Page 138 - CIBERER-2015-eng

Research Groups
Group U753
Programme: Paediatric and Developmental Medicine Lead Researcher: Lapunzina Badía, Pablo Daniel
Group members
STAFF MEMBERS: Benito Sanz, Sara | Martínez González, Víctor Manuel.
ASSOCIATED MEMBERS: Aza Carmona, Miriam | Barroso Ramos, Eva | Belinchón Martínez, Alberta | Campos Barros, Angel | De Torres Pérez Hidalgo, Ma Luisa | Del Pozo Maté, Ángela | Ezquieta Zubicaray, Begoña | 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, Ma de los Ángeles | Nevado Blanco, Julián | Palomares Bralo, María | Rodríguez Laguna, Lara | Santos Simarro, Fernando | Solera García, Jesús | Torres Jiménez, Rosa | Vallespín García, Elena.
Main lines of research
• Subtelomeric rearrangements in patients with idi- opathic mental retardation.
• Genetic and functional analysis of genes SHOX and SHOX2 in human growth.
• Genetic and functional analysis of skeletal dys- plasias. Multidisciplinary Skeletal Dysplasia Unit (UMDE).
• Overgrowth syndromes. Epidemiology. Clinical presentations and molecular analysis.
• Geneticaspectsofharmoniousgrowth.
• Determinantsandgeneticmodifiersofmonogen- ic diabetes.
• Genetic analysis of the ghrelin axis in childhood obesity.
• Congenital alterations of purine metabolism.
• 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 tumours.
• Moleculargeneticsofhypertrophicmyocardiopa- thy.
• Functional characterization of CLCN1 mutations causing congenital myotonia.
138 I Annual report 2015 I CIBERER