Research Topics
Species | Angela BentivegnaSummaryAffiliation: University of Milano-Bicocca Country: Italy Publications
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Detail Information
Publications
DNA copy number alterations and PPARG amplification in a patient with multifocal bladder urothelial carcinomaDonatella Conconi
Department of Neuroscience and Biomedical Technologies, University of Milan Bicocca, Monza, Italy
BMC Res Notes 5:607. 2012..Because the clinical outcome of superficial bladder tumors is relatively unpredictable, there is a pressing need to identify markers that may predict tumor recurrence and progression and new treatment strategies...
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patientsAngela Bentivegna
Division of Medical Genetics, San Paolo School of Medicine, University of Milan, Italy
BMC Med Genet 7:77. 2006..3. To date mutations in CREBBP have been reported in 56.6% of RSTS patients and an average figure of 10% has ascribed to deletions...
Chromosomal aberrations in bladder cancer: fresh versus formalin fixed paraffin embedded tissue and targeted FISH versus wide microarray-based CGH analysisElena Panzeri
Department of Neuroscience and Biomedical Technologies, University of Milan Bicocca, Monza, Italy
PLoS ONE 6:e24237. 2011....
Investigating the role of X chromosome breakpoints in premature ovarian failureSimona Baronchelli
Department of Neuroscience and Biomedical Technologies, University of Milan Bicocca, Via Cadore 48, 20900, Monza, MB, Italy
Mol Cytogenet 5:32. 2012....
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpointsCristina Gervasini
Division of Medical Genetics, San Paolo School of Medicine, University of Milan, 20142 Milan, Italy
Genomics 90:567-73. 2007..The clinical presentation was typical in all cases, but more severe in the three patients carrying constitutional deletions, raising a question about the possible underdiagnosis of a few cases of mild RSTS...
Biological heterogeneity of putative bladder cancer stem-like cell populations from human bladder transitional cell carcinoma samplesAngela Bentivegna
Dipartimento di Neuroscienze e Tecnologie Biomediche, Universita degli Studi di Milano Bicocca, Monza, Italy
Cancer Sci 101:416-24. 2010..The data collected indicated important karyotype changes and a positive selection for hypo- or near-diploid cells, losing the complexity present in fresh tumors...
Delineating the cytogenomic and epigenomic landscapes of glioma stem cell linesSimona Baronchelli
Department of Surgery and Translational Medicine, University of Milan Bicocca, Monza, Italy
PLoS ONE 8:e57462. 2013..This new overview could have a huge importance in therapy...
A de novo supernumerary genomic discontinuous ring chromosome 21 in a child with mild intellectual disabilityNicoletta Villa
Medical Genetics Laboratory, S Gerardo Hospital, Monza, Italy
Am J Med Genet A 155:1425-31. 2011..A thorough neuropsychiatric evaluation is also provided. Only few other cases of complex discontinuous ring chromosomes have been described in detail...
Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletionsMarco Venturin
Department of Biology and Genetics, Medical Faculty, University of Milan, via Viotti 3 5, 20133, Milan, Italy
Hum Genet 115:69-80. 2004....
