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Year Number of Results
1978 1
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1,303 results

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Quoted phrase not found in phrase index: "Gene Rearrangement Abnormality"
Page 1
Distinguishing AML from MDS: a fixed blast percentage may no longer be optimal.
Estey E, Hasserjian RP, Döhner H. Estey E, et al. Blood. 2022 Jan 20;139(3):323-332. doi: 10.1182/blood.2021011304. Blood. 2022. PMID: 34111285 Free PMC article.
Here we cite biologic and clinical data to question this practice. Biologically, abnormalities in chromosome 3q26 and mutations in NPM1 and FLT3, regarded as AML associated, also occur in MDS. ...
Here we cite biologic and clinical data to question this practice. Biologically, abnormalities in chromosome 3q26 and mutations in NP …
Pediatric non-Down syndrome acute megakaryoblastic leukemia is characterized by distinct genomic subsets with varying outcomes.
de Rooij JD, Branstetter C, Ma J, Li Y, Walsh MP, Cheng J, Obulkasim A, Dang J, Easton J, Verboon LJ, Mulder HL, Zimmermann M, Koss C, Gupta P, Edmonson M, Rusch M, Lim JY, Reinhardt K, Pigazzi M, Song G, Yeoh AE, Shih LY, Liang DC, Halene S, Krause DS, Zhang J, Downing JR, Locatelli F, Reinhardt D, van den Heuvel-Eibrink MM, Zwaan CM, Fornerod M, Gruber TA. de Rooij JD, et al. Nat Genet. 2017 Mar;49(3):451-456. doi: 10.1038/ng.3772. Epub 2017 Jan 23. Nat Genet. 2017. PMID: 28112737 Free PMC article.
Acute megakaryoblastic leukemia (AMKL) is a subtype of acute myeloid leukemia (AML) in which cells morphologically resemble abnormal megakaryoblasts. While rare in adults, AMKL accounts for 4-15% of newly diagnosed childhood AML cases. ...Previous efforts have identified c …
Acute megakaryoblastic leukemia (AMKL) is a subtype of acute myeloid leukemia (AML) in which cells morphologically resemble abnormal …
Eosinophilic leukaemia.
Fletcher S, Bain B. Fletcher S, et al. Br Med Bull. 2007;81-82:115-27. doi: 10.1093/bmb/ldm008. Epub 2007 Apr 18. Br Med Bull. 2007. PMID: 17442690 Review.
We are increasingly able to classify clonal eosinophilias based on the underlying molecular genetic abnormalities, and prognosticate and treat patients according to this. ...
We are increasingly able to classify clonal eosinophilias based on the underlying molecular genetic abnormalities, and prognosticate …
Translocations, inversions and other chromosome rearrangements.
Morin SJ, Eccles J, Iturriaga A, Zimmerman RS. Morin SJ, et al. Fertil Steril. 2017 Jan;107(1):19-26. doi: 10.1016/j.fertnstert.2016.10.013. Epub 2016 Oct 25. Fertil Steril. 2017. PMID: 27793378 Free article. Review.
Advancements in molecular diagnostics are challenging contemporary clinicians and patients in accurately characterizing the reproductive risk of a given abnormality. Initial attempts at preimplantation genetic diagnosis were limited by the inability to simultaneously evalu …
Advancements in molecular diagnostics are challenging contemporary clinicians and patients in accurately characterizing the reproductive ris …
Chromosomal defects in multiple myeloma.
Clarke SE, Fuller KA, Erber WN. Clarke SE, et al. Blood Rev. 2024 Mar;64:101168. doi: 10.1016/j.blre.2024.101168. Epub 2024 Jan 4. Blood Rev. 2024. PMID: 38212176 Free article. Review.
Other molecular methods are increasingly being utilised to provide a genome-wide view at high resolution (e.g. single nucleotide polymorphism (SNP) microarray analysis) and these can detect abnormalities in most cases. Despite their wide application at diagnostic assessmen …
Other molecular methods are increasingly being utilised to provide a genome-wide view at high resolution (e.g. single nucleotide polymorphis …
Heavy chain disease.
