Publicacións nas que colabora con Lourdes Loidi (24)

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

2013

  1. A new seipin-associated neurodegenerative syndrome

    Journal of Medical Genetics, Vol. 50, Núm. 6, pp. 401-409

2010

  1. Functional consequences of seven novel mutations in the CYP11B1 gene: Four mutations associated with nonclassic and three mutations causing classic 11β-hydroxylase deficiency

    Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 2, pp. 779-788

  2. Genetic study of the hepcidin gene (HAMP) promoter and functional analysis of the c.-582A > G variant

    BMC Genetics, Vol. 11

2009

  1. Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system.

    Human mutation, Vol. 30, Núm. 2

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

  3. Pendred syndrome in two Galician families: Insights into clinical phenotypes through cellular, genetic, and molecular studies

    Journal of Clinical Endocrinology and Metabolism, Vol. 93, Núm. 1, pp. 267-277

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. Genetic basis of short stature

    Journal of Endocrinological Investigation

  2. 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. Therapeutic optimization of growth hormone deficiency in children and adolescents

    Journal of Pediatric Endocrinology and Metabolism, Vol. 17, Núm. SUPPL. 3, pp. 401-410

2003

  1. 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

2002

  1. Novel mutation involving the translation initiation codon of the growth hormone receptor gene (GHR) in a patient with Laron syndrome

    Journal of Pediatric Endocrinology and Metabolism, Vol. 15, Núm. 7, pp. 1041-1045

2001

  1. LightCycler PCR assay for genotyping codon 634 mutations in the RET protooncogene [2]

    Clinical Chemistry

2000

  1. Tumour prothymosin alpha content, a potential prognostic marker for primary breast cancer

    British Journal of Cancer, Vol. 82, Núm. 3, pp. 584-590

1999

  1. Complex regulation of prothymosin alpha in mammary tumors arising in transgenic mice

    Life Sciences, Vol. 64, Núm. 23, pp. 2125-2133

  2. 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