Cód. SSPA: IBiS-C-03
Current lines of investigation
- Enteric Nervous system alterations. Hirschsprung's disease as a model for polygenic diseases and Intestinal Neuronal Dysplasia
Keywords: Hirschsprung's disease, RET proto-oncogene, susceptibility factors, complex model of disease, "HSCR Haplotype", susceptibility loci, intestinal neuronal dysplasia.
- Thyroid cancer
Keywords: Multiple Endocrine Neoplasia type 2, medullary thyroid cancer, papillary thyroid cancer, sporadic tumors; germinal mutations at RET; modifier factors; molecular and functional characterization.
- Genetic Mental Retardation syndromes
Keywords: Mental retardation, cryptic chromosomal anomalies, MLPA, molecular karyotyping, microarrays, SNPs
- Spinal Muscular Atrophy
Keywords: SMA; SMN1; SMN2; genotype-phenotype correlation.
