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921
POLYMORPHISM AND INTERSPECIFIC VARIABILITY OF CYTOCHROME OXYDASE SUBUNIT I (COI) GENE NUCLEOTIDE SEQUENCE IN SIBLING SPECIES of A AND B Anopheles messeae AND An. beklemishevi (DIPT...
Published 2014-12-01“…It is concludedthat the COI polymorphism ofthe A andB Anopheles messeae species is common for them, as well as the chromosomal inversion polymorphism. It arose long before their divergence. …”
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922
A Pleural Solitary Fibrous Tumor, Multiple Gastrointestinal Stromal Tumors, Moyamoya Disease, and Hyperparathyroidism in a Patient Associated with NF1
Published 2015-01-01“…Neurofibromatosis type 1 (NF1), also called von Recklinghausen’s disease, is a multisystemic disease caused by an alteration of the NF1 gene, a tumor suppressor located on the long arm of chromosome 17 (17q11.2). Loss of the gene function, due to a point mutation, leads to an increase in cell proliferation and the development of several tumors. …”
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923
Managing Air Traffic Flow With Link Flow Rate Control: A Pure Integer Programming Model With More Accurate Link Connection Modeling
Published 2024-01-01“…The optimization problem is computationally NP-hard, and a modified genetic algorithm is then presented to solve it. Besides a new chromosome coding rule for converting binary decision into time series vectors, the algorithm uses a taboo mutation operator and an adaptive mutation probability selection operator. …”
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924
Complete Morris Syndrome. Case Presentation
Published 2020-02-01“…A karyotype was described describing chromosomally 46XY. In prepubertal age it is reevaluated with bilateral inguinal hernias and external genitals of female appearance. …”
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925
Pathogenetic, Clinical, and Prognostic Features of Adult t(4;11)(q21;q23)/MLL-AF4 Positive B-Cell Acute Lymphoblastic Leukemia
Published 2011-01-01“…Patients expressing this chromosomal aberration present typical biological, immunophenotypic, and clinical features. …”
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926
Chladni and Fractal Dynamics: Dual Mode Marker to Map Cancer Cell Nucleus Disintegration Phases
Published 2024-12-01“…In this study, we captured images of fractal patterns formed by chromosomal compartments and developed a theoretical model of their fractal dynamics. …”
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927
Research on Loading and Unloading Resource Scheduling and Optimization of Rail–Road Transportation in Container Terminal Based on “Internet +” —for Ghana Container Port Development...
Published 2020-01-01“…In order to solve the model, a multi-layer coding genetic algorithm with chromosome feasibility is designed to obtain the optimal scheduled time for the truck, and the optimal operation sequence of the gantry crane. …”
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928
Ensuring the Stability of the Genome: DNA Damage Checkpoints
Published 2001-01-01“…A key component of the DNA damage response is checkpoint signalling, which monitors the state of the genome prior to DNA replication (G1/S) and chromosome segregation (G2/M). Checkpoint signalling in model systems including mice, Xenopus laevis, Drosophila melanogaster, and the yeasts Saccharomyces cerevisiae and Schizosaccharomyces pombe have been useful in elucidating these pathways in mammalian cells. …”
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929
Congenital Hemifacial Hyperplasia: Clinical Presentation and Literature Review
Published 2016-01-01“…Multiple tissue involvement has resulted due to etiological heterogeneity like heredity, chromosomal abnormalities, altered intrauterine environment, and endocrine dysfunctions. …”
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930
Development of Asymmetric Facial Depigmentation in a Patient Treated with Dasatinib with New-Onset Hypovitaminosis D: Case Report and Review of the Literature
Published 2017-01-01“…Dasatinib is a second-generation tyrosine kinase inhibitor (TKI) used to treat imatinib-resistant chronic myelogenous leukemia (CML), as well as other Philadelphia chromosome-positive lymphoproliferative disorders. While the most commonly reported cutaneous side effects with this therapy include a morbilliform eruption, skin exfoliation, and skin irritation, pigmentary abnormalities have also been observed, albeit much more rarely. …”
