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Utility of breakpoint-specific nested polymerase chain reaction for the diagnosis of Emanuel syndrome.
Pediatr Int
December 2021
Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Aichi, Japan.
Targeted therapy and disease monitoring in CNTRL-FGFR1-driven leukaemia.
Pediatr Blood Cancer
October 2019
Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Australia.
We report two patients with leukaemia driven by the rare CNTRL-FGFR1 fusion oncogene. This fusion arises from a t(8;9)(p12;q33) translocation, and is a rare driver of biphenotypic leukaemia in children. We used RNA sequencing to report novel features of expressed CNTRL-FGFR1, including CNTRL-FGFR1 fusion alternative splicing.
View Article and Find Full Text PDFCD200/BTLA deletions in pediatric precursor B-cell acute lymphoblastic leukemia treated according to the EORTC-CLG 58951 protocol.
Haematologica
October 2015
Department of Pediatric Hematology-Oncology and Stem Cell Transplantation, Ghent University Hospital, Belgium
DNA copy number analysis has been instrumental for the identification of genetic alterations in B-cell precursor acute lymphoblastic leukemia. Notably, some of these genetic defects have been associated with poor treatment outcome and might be relevant for future risk stratification. In this study, we characterized recurrent deletions of CD200 and BTLA genes, mediated by recombination-activating genes, and used breakpoint-specific polymerase chain reaction assay to screen a cohort of 1154 cases of B-cell precursor acute lymphoblastic leukemia uniformly treated according to the EORTC-CLG 58951 protocol.
View Article and Find Full Text PDFIntroduction: Chronic myeloid leukemia (CML) is characterized by a chromosomal translocation t(9; 22) resulting in the chimeric ber-abl oncogene that encode for the p210 protein which has an increased tyrosine kinase activity. The fusion part of this protein contains a novel aminoacid sequence. If peptides derived from this leukemia-specific part of p210 are expressed in the context of HLA molecules on malignant cells this may elicit immunologically specific responses.
View Article and Find Full Text PDFPatient-specific probes for preimplantation genetic diagnosis of structural and numerical aberrations in interphase cells.
J Assist Reprod Genet
April 1999
Life Sciences Division, University of California, E. O. Lawrence Berkeley National Laboratory 94720, USA.
Purpose: Our purpose was to evaluate the utility of translocation breakpoint-spanning DNA probes for prenatal genetic diagnosis of structural and numerical chromosome aberrations in interphase cells.
Methods: Breakpoint-spanning translocation probes were isolated from large insert DNA libraries and labeled so that the breakpoint regions were stained in different colors. Hybridization conditions were optimized using blastomeres biopsied from donated embryos.
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