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RESEARCH GROUPS
Group U753
Programme: Paediatric and Developmental Medicine
Lead Researcher: Lapunzina Badía, Pablo D. Group Members
STAFF MEMBERS: Benito Sanz, Sara | Martínez González, Víctor Manuel
ASSOCIATED MEMBERS: Aza Carmona, Miriam | Barroso Ramos, Eva | Belinchón Martinez, Alberta | Cam- pos Barros, Ángel | De Torres Pérez Hidalgo, María Luisa | Del Pozo Mate, Ángela | Ezquieta Zubicaray, Be- goña | Fernández García Moya, Luis | García Miñaur Rica, Sixto | García Santiago, Fe Amalia | Heath, Karen Elise | Mansilla Aparicio, Elena | Martínez Fernández, Pilar | Martínez Montero, Paloma | Molano Mateos, Jesús | Mori Álvarez, María de los Ángeles | Nevado Blanco, Julian | Palomares Bralo, María | Santos Simarro, Fernando | Solera García, Jesús | Torres Jiménez, Rosa | Vallespín García, Elena
Main lines of research
• Congenital alterations of purine metabolism .
• Subtelomeric rearrangements in patients with idiopathic mental retardation .
• Genetic and functional analysis of genes SHOX and SHOX2 in human growth .
• Overgrowth syndromes . Epidemiology . Clinical presentations and molecular analysis .
• Genetic factors in harmonic hypo .
• Determinants and genetic modifiers of monogenic diabetes .
• Genetic analysis of the ghrelin axis in childhood obesity .
• Study of the physiopathology of neurological manifestations in HPRT deficiency . Implication of purines as neuromodulators .
• Design and optimization of a SNPs microarray for the evaluation of the therapeutic response and toxicity of a series of HIV patients .
• Rearrangements and complex genetic anomalies detected by a CGH array in patients with birth de- fects, mental retardation or tumors .
166 CIBERER » Annual report 2014