Results 241 to 250 of about 32,784 (274)

13q Deletion Syndrome Presenting with Lymphopenia Detected Through Newborn Screening for Primary Immunodeficiencies. [PDF]

Int J Mol Sci
Efimova I, Mukhina A, Markova Z, Mordanov S, Soprunova I, Pershin D, Balinova N, Petrusenko Y, Meleshko D, Zinchenko R, Shilova N, Voronin S, Shcherbina A, Kutsev S, Marakhonov A.   +14 more
europepmc   +1 more source

Breakpoint-chiasma interference in pericentric inversion heterokaryotypes. [PDF]

Genetics
Kapperud Ø.
europepmc   +1 more source

Identification of a novel PML exon 6 splice variant in atypical PML::RARα transcripts in acute promyelocytic leukemia. [PDF]

Ann Hematol
Chen H, Chen M, Yang Z, Liao S, Lin Y, Yan L.   +5 more
europepmc   +1 more source

Targeted detection of <i>Helicobacter pylori</i> resistance to clarithromycin and levofloxacin using single-cell Raman spectroscopy. [PDF]

J Med Microbiol
Wu Z, Li X, Dou X, Yang H, Zhang X, Xiong D, Gao X.   +6 more
europepmc   +1 more source

FinaleToolkit: accelerating cell-free DNA fragmentation analysis with a high-speed computational toolkit. [PDF]

Bioinform Adv
Li JW, Bandaru R, Baliga K, Liu Y.
europepmc   +1 more source

Single cell multi-omic whole genome sequencing and chromatin accessibility profiling reveals genome-epigenome coevolution in colorectal cancer

Mossner M, Colson C, Guo Q, Whiting F, Grant H, Stafford A, Kyle P, Donato-Brown D, Murphy J, Sottoriva A, Baker A, Graham TA.   +11 more
europepmc   +1 more source

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Polymorphisms in the MLL breakpoint cluster region (BCR)

Human Genetics, 2003
The MLL gene is involved in many chromosomal translocations leading to both acute myeloid and lymphoid leukemia. Some patients treated for primary malignancies with chemotherapeutic agents that inhibit DNA topoisomerase II (topo II) develop treatment-related leukemia (t-AML) caused by MLL gene rearrangement.
Deborah R, Echlin-Bell, Lydia L, Smith, Loretta, Li, Pamela L, Strissel, Reiner, Strick, Vandana, Gupta, Jhula, Banerjee, Richard, Larson, Mary V, Relling, Susan C, Raimondi, Yasuhide, Hayashi, Tomohiko, Taki, Nancy, Zeleznik-Le, Janet D, Rowley   +13 more
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MLL Genomic Breakpoint Distribution Within the Breakpoint Cluster Region in De Novo Leukemia in Children

Journal of Pediatric Hematology/Oncology, 1998
To assess translocation breakpoint distribution within the MLL genomic breakpoint cluster region (bcr), 40 cases of de novo leukemia in children were examined by karyotype and Southern blot analysis.Criteria for inclusion were karyotypic or molecular rearrangement of chromosome band 11q23. Of the 40 cases, 31 occurred in infants.
C A, Felix, M R, Hosler, D J, Slater, R I, Parker, M, Masterson, J A, Whitlock, T R, Rebbeck, P C, Nowell, B J, Lange   +8 more
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Molecular Analysis of Acute Promyelocytic Leukemia Breakpoint Cluster Region on Chromosome 17

Science, 1990
Acute promyelocytic leukemia (APL; FAB M3) is characterized by a predominance of malignant promyelocytes that carry a reciprocal translocation between the long arms of chromosomes 15 and 17, t(15;17)(q22;q11.2-q12). This translocation has become diagnostic for APL, as it is present in almost 100 percent of cases.
J, Borrow, A D, Goddard, D, Sheer, E, Solomon   +3 more
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Cloning of a breakpoint cluster region on chromosome 14 in uterine leiomyoma

Cancer Letters, 1998
A recurrent reciprocal chromosomal translocation, t(12;14)(q15;q24) is frequently observed in uterine leiomyoma. Chromosome 12 breakpoints have been shown to occur in a region of approximately 150 kb that contains the gene for a high mobility group protein (HMGI-C). The breakpoint region on chromosome 14 has not been precisely defined.
B, Bhugra, T A, Smolarek, R A, Lynch, A M, Meloni, A A, Sandberg, L, Deaven, A G, Menon   +6 more
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