Publicaciones en las que colabora con Javier Benítez Ortiz (13)

2007

  1. Association study of 69 genes in the ret pathway identifies low-penetrance loci in sporadic medullary thyroid carcinoma

    Cancer Research, Vol. 67, Núm. 19, pp. 9561-9567

  2. Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients

    Human Mutation, Vol. 28, Núm. 6, pp. 613-621

2005

  1. A novel candidate region linked to development of both pheochromocytoma and head/neck paraganglioma

    Genes Chromosomes and Cancer, Vol. 42, Núm. 3, pp. 260-268

  2. Brief report: Succinate dehydrogenase D variants do not constitute a risk factor for developing C cell hyperplasia or sporadic medullary thyroid carcinoma

    Journal of Clinical Endocrinology and Metabolism, Vol. 90, Núm. 4, pp. 2127-2130

2004

  1. Genetic Characterization and Structural Analysis of VHL Spanish Families to Define Genotype-Phenotype Correlations

    Human Mutation, Vol. 23, Núm. 2, pp. 160-169

  2. Genetic and epigenetic profile of sporadic pheochromocytomas.

    Journal of medical genetics, Vol. 41, Núm. 3

2003

  1. G12S and H50R variations are polymorphisms in the SDHD gene [1]

    Genes Chromosomes and Cancer

  2. Molecular study of a new family with hereditary renal cell carcinoma and a translocation t(3;8)(p13;q24.1)

    Human Genetics, Vol. 112, Núm. 2, pp. 178-185

  3. Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients.

    Journal of medical genetics, Vol. 40, Núm. 5

  4. Polymorphisms G691S/S904S of RET as genetic modifiers of MEN 2A

    Cancer Research, Vol. 63, Núm. 8, pp. 1814-1817

2002

  1. A rapid and easy method for multiple endocrine neoplasia type 1 mutation detection using conformation-sensitive gel electrophoresis

    Journal of Human Genetics, Vol. 47, Núm. 4, pp. 190-195

  2. Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma

    European Journal of Human Genetics, Vol. 10, Núm. 8, pp. 457-461

  3. SDHB mutation analysis in familial and sporadic phaeochromocytoma identifies a novel mutation.

    Journal of medical genetics, Vol. 39, Núm. 10