María-Pilar López-Garrido

Learn More
PURPOSE To investigate CYP1B1 gene mutations in Spanish patients with ocular hypertension (OHT) or primary open angle glaucoma (POAG). METHODS The two coding exons of CYP1B1 were screened for sequence alterations by direct PCR DNA sequencing in 37 and 82 unrelated Spanish subjects diagnosed with OHT and POAG, respectively. As a control we used a group of(More)
PURPOSE To retrospectively investigate the contribution of myocilin (MYOC) and optineurin (OPTN) sequence variations to adult-onset ocular hypertension (OHT) and primary open-angle glaucoma (POAG) in Spanish patients. METHODS The promoter region and the three exons of MYOC were analyzed by direct PCR DNA sequencing in 40 OHT and 110 POAG unrelated(More)
PURPOSE To assess the mutation spectrum, enzymatic activity, and phenotypic features associated with CYP1B1 genotypes in primary congenital glaucoma (PCG) and nondominant juvenile glaucoma (ndJG). DESIGN CYP1B1 genotyping, segregation analysis, and functional evaluation of mutations in a cohort of patients. PARTICIPANTS A total of 177 probands(More)
PURPOSE To analyze the contributions of cytochrome P4501B1 (CYP1B1) mutations to primary congenital glaucoma (PCG) in Spanish patients. METHODS We analyzed, by polymerase chain reaction (PCR) DNA sequencing, the presence of promoter (-1 to -867) and exon CYP1B1 mutations in 38 unrelated Spanish probands affected by PCG. Functional analysis of nine(More)
PURPOSE The purposes of this study were to evaluate the genotypic and phenotypic correlations of Bietti crystalline dystrophy and to investigate the utility of in vivo corneal confocal microscopy in diagnosing this disorder. METHODS A Spanish woman (proband) with a clinical diagnosis of Bietti crystalline dystrophy and 7 members of her family were(More)
PURPOSE CYP1B1 activates procarcinogens in some human tissues, including the urinary tract. Changes related to genetic polymorphisms are a known risk factor for cancer. We analyzed the association between CYP1B1 sequence variations and bladder cancer. MATERIALS AND METHODS Sequence variations in the coding region (exons 2 and 3) and the neighboring(More)
PURPOSE To investigate the role of WDR36 and P53 sequence variations in POAG susceptibility. METHODS The authors performed a case-control genetic association study in 268 unrelated Spanish patients (POAG1) and 380 control subjects matched for sex, age, and ethnicity. WDR36 sequence variations were screened by either direct DNA sequencing or denaturing(More)
  • 1