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Ruiz Llorente, Sergio

Biomedicina y Biotecnología / Universidad de Alcalá

Publications

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

  • Cebrián, A.
  • Ruíz-Llorente, S.
  • Cascón, A.
  • Osorio, A.
  • Martínez-Delgado, B.
  • Benítez, J.
  • Robledo, M.
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Journal of Human Genetics (p. 190-195) - 2002

  • ISSN/ISBN 1434-5161

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

  • Cascón, A.
  • Cebrián, A.
  • Ruiz-Llorente, S.
  • Tellería, D.
  • Benítez, J.
  • Robledo, M.

Journal of medical genetics - 2002

10.1136/jmg.39.10.e64 View at source

  • ISSN/ISBN 1468-6244

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

  • Cascon, A.
  • Ruiz-Llorente, S.
  • Cebrian, A.
  • Telleria, D.
  • Rivero, J.C.
  • Diez, J.J.
  • Lopez-Ibarra, P.J.
  • Jaunsolo, M.A.
  • Benitez, J.
  • Robledo, M.
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European Journal of Human Genetics (p. 457-461) - 2002

10.1038/sj.ejhg.5200829 View at source

  • ISSN/ISBN 1018-4813

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

  • Robledo, M.
  • Gil Alberdi, Laura
  • Pollán, M.
  • Cebrián, A.
  • Ruíz, S.
  • Azañedo, M.
  • Benitez, J.
  • Menárguez, J.
  • Rojas, J.M.
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Cancer Research (p. 1814-1817) - 2003

  • ISSN/ISBN 0008-5472

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

  • Cebrián, A.
  • Ruiz-Llorente, S.
  • Cascón, A.
  • Pollán, M.
  • Díez, J.J.
  • Picó, A.
  • Tellería, D.
  • Benítez, J.
  • Robledo, M.
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Journal of medical genetics - 2003

  • ISSN/ISBN 1468-6244

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

  • Meléndez, B.
  • Rodríguez-Perales, S.
  • Martínez-Delgado, B.
  • Otero, I.
  • Robledo, M.
  • Martínez-Ramírez, A.
  • Ruiz-Llorente, S.
  • Urioste, M.
  • Cigudosa, J.C.
  • Benítez, J.
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Human Genetics (p. 178-185) - 2003

  • ISSN/ISBN 0340-6717

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

  • Cascón, A.
  • Ruiz-Llorente, S.
  • Cebrián, A.
  • Letón, R.
  • Tellería, D.
  • Benítez, J.
  • Robledo, M.
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Genes Chromosomes and Cancer (p. 220-221) - 2003

10.1002/gcc.10212 View at source

  • ISSN/ISBN 1045-2257

Genetic and epigenetic profile of sporadic pheochromocytomas.

  • Cascon, A.
  • Ruiz-Llorente, S.
  • Fraga, M.F.
  • Leton, R.
  • Telleria, D.
  • Sastre, J.
  • Diez, J.J.
  • Martinez Diaz-Guerra, G.
  • Diaz Perez, J.A.
  • Benitez, J.
  • Esteller, M.
  • Robledo, M.
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Journal of medical genetics - 2004

  • ISSN/ISBN 1468-6244

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

  • Ruiz-Llorente, S.
  • Bravo, J.
  • Cebrián, A.
  • Cascón, A.
  • Pollan, M.
  • Tellería, D.
  • Letón, R.
  • Urioste, M.
  • Rodríguez-López, R.
  • De Campos, J.M.
  • Muñoz, M.J.
  • Lacambra, C.
  • Benítez, J.
  • Robledo, M.
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Human Mutation (p. 160-169) - 2004

10.1002/humu.10309 View at source

  • ISSN/ISBN 1059-7794

PupaSNP Finder: A web tool for finding SNPs with putative effect at transcriptional level

  • Conde, L.
  • Vaquerizas, J.M.
  • Santoyo, J.
  • Al-Shahrour, F.
  • Ruiz-Llorente, S.
  • Robledo, M.
  • Dopazo, J.
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Nucleic Acids Research - 2004

10.1093/nar/gkh438 View at source

  • ISSN/ISBN 0305-1048

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Last data update: 9/16/23 6:29 PM