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Single nucleotide polymorphism rs110861313 in the intergenic region of chromosome 23 is associated with the development of leukosis in the Russian Black Pied cattle
Published 2020-01-01“…The aim of this study was to verify the association between rs110861313 in the intergenic region of bovine chromosome 23 and leukemia in the Russian Black Pied cattle. …”
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222
Chromosome-Level Genome Assembly and Annotation of the Highly Heterozygous <i>Phallus echinovolvatus</i> Provide New Insights into Its Genetics
Published 2025-01-01“…However, the available whole-genome information is lacking for this species. The chromosome-scale reference genome (Monop) and two haploid genomes (Hap1 and Hap2) of <i>P. echinovolvatus</i>, each assembled into 11 pseudochromosomes, were constructed using Illumina, PacBio-HiFi long-read sequencing, and Hi-C technology. …”
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223
Characterization of a Small Supernumerary Marker Chromosome Derived from Xq28 and 14q11.2 Detected Prenatally
Published 2018-01-01“…We present the characterization of a case with a small supernumerary marker chromosome (sSMC) detected prenatally derived from Xq28 and 14q11.2 maternal translocation. …”
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An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly
Published 2017-01-01“…Confirmation of the origin of the ring chromosome was obtained by FISH analysis which identified that the ring chromosome contained material from the deleted region of chromosome 4 and was therefore complementary to the 21.6 Mb deletion. …”
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225
A Quantitative Trait Locus on Chromosome 5p Influences D-Dimer Levels in the San Antonio Family Heart Study
Published 2010-01-01“…To our knowledge, the putative QTL on chromosome 5p is novel. The possible QTL on chromosome 2q is discussed in relation to a recent report of linkage of a related hemostatic factor to the same location. …”
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226
Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea
Published 2012-01-01“…Initially the cytogenetic analysis showed the presence of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19. Subsequent molecular cytogenetic analysis by fluorescence in situ hybridization (FISH) using whole chromosome paints, centromeric probes, as well as gene specific probes confirmed the dicentric nature of the derivative chromosome and indicated that the rearrangement involved the short arms of both of these chromosomes. …”
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227
A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype
Published 2023-01-01“…Microdeletion of the short arm of chromosome 18 is one of the most common chromosome deletion syndromes. …”
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228
Genetic parameters and genome-wide association studies including the X chromosome for various reproduction and semen quality traits in Nellore cattle
Published 2025-01-01“…When performing genomic analyses, genetic markers located on the X chromosome have been commonly ignored despite the X chromosome being one of the largest chromosomes in the cattle genome. …”
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229
Analysis of Prostate Cancer Susceptibility Variants in South African Men: Replicating Associations on Chromosomes 8q24 and 10q11
Published 2015-01-01“…Genome-wide association studies (GWAS) have implicated single nucleotide polymorphisms (SNPs) on chromosomes 2p15, 6q25, 7p15.2, 7q21, 8q24, 10q11, 10q26, 11q13, 17q12, 17q24, 19q13, and Xp11, with prostate cancer (PCa) susceptibility and/or tumour aggressiveness, in populations of African, European, and Asian ancestry. …”
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230
Near telomere-to-telomere genome assemblies of Silkie Gallus gallus and Mallard Anas platyrhynchos restored the structure of chromosomes and “missing” genes in birds
Published 2025-01-01“…The highly heterochromatic W chromosome, which serves as a refuge for ERVs, contains disproportionately long ERVs. …”
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231
Leveraging AI to automate detection and quantification of extrachromosomal DNA to decode drug responses
Published 2025-02-01Subjects: Get full text
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232
Sexual Biology, Chromosomes, Development, Life Histories and Parasites of Boreus, Espesially of B....
Published 1974-01-01Get full text
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233
Effects of Abiotic Factors on the Geographic Distribution of Body Size Variation and Chromosomal Polymorphisms in Two Neotropical Grasshopper Species (Dichroplus: Melanoplinae: Acrididae)
Published 2012-01-01“…Morphological variability increases towards the ends of the Bergmannian clines and, in D. pratensis, is related with a central-marginal distribution of chromosomal variants that influence recombination. The converse Bergmannian patterns influence sexual size dimorphism in both species but in different fashions. …”
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Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism: Clues to Diagnosis from Dysmorphic Facial Features
Published 2013-01-01“…His subtle dysmorphic facial features and mild intellectual impairment were suspected for chromosome 22q11.2 deletion syndrome. The diagnosis was confirmed by fluorescence in situ hybridization, which found microdeletion in 22q11.2 region. …”
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236
Improving prenatal diagnosis with combined karyotyping, CNV-seq and QF-PCR: a comprehensive analysis of chromosomal abnormalities in high-risk pregnancies
Published 2025-01-01Subjects: “…chromosomal abnormalities…”
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237
CAMSAP2 is required for bridging fiber assembly to ensure mitotic spindle assembly and chromosome segregation in human epithelial Caco-2 cells.
Published 2025-01-01“…The spindle in CAMSAP2 KO cells was short and displayed a reduced microtubule density, particularly around chromosomes. This indicated a loss of bridging fibers, which are known to assist alignment of sister kinetochores through interaction with kinetochore fibers. …”
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Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes
Published 2012-01-01“…We describe a familial pattern of gonosomal-autosomal translocation between the X and 18 chromosomes, balanced and unbalanced forms, in male and female siblings. …”
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