Page 170 - MemoriaER-Eng

RESEARCH GROUPS

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PROGRAMME:
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Group U753
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Pediatric and íéÁíí
Developmental Medicine
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Group Members
Lead Researcher

STAFF MEMBERS
Lapunzina Badía, Pablo D.

Benito Sanz, Sara
Martnez Gonzlez, Vctor Manuel

Contact:
INGEMM-Instituto de Genética Médica y Molecular ASSOCIATED MEMBERS
Aza Carmona, Miriam
Paseo de la Castellana, 261. 28046 Madrid
Phone: (+34) 91 727 72 17 Barca Tierno, Vernica
Barroso Ramos, Eva
E.mail: [email protected] · Website: www.hulp.es
Belinchn Martnez, Alberta

Campos Barros, ngel
de Torres Prez Hidalgo, Mara Luisa Main lines of research

Del Pozo Mat, ngela • Congenital alterations of purine metabolism.
Delicado Navarro, Alicia
• Subtelomeric rearrangements in patients with idiopathic mental retardation.
Ezquieta Zubicaray, Begoa • Genetic and functional analysis of genes SHOX and SHOX2 in human growth.
Fernndez Garca-Moya, Luis
• Overgrowth syndromes. Epidemiology. Clinical presentations and molecular
Garca Garca, Marta analysis.

Garca Miaur, Sixto • Genetic factors in harmonic hypo.
Garca Santiago, F Amalia
• Determinants and genetic modifiers of monogenic diabetes.
Heath, Karen Elise
Magano Casero, Luis F. • Genetic analysis of the ghrelin axis in childhood obesity.

Mansilla Aparicio, Elena • Study of the physiopathology of neurological manifestations in HPRT deficiency.
Martnez Fernndez, Pilar Implication of purines as neuromodulators.

Martnez Montero, Paloma • Design and optimization of a SNPs microarray for the evaluation of the therapeutic
response and toxicity of a series of HIV patients.
Molano Mateos, Jess
Mori lvarez, Mara ngeles • Rearrangements and complex genetic anomalies detected by a CGH array in pa-
tients with birth defects, mental retardation or tumors.
Nevado Blanco, Julin
Palomares Bralo, Mara • Molecular genetics of hypertrophic myocardiopathy.

Romanelli, Valeria • Functional characterization of CLCN1 mutations causing congenital myotonia.
Santos Simarro, Fernando 13
• Molecular study of endothelial dysfunction in human cell models for diabetes and 20
Solera Garca, Jess aging.
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Torres Jimnez, Rosa • Molecular characterization of the 22q11.2 region by MLPA techniques and its co- PO
Vallespn Garca, Elena
rrelation with microsatellite genotyping and FISH.
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íL R
• Pharmacogenetics and pharmacogenomics.
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NU
• Autosomal recessive osteogenesis imperfecta.
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A
• Genomic diagnostic tools. Oligo-based microarrays, BCAs and SNPs.
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• Genomic, epigenetic and transcriptional study of tumours in polymalformative ER
ER
genetic syndromes.
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CI
• Macrocephaly-Capillary Malformation.
• Next Generation Sequencing as a new diagnostic tool in genetic sndromes.
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• Dravet Syndrome.