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 6 of 6 for “"MS-MLPA"”.
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Cambios epigenéticos, génicos y de expresión proteica en el cáncer de laringe. Análisis del segmento cromosómico 9P21
… Specific-Multiple Ligand Probe Amplification (MS-MLPA). Se utilizó la mezcla de sondas SALSA ME001, diseñada para múltiples genes relacionados con la carcinogénesis y progresión tumoral. Se seleccionó después una muestra específica de 27 de casos con pérdidas o metilaciones en CDKN2A y/o CDKN2B …
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Análise cromossômica por microarray em pacientes com deficiência intelectual associada à obesidade
… Síndrome de Prader-Willi (PWS) pela técnica de MS-MLPA. Para a análise de microarranjos foram selecionados 20 pacientes, dos quais quatro apresentaram LOH, sendo que um deles no cromossomo 11, na região da síndrome de Bardet-Biedl, permitindo assim o diagnóstico da síndrome. Em um paciente foi …
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The Role of Epigenetics in Hereditary Colorectal Cancer Tumorigenesis: Validation of Genome-Wide Methylation Array Results through Bisulfite Sequencing
… deeper insights into the molecular mechanisms underlying CRC. This thesis, conducted as a part of ongoing research into the DNA methylation profile of Lynch syndrome and Familial adenomatous polyposis-associated colorectal tumors, aimed to validate methylation patterns previously obtained …
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Elucidation of the occurrence of extracolonic cancers in Lynch syndrome
… via a panel of microsatellite rich genes and MS-MLPA. Finally, in silico analyses were undertaken assessing microarray data from microsatellite unstable colorectal and endometrial cancers to characterise novel candidate genes. The modifier study did not prove fruitful as no association was …
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Comparación de perfiles de metilación de genes supresores tumorales en distintos subgrupos de tumores vesicales no músculo-invasivos
… de ligación y específica de metilación (MS-MLPA), tomándose como umbrales los valores de 0.3 y 0.5. Recidiva, progresión a tumor músculo invasor y supervivencia cáncer-específica fueron analizados usando el test univariado y multivariado de Cox. RESULTADOS: El gen más frecuentemente …
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Implementierung hochauflösender molekulargenetischer Methoden zur Klärung der Pathophysiologie des Silver-Russell-Syndroms
… methylation defects a methylation-specific (MS)-PCR for the MEST locus in 7q32 was used in the past. In this study an additional MS-PCR for the identification of segmental uniparental disomies as well as epimutations at the GRB10 locus in 7p12 was established. An isolated hypermethylation was …