R Riveiro-Alvarez

Summary

Country: Spain

Publications

  1. ncbi Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease
    Jana Aguirre
    Fundacion Jimenez Diaz, Genetics, Avda Reyes Catolicos, 2, 28040, Madrid, Spain
    Hum Genet 122:548. 2007
  2. ncbi Gene symbol: ABCA4. Disease: Macular dystrophy
    Jana Aguirre-Lamban
    Fundacion Jimenez Diaz, Genetics, Avda Reyes Catolicos, 2, 28040 Madrid, Spain
    Hum Genet 124:319. 2008
  3. ncbi Gene symbol: ABCA4. Disease: Macular dystrophy
    Jana Aguirre-Lamban
    Fundacion Jimenez Diaz, Genetics, Avda Reyes Catolicos, 2, 28040 Madrid, Spain
    Hum Genet 124:314. 2008
  4. pmc Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants
    J Aguirre-Lamban
    Fundacion Jimenez Diaz, Genetics Department, Madrid, Spain
    Br J Ophthalmol 93:614-21. 2009
  5. doi Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene
    Jana Aguirre-Lamban
    Genetics Department, Fundacion Jimenez Diaz, Madrid, Spain
    Invest Ophthalmol Vis Sci 51:2615-9. 2010
  6. ncbi Human gene mutations. Gene symbol: ABCA4. Disease: Stargardt disease
    Jana Aguirre Lamban
    Fundacion Jimenez Diaz, Genetics, Avda Reyes Catolicos, 2, 28040, Madrid, Spain
    Hum Genet 122:211. 2007
  7. doi Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors
    Jana Aguirre-Lamban
    Genetics Department, Fundacion Jimenez Diaz CIBERER, Madrid, Spain
    Invest Ophthalmol Vis Sci 52:6206-12. 2011
  8. ncbi Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease
    Jana Aguirre-Lamban
    Fundacion Jimenez Diaz, Department Genetica, Madrid, Spain
    Hum Genet 121:648. 2007
  9. ncbi Gene symbol: ABCA4. Disease: Macular dystrophy
    Jana Aguirre-Lamban
    Fundacion Jimenez Diaz, Genetics, Avda Reyes Catolicos, 2, 28040 Madrid, Spain
    Hum Genet 124:321. 2008
  10. ncbi Human gene mutations. Gene symbol: CRB1. Disease: late onset retinitis pigmentosa
    Elena Vallespin
    Fundacion Jimenez Diaz, Genetics, Avd Reyes Catolicos, 2, 28040, Madrid, Spain
    Hum Genet 122:212. 2007

