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1041
Myelodysplasia and Mast Cell Leukemia with t(9;22)
Published 2017-01-01“…Furthermore, there is no consistent chromosomal abnormality identified in MCL. This is the first reported case of MCL with a (9;22) translocation. …”
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1042
Nanopore-based random genomic sampling for intraoperative molecular diagnosis
Published 2025-01-01“…Results In our retrospective cohort of 26 malignant brain tumors, iSCORED demonstrated 100% concordance in CNV detection, including chromosomal alterations and oncogene amplifications, when compared to clinically validated assays such as Next-Generation Sequencing and Chromosomal Microarray. …”
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1043
A Triad of Congenital Diaphragmatic Hernia, Meckel’s Diverticulum, and Heterotopic Pancreas
Published 2014-01-01“…It is known to be associated with extradiaphragmatic malformations, which include cardiac, renal, genital, and chromosomal abnormalities. Herein, we report a newborn born with concurrent congenital diaphragmatic hernia, Meckel’s diverticulum, and heterotopic pancreatic tissue. …”
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1044
PHOTOPROBER® Biotin: An Alternative Method for Labeling Archival DNA for Comparative Genomic Hybridization
Published 2004-01-01“…Comparative genomic hybridization (CGH) represents a powerful method for screening the entire genome of solid tumors for chromosomal imbalances. Particularly it enabled the molecular cytogenetic analysis of archival, formalin‐fixed, paraffin‐embedded (FFPE) tissue. …”
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1045
Multi-tissue characterization of the constitutive heterochromatin proteome in Drosophila identifies a link between satellite DNA organization and transposon repression.
Published 2025-01-01“…Noncoding satellite DNA repeats are abundant at the pericentromeric heterochromatin of eukaryotic chromosomes. During interphase, sequence-specific DNA-binding proteins cluster these repeats from multiple chromosomes into nuclear foci known as chromocenters. …”
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1046
Determination the site of antibiotic resistance genes in Escherichia coli isolated From Urinary Tract Infection
Published 2018-10-01“…The results showed that the antibiotic resistance genes of Amikacin, Erythromycin, Tetracyclin, and Trimethoprim were located on a plasmid, whereas Amoxicillin, Ampicillin, Chloramphenicol, Ciprofloxacin, Nalidixic acid and Penicillin were located on chromosomal DNA. The results also demonstrated an inability to produce alpha or beta-hemolysin indicating that the genes which are responsible for hemolysin production were also located on chromosomal DNA. …”
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1047
Tuber Cinereum Diverticula in a 28-Month-Old with Xq21 Deletion Syndrome
Published 2014-01-01“…Imaging revealed corpus callosum dysgenesis, forniceal hypoplasia, vermian hypoplasia, and hypothalamic dysmorphism characterized by tuber cinereum diverticula. Subsequent chromosomal microarray showed an Xq21 deletion. We present a case of Xq21 deletion syndrome with midline brain anomalies and a novel hypothalamic malformation.…”
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1048
Successful Pulmonary Endarterectomy in a Patient with Klinefelter Syndrome
Published 2012-01-01“…Klinefelter syndrome (KS) is a frequent genetic disorder due to one or more supernumerary X chromosomes. KS is associated with an increased risk for venous thromboembolic events like deep venous thrombosis and pulmonary embolism. …”
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1049
Inflammatory Bowel Disease: Progress Towards a Gene
Published 2000-01-01“…Regions of ’suggestive’ linkage on chromosomes 1, 3, 4, 6, 7, 10, 22 and X have also been reported in individual studies. …”
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1050
Phenotypic and Cytogenetic Characterization of Mesenchymal Stromal Cells in De Novo Myelodysplastic Syndromes
Published 2016-01-01“…No significant growth differences were observed between control MSCs and MDS-MSCs of all subtypes (p>0.05). 31% of MDS-MSCs had chromosomal aberrations (der(3),del(6q),del(7p), loss of chromosomes) whose BM karyotypes were normal. …”
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1051
Clastogenic Effects of Glyphosate in Bone Marrow Cells of Swiss Albino Mice
Published 2009-01-01“…Therefore, in the present study, genotoxic effects of the herbicide glyphosate were analyzed by measuring chromosomal aberrations (CAs) and micronuclei (MN) in bone marrow cells of Swiss albino mice. …”
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1052
A Case Report of Thoracic Ectopia Cordis in a Hospital in Zanjan, Iran
Published 2024-01-01“…The Z scores of the analyzed maternal venous blood chromosomes were between +6 and −6, and all chromosomes had a low risk in terms of the risk of birth defects. …”
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1053
MaterniCode: New Bioinformatic Pipeline to Detect Fetal Aneuploidies and Rearrangements Using Next-Generation Sequencing
Published 2024-01-01“…Its robust capability to effectively detect a wide range of complex chromosomal aberrations, including rare and subtle variations, positions it as a promising and valuable addition to prenatal diagnostic technologies. …”
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1054
Genetic profiling of multidrug-resistant Acinetobacter baumannii from a tertiary care center in Malaysia
Published 2025-02-01“…The antibiotic resistance genes, blaOXA-23, blaOXA-24, blaADC, blaVIM, and blaIMP, were detected in chromosomal and plasmid DNA using PCR. Insertion sequence ISAba1/blaOXA-23 gene was detected on chromosomal DNA only. …”
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1055
Biodesulfurization enhancement via targeted re-insertion of the flavin reductase dszD in the genome of the model strain Rhodococcus qingshengii IGTS8
Published 2025-01-01“…The model desulfurizing strain Rhodococcus qingshengii IGTS8 is responsible for the removal of sulfur through the 4S metabolic pathway, operating through a plasmid-borne dszABC operon, as well as the chromosomal gene for the flavin reductase, dszD. However, naturally occurring biocatalysts do not exhibit the required BDS activity to be useful for industrial applications and for this reason, genetic modifications are currently being explored. …”
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1056
Myogenesis gone awry: the role of developmental pathways in rhabdomyosarcoma
Published 2025-01-01“…There are two major sub-types of RMS: fusion-positive (FP-RMS) and fusion-negative (FN-RMS); with FP-RMS typically containing chromosomal translocations between the PAX3/7-FOXO1 loci. …”
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1057
Glycogen Storage Disease Type IX due to a Novel Mutation in PHKA2 Gene
Published 2020-01-01“…For the developmental delay, a chromosomal microrarray was ordered. The chromosomal microarray revealed the patient to have 1q21 duplication syndrome and 16p11.2 deletion syndrome. …”
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1058
Association between Genetic Instability and Helicobacter pylori Infection in Gastric Epithelial Dysplasia
Published 2012-01-01“…There were no significant differences of LINE-1 methylation level according to chromosomal/microsatellite instability and H. pylori state. …”
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1059
Complete genome sequence of Pseudomonas aeruginosa YK01, a sequence type 16 isolated from a patient with keratitis
Published 2025-01-01“…Predicted chromosomal genomic features include 5,709 CDS, 12 rRNAs, 63 tRNAs, 4 ncRNAs, and 5,788 genes. …”
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1060
Phylogenetic, Expression, and Bioinformatic Analysis of the ABC1 Gene Family in Populus trichocarpa
Published 2013-01-01“…Phylogenetic analysis grouped the genes into three subgroups. In addition, the chromosomal locations of the genes on the 19 Populus chromosomes were determined. …”
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