Publications in collaboration with researchers from Centro de Investigación Príncipe Felipe (11)

2011

  1. Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: Importance of genetic testing in the entire family

    Atherosclerosis, Vol. 218, Núm. 2, pp. 423-430

2003

  1. Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population

    European Journal of Human Genetics, Vol. 11, Núm. 12, pp. 959-965

2002

  1. Influence of plasma lipids, APOE genotype and type of LDL receptor gene mutations on myocardial infarction in subjects with familial hypercholesterolemia

    Medicina Clinica, Vol. 118, Núm. 18, pp. 681-685

2001

  1. Identificación y caracterización del primer español con defecto homocigoto familiar de unión de la apolipoproteína B

    Medicina Clinica, Vol. 116, Núm. 4, pp. 138-141

  2. Importance of HDL cholesterol levels and the total/HDL cholesterol ratio as a risk factor for coronary heart disease in molecularly defined heterozygous familial hypercholesterolaemia

    European Heart Journal, Vol. 22, Núm. 6, pp. 465-471

  3. Influencia de las mutaciones HF Valencia 1 y 2 del gen del receptor de LDL sobre la respuesta terapéutica a simvastatina en sujetos con hipercolesterolemia familiar heterocigota caracterizada molecularmente

    Medicina Clinica, Vol. 116, Núm. 3, pp. 81-85

  4. Large rearrangements of the LDL receptor gene and lipid profile in a FH Spanish population

    European Journal of Clinical Investigation, Vol. 31, Núm. 4, pp. 309-317

  5. Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis

    Human mutation, Vol. 18, Núm. 5, pp. 458-459

1999

  1. Plasma Lp (a) values in familial hypercholesterolemia and its relation to coronary heart disease

    Nutrition, Metabolism and Cardiovascular Diseases, Vol. 9, Núm. 1, pp. 41-44

1998

  1. Hipercolesterolemia familiar: Identificación y caracterización molecular del primer homozigoto compuesto Español

    Medicina Clinica, Vol. 110, Núm. 8, pp. 300-302

1996

  1. Seven DNA polymorphisms in the LDL receptor gene: Application to the study of familial hypercholesterolemia in Spain

    Clinical Genetics, Vol. 50, Núm. 1, pp. 28-35