Segura Puimedon, Maria (Date of defense: 2012-11-20)
Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder caused by the common deletion of 26-28 contiguous genes in the 7q11.23 region, which poses difficulties to the establishment of ...
Bou de Pieri, Francesc (Date of defense: 2020-12-17)
Tot i que l’obesitat és clarament deguda a un desequilibri entre la ingesta d’energia i la despesa, i està molt associada a l’estil de vida, es considera una malaltia multifactorial amb una alta ...
Antonell Boixader, Anna (Date of defense: 2006-04-20)
En aquest treball es presenta l'evolució molecular i estudi funcional de gens localitzats a les duplicacions segmentàries de la regió 7q11.23, implicada en la Síndrome de Williams-Beuren (SWB). S'ha ...
Reina Castillón, Judith (Date of defense: 2017-10-24)
Somatic genetic mosaicism can be present both in healthy individuals but also in subjects with certain conditions as ageing or cancer. Its detection by SNP array in blood can be used as biomarker of ...
Rodríguez Sodupe, Pau (Date of defense: 2022-03-09)
The profiling of circulating-tumor DNA (ctDNA) in blood plasma, often known as liquid biopsy, has recently been of great interest in cancer research. This minimally-invasive strategy relies on the fact ...
Villa Marcos, Olaya (Date of defense: 2009-10-27)
El establecimiento de correlaciones entre fenotipo y genotipo es uno de los principales objetivos de la genética. La obtención de un diagnóstico ajustado facilita el manejo clínico del paciente, así ...
Valle Domínguez, Jesús Manuel del (Date of defense: 2008-07-14)
En la presente tesis doctoral se ha realizado un estudio de investigación encaminado a definir los genes responsables que causan hipercrecimiento en humanos, así como la identificación y caracterización ...
Costa Roger, Mar (Date of defense: 2021-05-14)
Autism Spectrum Disorder (ASD) is a group of neurodevelopmental disorders, the etiology of which is unknown in the majority of cases. Little is known about complex genomic regions containing part of the ...
Serra Juhé, Clara (Date of defense: 2012-10-20)
Mechanisms underlying congenital malformations are largely unknown despite its high incidence, affecting 2-3% of liveborn infants. A broader knowledge about the causes of birth defects would provide ...
Borralleras Fumaña, Cristina (Date of defense: 2016-07-15)
Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder caused by a heterozygous deletion of 26-28 contiguous genes in the 7q11.23 region. So far, a great deal of attention has been focused ...