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 ...
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 ...
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 ...
Gutiérrez Arumi, Armand (Date of defense: 2016-01-15)
Significant advances were performed in mapping and characterizing different types of structural variation in the human genome such as point mutations, insertions, deletions, etc. Nevertheless, there is ...
Vilardell Nogales, Mireia (Date of defense: 2008-07-01)
El descubrimiento de las duplicaciones segmentarias (DS) o Low Copy Repeats (LCRs) ha permitido definir nuevos mecanismos evolutivos mediados, en gran parte, por duplicación génica. Las DS son responsables ...
Palacios Verdú, María Gabriela (Date of defense: 2015-10-19)
Williams-Beuren syndrome is a neurocognitive disorder with multisystemic manifestations of variable expressivity caused by a 1.55-1.83 Mb at chromosomal band 7q11.23. In this thesis project we have ...
Campo Casanelles, Miguel del (1)