Orsetta Zuffardi
Orsetta Zuffardi
Professor Emeritus of Human Genetics Department of Molecular Medicine University of Pavia Via
Verified email at unipv.it
Title
Cited by
Cited by
Year
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
13951976
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
8272007
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
7251994
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
5512008
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
4011995
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
3722001
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
3182016
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
3022007
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
2922007
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
2821998
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
2772001
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
2622014
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
2211980
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
2191995
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
2072008
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
2061981
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
2041996
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
2012002
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
1982006
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
1892013
The system can't perform the operation now. Try again later.
Articles 1–20