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 9 of 9 for “"Beckwith-Wiedemann"”.
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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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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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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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Oct4 and Sox2 regulate methylation at the Igf2/H19 imprinting control region
… on maternal ICRs after fertilization, some Beckwith-Wiedemann patients showed maternal ICR methylation that correlated with mutations in one of the pair of octamer binding sites within the ICR. Using a tissue culture system, we found that both octamers were required for transgene …
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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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Evaluación de salud y desarrollo de niños hasta los 3 años de edad concebidos por técnicas de reproducción asistida.
… TRA hubo 4 diagnósticos genéticos: un caso de S. Beckwith-Wiedemann (SBW) por hipometilación IC2; un caso de S. Klinefelter (47,XXY) y 2 de enfermedad genética heredada (Enfermedad de Steinert de origen materno y Displasia ectodérmica hipohidrótica de origen paterno). Se detectó un patrón …
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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
… metabolic disorders such as type 2 diabetes and Beckwith-Wiedemann syndrome. Top candidate genes include potassium voltage-gated channel subfamily Q member 1 (KCNQ1), involved in insulin secretion and cardiac electrical activity, lymphocyte-specific protein 1 (LSP1), involved in inflammation and …