Orsetta Zuffardi
Orsetta Zuffardi
Professor Emeritus of Human Genetics Department of Molecular Medicine University of Pavia Via
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Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm
L Tiepolo, O Zuffardi
Human genetics 34, 119-124, 1976
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
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
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
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
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
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
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
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
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
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
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
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, The Journal of the American Society of Hematology 121 (19), 3925-3935, 2013
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
JKJ Van Houdt, BA Nowakowska, SB Sousa, BDC Van Schaik, ...
Nature genetics 44 (4), 445-449, 2012
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
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
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, 21-51, 1980
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
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
The “Cat Eye syndrome”: Dicentric small marker chromosome probably derived from a No. 22 (Tetrasomy 22pter→ q11) associated with a characteristic phenotype: Report of 11 …
A Schinzel, W Schmid, M Fraccaro, L Tiepolo, O Zuffardi, JM Opitz, ...
Human genetics 57, 148-158, 1981
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