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Short-term follow-up of a Brazilian patient with Cantu syndrome.
Am J Med Genet A. 2011 May;155A(5):1184-8. doi: 10.1002/ajmg.a.33904. Epub 2011 Apr 4.
Am J Med Genet A. 2011.
PMID: 21465652
No abstract available.
Report of a child with a complete de novo 17p duplication localized to the terminal region of the long arm of chromosome 17.
Paskulin GA, Zen PR, Rosa RF, Manique RC, Cotter PD.
Paskulin GA, et al.
Am J Med Genet A. 2007 Jun 15;143A(12):1366-70. doi: 10.1002/ajmg.a.31785.
Am J Med Genet A. 2007.
PMID: 17506105
In conclusion, this cytogenetic anomaly seems to represent a severe malformation entity with a poor prognosis and a recognizable clinical pattern that justifies the use of the term "17p trisomy syndrome" suggested previously by other authors....
In conclusion, this cytogenetic anomaly seems to represent a severe malformation entity with a poor prognosis and a recognizable clinical pa …
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Pre-clinical evaluation of probes to detect t(8;21) AML minimal residual disease by fluorescence in situ hybridization.
Paskulin GA, Philips G, Morgan R, Sandberg A, Richkind K, Borovik C, McGavran L, Rabinovich N, Dietz-Band J, Erickson P, Drabkin H, Varella-Garcia M.
Paskulin GA, et al.
Genes Chromosomes Cancer. 1998 Feb;21(2):144-51.
Genes Chromosomes Cancer. 1998.
PMID: 9491326
The 8;21 translocation in acute myeloid leukemia (AML) results in a consistent fusion transcript, AML1/ETO. Long-term clinical remission occurs in some patients despite incomplete eradication of AML1/ETO as demonstrated by RT-PCR, thus limiting the usefulness of this assay …
The 8;21 translocation in acute myeloid leukemia (AML) results in a consistent fusion transcript, AML1/ETO. Long-term clinical remiss …
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