharp, JA Hurst, HV Firth, SJL Knight, A Goldenberg, ...
Journal of medical genetics 45 (11), 710-720, 2008
2052008
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching
S Banfi, G Borsani, E Rossi, L Bernard, A Guffanti, F Rubboli, ...
Nature genetics 13 (2), 167-174, 1996
2021996
The “cat eye syndrome”: dicentric small marker chromosome probably derived from a no. 22 (tetrasomy 22pter→ q11) associated with a characteristic phenotype
A Schinzel, W Schmid, M Fraccaro, L Tiepolo, O Zuffardi, JM Opitz, ...
Human genetics 57 (2), 148-158, 1981
1991981
Heterozygous submicroscopic inversions involving olfactory receptor–gene clusters mediate the recurrent t (4; 8)(p16; p23) translocation
S Giglio, V Calvari, G Gregato, G Gimelli, S Camanini, R Giorda, ...
The American Journal of Human Genetics 71 (2), 276-285, 2002
1972002
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13. 3 deletion syndrome
MC Bonaglia, R Giorda, E Mani, G Aceti, BM Anderlid, A Baroncini, ...
Journal of medical genetics 43 (10), 822-828, 2006
1962006
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1
I Andolfo, SL Alper, L De Franceschi, C Auriemma, R Russo, L De Falco, ...
Blood 121 (19), 3925-3935, 2013
1752013
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