Research Topics
| Emanuela MaseratiSummaryAffiliation: University of Insubria Country: Italy Publications
| Collaborators
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Detail Information
Publications
Chromosome anomalies in bone marrow as primary cause of aplastic or hypoplastic conditions and peripheral cytopenia: disorders due to secondary impairment of RUNX1 and MPL genesCristina Marletta
Biologia e Genetica, Dipartimento di Medicina Clinica e Sperimentale, Università dell lnsubria, Varese, Italy
Mol Cytogenet 5:39. 2012..abstract:..- Comparative genomic hybridization on microarray (a-CGH) in constitutional and acquired mosaicism may detect as low as 8% abnormal cellsRoberto Valli
Biologia e Genetica, Dipartimento di Scienze Biomediche Sperimentali e Cliniche, Universita dell Insubria, Varese, Italy
Mol Cytogenet 4:13. 2011.... 
The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomaliesEmanuela Maserati
Biologia e Genetica, Dipartimento di Scienze Biomediche Sperimentali e Cliniche, Università dell lnsubria, Varese, Italy
Br J Haematol 145:190-7. 2009....
Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of casesEmanuela Maserati
Sezione di Biologia e Genetica, Dipartimento di Scienze Biomediche Sperimentali e Cliniche, Universita dell Insubria, via J H Dunant 5, I 21100 Varese, Italy
Genes Chromosomes Cancer 33:93-7. 2002..A few clinical signs of CT8M were also present in these three patients. Our data indicate that the frequency of CT8M in hematological dysplastic and neoplastic disorders with trisomy 8 is approximately 15-20%...- Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomaliesEmanuela Maserati
Biologia e Genetica, Dipartimento di Scienze Biomediche Sperimentali e Cliniche, Università dell lnsubria, Varese, Italy
Genes Chromosomes Cancer 45:375-82. 2006..This conclusion supports the practice of including cytogenetic monitoring in the follow-up of SS patients... - Monitoring the isochromosome i(7)(q10) in the bone marrow of patients with Shwachman syndrome by real-time quantitative PCRGiovanni Porta
Dipartimento di Scienze Biomediche Sperimentali e Cliniche, Universita dell Insubria, Varese, Italy
J Pediatr Hematol Oncol 29:163-5. 2007..As the results obtained by RQ-PCR refer to the DNA of around 128,000 BM cells, our method proved to be feasible and more efficient in the quantitative evaluation of the i(7)(q10)-positive clone than conventional ones... - Familial myelodysplastic syndromes, monosomy 7/trisomy 8, and mutator effectsEmanuela Maserati
Sezione di Biologia e Genetica, Dipartimento di Scienze Biomediche Sperimentali e Cliniche, , Via J.H. Dunant 5, 21100 Varese, Italy
Cancer Genet Cytogenet 148:155-8. 2004..We postulate that in these families an inherited mutator effect is present and that it causes a karyotype instability, which leads to MDS/AML, often through the acquisition of monosomy 7 and trisomy 8... - Evaluating chromosomal mosaicism by array comparative genomic hybridization in hematological malignancies: the proposal of a formulaRoberto Valli
Biologia e Genetica, Dipartimento di Scienze Biomediche Sperimentali e Cliniche, Universita dell Insubria, Varese, Italy
Cancer Genet 204:216-8. 2011..Although some approximation affects both the results inferred from aCGH and FISH data, the proposed formula was successful in the three patients studied... - Patau syndrome with long survival in a case of unusual mosaic trisomy 13Giuseppina Fogu
Clinical Genetics, Department of Biomedical Sciences, University of Sassari, Viale San Pietro, 43 C, 07100 Sassari, Italy
Eur J Med Genet 51:303-14. 2008..Cytogenetic findings of the chromosomal analyses on different tissues, including skin fibroblasts from differently pigmented areas, are also reported... - MLL-MLLT10 fusion in acute monoblastic leukemia: variant complex rearrangements and 11q proximal breakpoint heterogeneityCristina Morerio
Dipartimento di Ematologia ed Oncologia Pediatrica, Istituto Giannina Gaslini, L.go G. Gaslini 5, 16148 Genova, Italy
Cancer Genet Cytogenet 152:108-12. 2004..We review the cytogenetic molecular data concerning the proximal inversion breakpoint of 11q and confirm its heterogeneity... - Familial platelet disorder with propensity to acute myelogenous leukemia: genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomaliesAntonella Minelli
Biologia Generale e Genetica Medica, , Pavia, Italy
Genes Chromosomes Cancer 40:165-71. 2004.... - Constitutional trisomy 8 mosaicism in primary myelofibrosis: relevance to clinical practice and warning for trisomy 8 studiesEmanuela Maserati
Cancer Genet Cytogenet 179:79-81. 2007 - HCMOGT-1 is a novel fusion partner to PDGFRB in juvenile myelomonocytic leukemia with t(5;17)(q33;p11.2)Cristina Morerio
Dipartimento di Ematologia ed Oncologia Pediatrica, Istituto di Ricovero e Cura a Carattere Scientifico Istituto G Gaslini, Genova, Italy
Cancer Res 64:2649-51. 2004..We show that the breakpoint of PDGFRB occurred at the same site of all previously reported PDGFRB translocations... - Clonal chromosome anomalies and propensity to myeloid malignancies in congenital amegakaryocytic thrombocytopenia (OMIM 604498)Emanuela Maserati
Haematologica 93:1271-3. 2008 - Minimal residual disease and trisomy 8Francesco Pasquali
Cancer Genet Cytogenet 140:176. 2003 - Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndromeCarla Olivieri
Biologia Generale e Genetica Medica, , Pavia, Italy
Eur J Pediatr 162:100-3. 2003..Thus the efforts to identify the genes included in a deletion are worthy as they may result in better care of the patient as, in this case, monitoring the possible development of tumours associated with NBCCS...