Sergio
Ruiz Llorente
Profesor/a Ayudante Doctor/a
Javier
Benítez Ortiz
Publications by the researcher in collaboration with Javier Benítez Ortiz (13)
2007
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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
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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
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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
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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
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Genetic Characterization and Structural Analysis of VHL Spanish Families to Define Genotype-Phenotype Correlations
Human Mutation, Vol. 23, Núm. 2, pp. 160-169
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Genetic and epigenetic profile of sporadic pheochromocytomas.
Journal of medical genetics, Vol. 41, Núm. 3
2003
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G12S and H50R variations are polymorphisms in the SDHD gene [1]
Genes Chromosomes and Cancer
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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
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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
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Polymorphisms G691S/S904S of RET as genetic modifiers of MEN 2A
Cancer Research, Vol. 63, Núm. 8, pp. 1814-1817
2002
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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
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Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma
European Journal of Human Genetics, Vol. 10, Núm. 8, pp. 457-461
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SDHB mutation analysis in familial and sporadic phaeochromocytoma identifies a novel mutation.
Journal of medical genetics, Vol. 39, Núm. 10