Martalucía Tamayo

Learn More
Autosomal recessive nonsyndromic hearing impairment (NSHI) is a heterogeneous condition, for which 53 genetic loci have been reported, and 29 genes have been identified to date. One of these, OTOF, encodes otoferlin, a membrane-anchored calcium-binding protein that plays a role in the exocytosis of synaptic vesicles at the auditory inner hair cell ribbon(More)
Twenty-three patients with congenital factor VII (FVII) deficiency, belonging to 9 kindreds were studied. Immunological variants were classified according to the relationship between FVII coagulant activity (FVIIC) and the level of FVII antigen (FVIIAg), considering 3 previously described groups: VII-, VII+ and VIIR. Activation variants were determined by(More)
Genetic mechanisms of filarial nematode susceptibility were studied in Aedes togoi. Acid hydrolases may play an important role in this process, including humoral or cell-mediated defenses. Levels of acid phosphatase, alpha-glucosidase, beta-glucuronidase, and N-acetyl-beta-glucosaminidase were determined for 1st- and 4th-instar larvae, male and female(More)
INTRODUCTION Usher syndrome is a disorder characterized by progressive retinitis pigmentosa, prelingual sensory hearing loss and vestibular dysfunction. It is the most frequent cause of deaf-blindness in humans. Three clinical types and twelve genetic subtypes have been characterized. Type II is the most common, and among these cases, nearly 80% have(More)
  • 1