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 11 of 11 for “"aCGH"”.
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aCGH en la consulta de neuropediatría: significado clínico e implicación pronóstica
Background: aCGH is a molecular method utilized for detecting chromosomal alterations or copy number variations. aCGH has emerged as a premier diagnostic tool for investigating the genetic underpinnings of neurodevelopmental disorders. The aim of this study was to construct a database derived from …
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Investigation of de-novo copy number variants in patients with Autism Spectrum Disorder in Vietnam
… microarray comparative genomic hybridization (aCGH)) is considered as the first-tier screen for genetic aberrations in autistic children, albeit with a limited success (around 10% in studies primarily based on patients of Caucasian origin). Currently, there is no comprehensive study on the …
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An evidence-based policy for the provision of subsidised fertility treatment in California: Integration of array comparative genomic hybridisation with IVF and mandatory single embryo transfer to lower multiple gestation and preterm birth rates
… with array comparative genomic hybridisation (aCGH). This investigation considers the interconnected problems of preterm birth and multiple gestation in a demographic context, showing that although the contribution made by conventional IVF to these adverse outcomes in California is numerically …
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Human subtelomeric aberrations in the Hong Kong population
… Subsets of patients were further analysed by aCGH or MLPA multiprobe sets. A total of 600 patients were tested for subtelomeric aberrations, and 77 cases (12.8%) showed positive results. 31 patients (40%) had severe ID, 8 (10%) had moderate ID, 21 (27%) had mild ID, 10 (13%) had borderline …
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Matryoshka genetics: identification of disease-associated mutations in the human genome
… by array comparative genomic hybridisation (aCGH). The assays are variously applied to single gene and chromosomal disorders, and in some instances several techniques are applied together in order to provide more comprehensive analysis, or to guide the use of further testing. The clinical …
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IDENTIFICATION OF LOCI CONTRIBUTING TO THE SMITH-MAGENIS SYNDROME-LIKE PHENOTYPE AND MOLECULAR EVALUATION OF THE RETINOIC ACID INDUCED 1 GENE
… genome array comparative genomic hybridization (aCGH) to identify duplications or deletions of each individual’s genome which contribute to the phenotype observed. We identified 6 pathogenic copy number variants (CNVs) in six individuals which contribute directly to the clinical phenotype, …
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Characterisation of genetic and epigenetic aberrations in paediatric high grade glioma
Paediatric high grade glioma (HGG), including diffuse intrinsic pontine glioma (DIPG) are highly aggressive tumours with no effective cures. Lack of understanding of the molecular biology of these tumours, in part due to lack of well-characterised pre-clinical models, is a great challenge in the …
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Molecular Characterization of Male Breast Cancer
Cancer is today a major healthcare problem worldwide. There are many forms of cancer, which is a genetic disease, believed to result from a multistep process with genetic and epigenetic changes accumulating over time. Breast cancer is one of the most common forms of cancer in women, while it is …
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Genetic Profiling in Soft Tissue Sarcoma
Soft tissue sarcomas (STS) are a heterogeneous group of highly malignant mesenchymal tumors that account for ~1% of all malignancies. Frequent heterogeneity and pleomorphism along with suboptimal diagnostic reproducibility and insufficient prognostic markers make clinical management of these tumors …
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Bayesian Latent Class Models
The latent class model (LCM) is a statistical method that introduces a set of latent categorical variables. The main advantage of LCM is that conditional on latent variables, the manifest variables are mutually independent of each other. In some scenarios, the LCM makes the modeling or computation …