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pro vyhledávání: '"S W, Horsley"'
Publikováno v:
Clinical and laboratory haematology. 28(3)
Cytogenetic abnormalities are observed in approximately two-thirds of patients with acute myeloid leukemia (AML). Chromosome rearrangements are associated with specific subtypes of AML and associated prognosis. We report a patient with AML, M2, who w
Autor:
V, Zajac, T, Kirchhoff, E R, Levy, S W, Horsley, A, Miller, E, Steichen-Gersdorf, A P, Monaco
Publikováno v:
European journal of human genetics : EJHG. 5(2)
An X;17 translocation breakpoint was characterised in a 5-year-old female with hypomelanosis of Ito (HI) who exhibits characteristic hypopigmented lesions, psychomotor retardation, and choroid plexus papilloma. A YAC clone containing the locus DXS1 f
Autor:
S J, Knight, S W, Horsley, R, Regan, N M, Lawrie, E J, Maher, D L, Cardy, J, Flint, L, Kearney
Publikováno v:
European journal of human genetics : EJHG. 5(1)
We report an innovative fluorescence in situ hybridization technique which exploits a unique resource of 41 telomere-specific probes and allows the simultaneous analysis of the subtelomeric region of every chromosome for deletion, triplication and ba