Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 16 of 16 for “"Karyotyping"”.
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PICTURE PRE-PROCESSING INTERFACE FOR THE SIGMA-2 COMPUTER
… the field of human chromosome identification and karyotyping is introduced via a brief account of the biology of chromosomes and the effects upon them of electromagnetic radiations. Problems associated with the identification of chromosomes by mechanical means are discussed in the light of pattern …
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Application of Multiplex Reverse-Transcriptase Polymerase Chain Reaction for Identification of Leukemia Associated Gene Abnormalities
… abnormalities include chromosomal studies for karyotyping, FISH(Fluorescence in situ hybridization) and RT-PCR. However, each methods have limitations i.e. low sensitivity in karyotyping, uncertainty of molecular probe to be used in FISH or RT-PCR methods. Multiplex RT-PCR(MRT-PCR) allows …
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Genetic diversity of Anopheles mosquitoes
… can be done using the ANOSPP sequence data, e.g. karyotyping of the 2La inversion. The MalariaGEN Vector Observatory Anopheles funestus Genomic Surveillance Project phase 1.0 dataset (vobs-funestus phase 1.0 for short) consists of whole genome sequence data for 656 samples from 13 different …
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An Evaluation of Transforming Growth Factor-β Signalling in Adult Glioblastoma
… genes in cancer and in GBM was carried out using karyotyping, mutation data and mRNA expression data to demonstrate the potential of specific genes within the pathway. This was performed using Microsoft Excel and GraphPad Prism. The small proteoglycan decorin (DCN) was then explored as a potential …
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The Utilization of Prenatal Microarray: A Survey of Current Genetic Counseling Practices and Barriers
… copy number variants (CNVs) missed by standard karyotyping. The American College of Obstetricians and Gynecologists (ACOG) recommends CMA for all patients with fetuses with an ultrasound anomaly and suggests that it be made available to all women undergoing invasive testing. In order to assess …
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The biology of a population of all-female salamanders of the ambystoma jeffersonianum complex in East-Central Indiana
… tremblayi females in this population, including karyotyping, revealed that the animals are indeed triploid with a chromosome complement of 42 (N = 14). Two of the three chromosomes which were identified as belonging to group three possessed a distinct secondary constriction not previously …
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Machine Learning Techniques for Augmenting Hematological Malignancy Diagnosis
… laying the groundwork for an autonomous karyotyping system. Second, the first known application a GNN to MFC data is incredibly robust predicting various subtypes of acute promyelocytic leukemia and could be used as part of a clinical decision support system. Importantly, both these …
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Chromosomal evolution in mosquitoes - vectors of diseases
… Using sequencing data in combination with karyotyping, we demonstrated that significant differences in inversion frequencies distinguish An. messeae from An. daciae, suggesting that these inversions are actively involved in adaptation and speciation. It is essential to have reliable toolbox …
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Acquired Cytogenetic Changes in Adult Twins Discordant for a History of Childhood Sexual Abuse
… present in MN, which was assessed using spectral karyotyping methodologies, was not limited to the subset of chromosomes with telomeric attrition. In summary, this is the first assessment of acquired chromosomal abnormalities, chromosome-specific telomere lengths and cortisol levels in identical …
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Genetic disorders on the island of Mauritius
… or the founder effect, were documented. Karyotyping on selected individuals was undertaken in the laboratories of the Department of Human Genetics, University of Cape Town. A molecular genetic study of a large family with X-linked deafness of Nance, conducted by the same laboratory, …
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Termination Rates Following Prenatal Diagnosis For Down Syndrome: A Systematic Review
… prenatal diagnosis can only be made by karyotyping cultured fetal cells, which must be obtained via an invasive procedure such as chorionic villus sampling (CVS) or amniocentesis. </p> <p> The objective of this study was to review the published literature on termination rates among women …
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Utilization of fish for constitutional and acquired chromosomal abnormalities for diagnostic and prognostic purposes
… when used in conjunction with traditional karyotyping. FISH offers a more rapid alternative when turn around times are critical and allows for more specific resulting, particularly in cases where an abnormality of interest is unable to be visualized within a karyotype, specimens are …
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Investigating the role of a FAM111B mutation in hereditary fibrosing poikiloderma (POIKTMP) using induced pluripotent stem cell (iPSC) model
… (endoderm; mesoderm; ectoderm) and c) normal karyotyping. Next, the iPSCs from two patients, a Familial control and a Non-familial control were differentiated into mesenchymal stem/stromal cells (iPSC-MSCs) as a cell model in this study. Characterisation of derived iPSC-MSCs indicated positive …
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High resolution DNA copy number analysis of constitutional chromosomal aberrations in human genomic disorders
… analysis of banded metaphase chromosomes (karyotyping). Given the limited resolution of such analyses (5-10 Mb), it was anticipated that a significant number of submicroscopic deletions or duplications (DNA copy number variations, CNV) were overlooked in patients with idiopathic mental …
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IDENTIFICATIN AND CHARACTERIZATION OF PATHOGENICITY GENES IN FUSARIUM VIRGULIFORME, THE CAUSAL AGENET OF SUDDEN DEATH SYNDROME (SDS) IN SOYBEAN
<italic>Fusarium virguliforme</italic> is a soil-borne pathogen that causes sudden death syndrome (SDS) disease in soybean. SDS is one of the most significant diseases of soybean in the United States. Fungal infection results in root and crown rot as well as SDS typical foliar symptoms including …
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The Roles of Primary Cilia in Cardiovascular Diseases and Cancer
<p>Primary cilia are sensory organelles present in most mammalian cell types and regulate cell cycle and signaling pathways. Biochemical and molecular dysfunctions of primary cilia are associated with a wide range of diseases, including cancer, ciliopathies polycystic kidney disease (PKD, liver …