Publicacións en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (15)

2021

  1. Role of somatic mutations and chromosomal aberrations in the prognosis of uveal melanoma in a Spanish patient cohort

    Acta Ophthalmologica, Vol. 99, Núm. 7, pp. e1077-e1089

2011

  1. Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: Prevalence, evolution of hormone dysfunction and genetic analysis

    Neuroendocrinology, Vol. 93, Núm. 3, pp. 181-188

2008

  1. High frequency of copy number variations and sequence variants at CYP21A2 locus: Implication for the genetic diagnosis of 21-hydroxylase deficiency

    PLoS ONE, Vol. 3, Núm. 5

  2. Hypochondroplasia and acanthosis nigricans: A new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?

    European Journal of Endocrinology, Vol. 159, Núm. 3, pp. 243-249

2007

  1. A simple and robust quantitative PCR assay to determine CYP21A2 gene dose in the diagnosis of 21-hydroxylase deficiency

    Clinical Chemistry, Vol. 53, Núm. 9, pp. 1577-1584

2006

  1. High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect

    Clinical Endocrinology, Vol. 64, Núm. 3, pp. 330-336

2005

  1. Kallmann's syndrome with a novel missense mutation in the KAL1 gene that modifies the major cell adhesion site of the anosmin-1 protein

    Journal of Pediatric Endocrinology and Metabolism, Vol. 18, Núm. 6, pp. 545-548

2004

  1. Abnormal cell cycle regulation in primary human uveal melanoma cultures

    Journal of Cellular Biochemistry, Vol. 93, Núm. 4, pp. 708-720

2003

  1. Amniotic membrane as support for human retinal pigment epithelium (RPE) cell growth

    Acta Ophthalmologica Scandinavica, Vol. 81, Núm. 3, pp. 271-277

  2. Inhibition of Cdk4 activity enhances translation of p27kip1 in quiescent Rb-negative cells

    Journal of Biological Chemistry, Vol. 278, Núm. 15, pp. 12688-12695

  3. Phenotypic gender differences in subjects with familial partial lipodystrophy (dunnigan variety) due to a nuclear lamin A/C R482W mutation

    Hormone and Metabolic Research, Vol. 35, Núm. 1, pp. 29-35

  4. TGF-β-induced apoptosis in human thyrocytes is mediated by p27 kip1 reduction and is overridden in neoplastic thyrocytes by NF-κB activation

    Oncogene, Vol. 22, Núm. 49, pp. 7819-7830

1999

  1. The C494F variant in the CYP11B1 gene is a sequence polymorphism in the Spanish population [5]

    Journal of Clinical Endocrinology and Metabolism

1998

  1. A c-myc antisense oligonucleotide inhibits human retinal pigment epithelial cell proliferation

    Experimental Eye Research, Vol. 66, Núm. 5, pp. 581-589

1992

  1. Prothymosin α mRNA levels are invariant throughout the cell cycle

    Journal of Biological Chemistry, Vol. 267, Núm. 12, pp. 8692-8695