Výsledky vyhledávání - "Bommina Celso"

Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: A comparison with previously described cases

Autor: Valeria Politi, Danila Sollima, Barbara Sinigaglia, Sergio Tempesta, Loredana Santarini, Luciano Bovicelli, Marina Stefani, Sara Ghezzo, Roberta Cernetti, Orsetta Zuffardi, Antonino Restuccia, Bommina Celso, Roberto Ciccone, Federica Balducci, Cinzia Marzocchi

Publikováno v: European Journal of Medical Genetics. 51:639-645

We report on a child with mild mental retardation, hypotelorism, blepharophimosis, face slight asymmetry and partial hypoplasia of corpus callosum, with an interstitial deletion of a chromosome 15. The deletion was molecularly characterized by array-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcae2069704eaa9b79a6eafc96726928
https://doi.org/10.1016/j.ejmg.2008.07.010

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Molecular and cytogenetic studies of a patient with Philadelphia-negative, BCR-positive chronic myeloid leukemia and t(12;12)(q13;p12)

Autor: Alfonso Zaccaria, Nicoletta Testoni, Angela Tassinari, Bommina Celso, Beverly S. Emanuel, Marcia Budarf, Giuseppe Saglio, Angelo Guerrasio, Cosimo Barletta, Cesare Peschle, Sante Tura

Publikováno v: Genes, chromosomescancer. 1(4)

A patient with Philadelphia (Ph1)-negative, breakpoint cluster region (bcr)-positive chronic myeloid leukemia (CML) is reported. Pulsed-field gel electrophoretic analysis demonstrated the comigration of both ABL and BCR sequences on the same BssHII a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e8c0eea5480e1ebb97df1fe0683c194
https://pubmed.ncbi.nlm.nih.gov/2278960

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