Publikationen, an denen er mitarbeitet MARIA LOURDES DOMINGUEZ GERPE (5)

2009

  1. Prevalence and functional analysis of the S107P polymorphism (rs6647476) of the monocarboxylate transporter 8 (SLC16A2) gene in the male population of north-west Spain (Galicia)

    Clinical Endocrinology, Vol. 70, Núm. 4, pp. 636-643

  2. Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy

    Journal of Medical Genetics, Vol. 46, Núm. 1, pp. 40-48

2008

  1. A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy

    Clinical Endocrinology, Vol. 69, Núm. 1, pp. 61-68

  2. 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

  3. Prematurely aged children: molecular alterations leading to Hutchinson-Gilford progeria and Werner syndromes.

    Current aging science, Vol. 1, Núm. 3, pp. 202-212