Autologous bone marrow-derived mesenchymal stromal cells in the treatment of fistulising Crohn's disease

Rachele Ciccocioppo, Maria Ester Bernardo, Adele Sgarella, +11

Gut

The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications.

Giovanna Floridia, M. Piantanida, Antonella Minelli, +11

PubMed

Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2.

M. Piantanida, Elisabetta Buscarini, Claudia Dellavecchia, +4

Journal of Medical Genetics

Extensive Liver InvolvementLiver InvolvementGeneticsGenetic EpidemiologyVascular Malformation +18

The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome

Antonella Minelli, Emanuela Maserati, Elena Nicolis, +11

Leukemia

Hematological MalignancyChromatinSbds GeneChromatin StructureGenetic Disorder +10

The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman‐Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies

Emanuela Maserati, Barbara Pressato, Roberto Valli, +10

British Journal of Haematology

Constitutional trisomy 8 as first mutation in multistep carcinogenesis: Clinical, cytogenetic, and molecular data on three cases

Laura Seghezzi, Emanuela Maserati, Antonella Minelli, +9

Genes Chromosomes and Cancer

Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies

Emanuela Maserati, Antonella Minelli, Barbara Pressato, +12

Genes Chromosomes and Cancer

Inv dup (8) (p21.1 → 22.1): further case report and a new hypothesis on the origin of the chromosome abnormality

Marino Gorinati, Daniele Caufin, Antonella Minelli, +3

Clinical Genetics

D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p)

Antonella Minelli, Giovanna Floridia, Elena Rossi, +10

Human Genetics

Short ArmGenome InstabilityGenetic DisorderGeneticsMolecular Biology +8

Familial partial monosomy 7 and myelodysplasia

Antonella Minelli, Emanuela Maserati, Giovanni De Giudici, +8

Cancer Genetics and Cytogenetics

Down SyndromeGenetic DisorderHistopathologyHematologyPathology +2