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821
Cystic Hygroma and Monosomy X
Published 2013-04-01“…They are associated with chromosomal abnormalities and major structural anomalies. …”
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822
Near complete genome assembly of Yadong trout (Salmo trutta)
Published 2025-01-01“…The genome assembly spans 2.49 Gb, with 96.87% of the sequence anchored onto 40 chromosomes. In this assembly, a total of 12 chromosomes were assembled to a gap-free level, with 8 of them reaching the telomere-to-telomere level. …”
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823
Deep R-gene discovery in HLB resistant wild Australian limes uncovers evolutionary features and potentially important loci for hybrid breeding
Published 2025-01-01“…Domain structure analysis revealed substantial similarities in the R-genes between wild Australian limes and cultivated citrus. Investigation of chromosomal sites underlying Australian specific R genes revealed diversifying selection signatures on several chromosomal regions. …”
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824
Influence of human peripheral blood samples preprocessing on the quality of Hi-C libraries
Published 2023-03-01“…The use of the Hi-C method for the detection of chromosomal rearrangements is becoming more widespread. …”
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825
Non-Beta-Lactamase-Producing Penicillin-Resistant Enterococcus faecium in a Clinical Setting
Published 1990-01-01“…It is postulated that the mechanism of resistance is one or more chromosomally mediated alterations of penicillin-binding proteins.…”
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826
Cell Cycle Dynamics of the Nuclear Envelope
Published 2003-01-01“…Nuclear reassembly after sister chromatid separation requires a timely coordinated and dephosphorylation-dependent association of lamin-binding proteins and lamins with chromosomal proteins and targeting of membranes to specific sites on chromosomes. …”
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827
Cytogenetic Evolution of Human Ovarian Cell Lines Associated with Chemoresistance and Loss of Tumorigenicity
Published 2003-01-01“…The drug‐resistant subcell lines displayed many chromosomal abnormalities suggesting the implication of different pathways leading to a multidrug resistance phenotype. …”
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828
Preimplantation aneuploidy screening using embryonic cell-free DNA isolated from spent culture medium: a case report
Published 2025-02-01“…Abstract Background Chromosomal aberrations are frequent in human embryos and can be identified during IVF by performing preimplantation genetic testing for aneuploidies (PGT-A). …”
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829
A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH Levels
Published 2023-01-01“…Structural chromosomal aberrations like translocations have been shown to cause spermatogenic failure. …”
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830
Preaxial Polydactyly of the Foot: Variable Expression of Trisomy 13 in a Case from Central Africa
Published 2014-01-01“…Trisomy 13 is a chromosomal disorder characterized by a severe clinical picture of multiple congenital anomalies. …”
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831
TRIM28 is an essential regulator of three-dimensional chromatin state underpinning CD8+ T cell activation
Published 2025-01-01“…In the absence of Trim28, RNA Pol II and cohesin binding to these regions diminishes, and the chromosomal structure required for the active state is disrupted. …”
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832
Prenatal genetic detection in foetus with gallbladder size anomalies: cohort study and systematic review of the literature
Published 2025-12-01“…All these patients underwent chromosomal microarray and/or karyotyping, and 37 cases also underwent whole exome sequencing (WES). …”
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833
A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia
Published 2023-01-01“…There is evidence that neurodevelopmental disorders are associated with chromosomal abnormalities. Current genetic testing can clinch an exact diagnosis in 20–25% of such cases. …”
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834
Molecular characterization of a rare TP63 variant associated with split-hand/split-foot malformation 4 and incomplete penetrance: disruption of the p63-Dlx signaling pathway
Published 2025-02-01“…Karyotype analysis and chromosomal microarray analysis (CMA) were conducted to identify chromosomal abnormalities. …”
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835
Studies of biological properties of continuous suspension ВНК-21/SUSP/ARRIAH cell line
Published 2021-08-01“…When cultured in suspension, BHK-21/SUSP/ARRIAH cell subline undergoes selection towards hypoploidy: modal class is represented by cells with 41 chromosomes (32–40% of cells); the share of cells containing 40–42 chromosomes is 78–80%; the share of polyploids averages around 1%; the range of variation in the number of chromosomes is from 36 to 54. …”
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836
Erratic Male Meiosis Resulting in 2n Pollen Grain Formation in a 4x Cytotype (2n=28) of Ranunculus laetus Wall. ex Royle
Published 2012-01-01“…Univalent chromosomes failed to segregate during anaphases and produced restitution nuclei at meiosis I and II. …”
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837
Mechanisms by which Human Cells Bypass Damaged Bases during DNA Replication after Ultraviolet Irradiation
Published 2002-01-01“…Foci containing PCNA, Mre11/Rad50/Nbs1, and gamma-H2Ax can then be detected, along with chromosomal rearrangement and high frequencies of sister chromatid exchanges. …”
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838
Assessment of Cytotoxicity and Genotoxicity Potential of Effluents from Bahir Dar Tannery Using Allium cepa
Published 2022-01-01“…The results showed that cytotoxicity, genotoxicity, and chromosomal aberrations were induced by the tannery effluent. …”
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839
Exploring the maternal inheritance transmitted by the oocyte to its progeny
Published 2024-06-01“…This is what can be defined as the maternal inheritance composed of chromosomes, organelles, lipids, metabolites, proteins and RNAs. …”
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840
Short Telomere Length in Plasma of Sudanese Patients with Hepatocellular Carcinoma and Chronic Liver Diseases
Published 2024-12-01“… Background: Telomeres, a protective sequence of DNA at the end of chromosomes, are essential for the maintenance of chromosomal integrity and stability. …”
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