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Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome
In this study, we used deletions at 22q13, which represent a substantial source of human pathology (Phelan/McDermid syndrome), as a model for investigating the molecular mechanisms of terminalExpand
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Constitutional trisomy 8 as first mutation in multistep carcinogenesis: Clinical, cytogenetic, and molecular data on three cases
Three patients, with constitutional trisomy 8 mosaicism (CT8M), who developed a malignancy are reported. The diagnoses were refractory anaemia, acute lymphoblastic leukaemia, and idiopathicExpand
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  • Open Access
Myelodysplastic syndromes: the pediatric point of view.
Myelodysplastic syndromes (MDS) are clonal disorders of the multipotent hematopoietic stem cell characterized by ineffective hematopoiesis and associated with marrow hypercellularity, increasedExpand
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  • Open Access
Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15–20% of cases
The trisomy 8 found in malignancies may derive from a constitutional trisomy 8 mosaicism (CT8M), and in these cases the trisomy itself may be regarded as the first mutation in a multistepExpand
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  • Open Access
Familial partial monosomy 7 and myelodysplasia: different parental origin of the monosomy 7 suggests action of a mutator gene.
Two sisters are reported, both with a myelodysplastic syndrome (MDS) associated with partial monosomy 7. A trisomy 8 was also present in one of them, who later developed an acute myeloid leukemiaExpand
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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 syndrome
We report a child with a de novo interstitial deletion, 46,XY, int del(9)(9q22.31-q31.2). Cytogenetic and molecular analysis defined the boundaries of the lost region, of paternal origin, fromExpand
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A 45,X male with a Yp/18 translocation
SummaryA patient described as a 45,X male (Forabosco et al. 1977) was examined for the presence of Y-specific DNA by using various probes detecting restriction fragments from different regions of theExpand
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The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman‐Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies
An investigation of 22 new patients with Shwachman‐Diamond syndrome (SDS) and the follow‐up of 14 previously reported cases showed that (i) clonal chromosome changes of chromosomes 7 and 20 wereExpand
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Deletion of chromosome 20 in bone marrow of patients with Shwachman‐Diamond syndrome, loss of the EIF6 gene and benign prognosis
Bianchi, V., Robles, R., Alberio, L., Furlan, M. & Lammle, B. (2002) Von Willebrand factor-cleaving protease (ADAMTS13) in thrombocytopenic disorders: a severely deficient activity is specific forExpand
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  • Open Access
Restricted TCR repertoire and long-term persistence of donor-derived antigen-experienced CD4+ T cells in allogeneic bone marrow transplantation recipients.
We investigated the contribution of transfer of Ag-experienced donor T cells to the immune reconstitution of allogeneic bone marrow transplantation (BMT) recipients. To this purpose, we used aExpand
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