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 7 of 7 for “"Beckwith-Wiedemann syndrome"”.
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Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth disorder with variable expressivity and a predisposition to tumorigenesis, results from disordered expression and/or function of imprinted genes at chromosome 11p15.5. There are no generally agreed clinical diagnostic criteria, with …
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Establishment of a phenotypical model of adverse outcomes associated with assisted reproductive technologies
Beckwith-Wiedemann syndrome (BWS) is a loss-of-imprinting pediatric overgrowth syndrome. BWS is speculated to occur primarily as the result of the misregulation of imprinted genes associated with two clusters on chromosome 11p15.5, namely the KvDMR1 and H19/IGF2. There is a similar overgrowth …
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Molecular cytogenetics and genetic characterisation of chromosomal rearrangements
… 11p15 in 8 patients with the imprinting disorder Beckwith-Wiedemann syndrome (BWS). In addition to characterising 11p duplications in three patients, the breakpoints in two patients with balanced rearrangements were mapped to two distinct regions. Thirdly, I used high resolution SNP arrays …
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Large offspring syndrome, a bovine model for the human loss-of-imprinting overgrowth syndrome Beckwith-Wiedemann
Beckwith-Wiedemann syndrome (BWS) is a human loss-of-imprinting syndrome primarily characterized by macrosomia, macroglossia, and abdominal wall defects. BWS has been associated with misregulation of two clusters of imprinted genes. Children conceived with the use of assisted reproductive …
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Altered microrna expression profiles in bovine fetuses with an assisted reproduction-induced congenital overgrowth syndrome
… conditions in humans and ruminants, namely Beckwith-Wiedemann syndrome (BWS) and large offspring syndrome (LOS), respectively. Shared phenotypes and epigenotypes have been found between BWS and LOS. A previous study in our laboratory found global misregulation of transcripts in bovine …
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Infertility and infertility treatment: childhood cancer and epigenetic risks.
… disruptions in specific loci associated with Beckwith-Wiedemann syndrome and certain types of childhood cancer. While an association may still exist for different types of childhood cancer or methylation levels in other loci or tissues, these studies should reassure parents of children …
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Muscle disorder or metabolic disorder: genomic, transcriptomic, and metabolomic insights into the pathogenesis of wooden breast and white striping in commercial broiler chickens
… associated with type 2 diabetes and metabolic syndrome in mammals, and that reliance on insulin-independent glucose transport in the skeletal muscle of chickens may produce the wooden breast phenotype in lieu of increased plasma glucose levels. The remaining studies investigated hematologic, …