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931
Gain in 1q is a Common Abnormality in Phyllodes Tumours of the Breast
Published 2003-01-01“…The results suggest that DNA copy number changes are not associated with the histological grade or clinical behaviour of PT and the chromosomal changes on 3p appear to be rare. Colour figure can be viewed on http://www.esacp.org/acp/2003/25‐2/jee.htm.…”
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932
Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome
Published 2013-01-01“…Barakat syndrome (also known as HDR syndrome) is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease caused by mutation of the GATA3 gene located at chromosome 10p15. The exact prevalence of this disorder is not known but is very rare, with only about a dozen cases reported in the literature. …”
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933
A Rare Case of Severe Congenital RYR1-Associated Myopathy
Published 2018-01-01“…The diagnostic procedure was completed with the complete exome sequencing of the proband and of his parents and his sister, which showed new mutations in the ryanodine receptor gene (RYR1), which maps to chromosome 19q13.2 and encodes the skeletal muscle isoform of a calcium-release channel in the sarcoplasmic reticulum (RyR1). …”
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934
Multi-omic and single-cell profiling of chromothriptic medulloblastoma reveals genomic and transcriptomic consequences of genome instability
Published 2024-11-01“…Abstract Chromothripsis is a frequent form of genome instability, whereby a presumably single catastrophic event generates extensive genomic rearrangements of one or multiple chromosome(s). However, little is known about the heterogeneity of chromothripsis across different clones from the same tumour, as well as changes in response to treatment. …”
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935
GENETIC DIVERSITY OF BREAD WHEAT LANDRACES COLLECTED BY SCIENTIFIC EXPEDITIONS IN AFGHANISTAN
Published 2014-12-01“…Vavilov considered the territory of Afghanistan where one of the initial farming centers was generated to be part of the Middle Asian center of crop origin and diversity. Hexaploid 42-chromosomal wheat with the genome constitution AABBDD was also attributed to that center. …”
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936
Glycated Serum Protein Genetics and Pleiotropy with Cardiometabolic Risk Factors
Published 2019-01-01“…We localized a significant (LOD score=3.18) and novel GSP QTL on chromosome 11q, which has been previously linked to type 2 diabetes. …”
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937
Genome rearrangements in neurodevelopmental disorders of the central nervous system: origins, genomic mechanisms, functional and clinical consequences. Review article
Published 2022-03-01“…In our research, the detection of chromosomal aberrations by molecular karyotyping and whole exome sequencing capable of uncovering pathogenic variants in any of the human genes were the main technologies used to identify the molecular causes of intellectual disability. …”
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938
THE HETEROPLASMIC AND HOMOPLASMIC STATES OF MITOCHONDRIAL AND CHLOROPLAST DNA REGIONS IN THE PROGENIES OF WIDE HYBRIDS OF COMMON WHEAT OF DIFFERENT ORIGINS
Published 2014-12-01“…It has been found that the transition of mt- and cpDNA heteroplasmy, barley homoplasmy of chloroplast regions to wheat homoplasmy is associated with complete fertility restoration and barley chromosome elimination from the newly developed nuclear genomes of alloplasmic lines.…”
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939
Antioxidant Functions of Nitric Oxide Synthase in a Methicillin Sensitive Staphylococcus aureus
Published 2013-01-01“…However certain Gram positive bacteria including Staphylococcus aureus possess a gene encoding nitric oxide synthase (SaNOS) in their chromosome. In this study it was determined that under normal growth conditions, expression of SaNOS was highest during early exponential phase of the bacterial growth. …”
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940
Prader-Willi Syndrome: Clinical Aspects
Published 2012-01-01“…The syndrome is due to the loss of expression of several genes encoded on the proximal long arm of chromosome 15 (15q11.2–q13). The complex phenotype is most probably caused by a hypothalamic dysfunction that is responsible for hormonal dysfunctions and for absence of the sense of satiety. …”
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