Witzig TE, Wahner-Roedler DL. Witzig TE, et al. Curr Treat Options Oncol. 2002 Jun;3(3):247-54. doi: 10.1007/s11864-002-0014-3. Curr Treat Options Oncol. 2002. PMID: 12057070 Review.
Gamma- and mu-HCD are rare and essentially are found in patients with a B-cell NHL that produces an abnormal Ig heavy chain. These patients occasionally may be diagnosed with a monoclonal gammopathy of undetermined significance (MGUS). ...
Gamma- and mu-HCD are rare and essentially are found in patients with a B-cell NHL that produces an abnormal Ig heavy chain. These pa …
Integrative phosphoproteomics defines two biologically distinct groups of KMT2A rearranged acute myeloid leukaemia with different drug response phenotypes.
Casado P, Rio-Machin A, Miettinen JJ, Bewicke-Copley F, Rouault-Pierre K, Krizsan S, Parsons A, Rajeeve V, Miraki-Moud F, Taussig DC, Bödör C, Gribben J, Heckman C, Fitzgibbon J, Cutillas PR. Casado P, et al. Signal Transduct Target Ther. 2023 Feb 27;8(1):80. doi: 10.1038/s41392-022-01288-1. Signal Transduct Target Ther. 2023. PMID: 36843114 Free PMC article.
Acute myeloid leukaemia (AML) patients harbouring certain chromosome abnormalities have particularly adverse prognosis. For these patients, targeted therapies have not yet made a significant clinical impact. ...Data integration highlighted a phosphoproteomics signature tha …
Acute myeloid leukaemia (AML) patients harbouring certain chromosome abnormalities have particularly adverse prognosis. For these pat …
Lipoblastoma and lipoblastomatosis.
Bourelle S, Viehweger E, Launay F, Quilichini B, Bouvier C, Hagemeijer A, Jouve JL, Bollini G. Bourelle S, et al. J Pediatr Orthop B. 2006 Sep;15(5):356-61. doi: 10.1097/01202412-200609000-00010. J Pediatr Orthop B. 2006. PMID: 16891964
We report two cases of lipoblastoma of the buttock in a 10-month-old boy and a 20-month-old girl, the first with rearrangement of chromosome 8 and the second without cytogenetic abnormality, and one case of lipoblastomatosis of a leg in a 6-month-old boy with a norm …
We report two cases of lipoblastoma of the buttock in a 10-month-old boy and a 20-month-old girl, the first with rearrangement of chr …
High frequency of BCL2 gene rearrangement-negative follicular lymphoma in northwestern Italy.
Magnoli F, Marchiori D, Facchi S, Martin V, Campiotti L, Merli M, Sessa F, Tibiletti MG, Uccella S. Magnoli F, et al. Cancer Genet. 2023 Jun;274-275:1-9. doi: 10.1016/j.cancergen.2023.03.001. Epub 2023 Mar 6. Cancer Genet. 2023. PMID: 36917896
BCL2 rearrangements were detected in 39 cases (51,3%). Of the remaining 37, 6 showed IGH rearrangement, and were further tested: 1 showed variant BCL2 translocation, 1 had BCL6 rearrangement, and the other 4 were negative for further gene rearrangements. ...K …
BCL2 rearrangements were detected in 39 cases (51,3%). Of the remaining 37, 6 showed IGH rearrangement, and were further tested: 1 sh …
Oligonucleotide microarrays in constitutional genetic diagnosis.
Keren B, Le Caignec C. Keren B, et al. Expert Rev Mol Diagn. 2011 Jun;11(5):521-32. doi: 10.1586/erm.11.32. Expert Rev Mol Diagn. 2011. PMID: 21707460 Review.
In genetic diagnosis, the method is becoming a standard tool for investigating patients with unexplained developmental delay/intellectual disability, autism spectrum disorders and/or with multiple congenital anomalies. Oligonucleotide microarray have also been recently app …
In genetic diagnosis, the method is becoming a standard tool for investigating patients with unexplained developmental delay/intellectual di …
1,303 results