Collaborators

Detail Information

Publications29

  1. ncbi Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease
    Jana Aguirre
    Fundacion Jimenez Diaz, Genetics, Avda Reyes Catolicos, 2, 28040, Madrid, Spain
    Hum Genet 122:548. 2007
  2. ncbi Gene symbol: ABCA4. Disease: Macular dystrophy
    Jana Aguirre-Lamban
    Fundacion Jimenez Diaz, Genetics, Avda Reyes Catolicos, 2, 28040 Madrid, Spain
    Hum Genet 124:319. 2008
  3. ncbi Gene symbol: ABCA4. Disease: Macular dystrophy
    Jana Aguirre-Lamban
    Fundacion Jimenez Diaz, Genetics, Avda Reyes Catolicos, 2, 28040 Madrid, Spain
    Hum Genet 124:314. 2008
  4. pmc Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants
    J Aguirre-Lamban
    Fundacion Jimenez Diaz, Genetics Department, Madrid, Spain
    Br J Ophthalmol 93:614-21. 2009
    ....
  5. doi Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene
    Jana Aguirre-Lamban
    Genetics Department, Fundacion Jimenez Diaz, Madrid, Spain
    Invest Ophthalmol Vis Sci 51:2615-9. 2010
    ..The purpose of this study was to compare high-resolution melting (HRM) analysis with denaturing high-performance liquid chromatography (dHPLC), to evaluate the efficiency of the different screening methodologies...
  6. ncbi Human gene mutations. Gene symbol: ABCA4. Disease: Stargardt disease
    Jana Aguirre Lamban
    Fundacion Jimenez Diaz, Genetics, Avda Reyes Catolicos, 2, 28040, Madrid, Spain
    Hum Genet 122:211. 2007
  7. doi Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors
    Jana Aguirre-Lamban
    Genetics Department, Fundacion Jimenez Diaz CIBERER, Madrid, Spain
    Invest Ophthalmol Vis Sci 52:6206-12. 2011
    ..The purpose of this study was to determine (1) associations among mutations and polymorphisms and (2) the role of the polymorphisms as protector/risk factors...
  8. ncbi Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease
    Jana Aguirre-Lamban
    Fundacion Jimenez Diaz, Department Genetica, Madrid, Spain
    Hum Genet 121:648. 2007
  9. ncbi Gene symbol: ABCA4. Disease: Macular dystrophy
    Jana Aguirre-Lamban
    Fundacion Jimenez Diaz, Genetics, Avda Reyes Catolicos, 2, 28040 Madrid, Spain
    Hum Genet 124:321. 2008
  10. ncbi Human gene mutations. Gene symbol: CRB1. Disease: late onset retinitis pigmentosa
    Elena Vallespin
    Fundacion Jimenez Diaz, Genetics, Avd Reyes Catolicos, 2, 28040, Madrid, Spain
    Hum Genet 122:212. 2007
  11. ncbi Gene symbol: CRB1
    E Vallespin
    Fundacion Jimenez Diaz, Genetics, Avd Reyes Católicos 2, 28040 Madrid, Spain
    Hum Genet 120:914. 2007
  12. pmc Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease
    R Riveiro-Alvarez
    Fundacion Jimenez Diaz, Genetics Department, Madrid, Spain
    Br J Ophthalmol 93:1359-64. 2009
    ..To determine the carrier frequency of ABCA4 mutations in order to achieve an insight into the prevalence of autosomal recessive Stargardt disease (arSTGD) in the Spanish population...
  13. ncbi Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0538
    R Riveiro-Alvarez
    Fundacion Jimenez Diaz, Reyes Catolicos 2, 28040 Madrid, Spain
    Hum Genet 118:778. 2006
  14. ncbi Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0537
    R Riveiro-Alvarez
    Fundacion Jimenez Diaz, Reyes Catolicos 2, 28040 Madrid, Spain
    Hum Genet 118:777-8. 2006
  15. pmc Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease
    R Riveiro-Alvarez
    Fundacion Jimenez Diaz, Genetics, Reyes Catolicos 2, Madrid, Spain
    Mol Vis 13:96-101. 2007
    ..Stargardt disease (STGD) is the most common juvenile macular dystrophy, characterized by central visual impairment. All recessively inherited cases are thought to be due to mutations in the ABCA4 gene, mapped to 1p21-p13...
  16. ncbi Gene symbol: NDP. Disease: Norrie disease
    R Riveiro-Alvarez
    Fundacion Jimenez Diaz, Madrid, Spain
    Hum Genet 119:675. 2006
  17. ncbi Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0536
    R Riveiro-Alvarez
    Fundacion Jimenez Diaz, Reyes Catolicos 2, 28040 Madrid, Spain
    Hum Genet 118:777. 2006
  18. ncbi Novel human pathological mutations. Gene symbol: RDS. Disease: macular dystrophy
    Cristina Villaverde
    Fundacion Jimenez Diaz, Genetica, Avda Reyes Catolicos, 2, 28040, Madrid, Spain
    Hum Genet 122:555. 2007
  19. ncbi Gene symbol: CRB1
    Elena Vallespin
    Fundacion Jimenez Diaz, Genetics, Reyes Catolicos, 2, 28040, Madrid, Spain
    Hum Genet 121:287-8. 2007
  20. ncbi Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hs0512
    R Riveiro-Alvarez
    Fundacion Jimenez Diaz, Reyes Catolicos 2, 28040 Madrid, Spain
    Hum Genet 118:784. 2006
  21. ncbi Gene symbol: CRB1. Disease: early onset retinitis pigmentosa
    Elena Vallespin
    Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
    Hum Genet 119:681. 2006
  22. ncbi Gene symbol: CRB1
    Elena Vallespin
    Fundacion Jimenez Diaz, Genetics, Reyes Catolicos, 2, 28040, Madrid, Spain
    Hum Genet 121:297-8. 2007
  23. ncbi Novel human pathological mutations. Gene symbol: GUCY2D. Disease: early onset retinitis pigmentosa
    A Avila-Fernandez
    Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
    Hum Genet 121:650-1. 2007
  24. ncbi Gene symbol: ABCA4. Disease: Stargardt disease 1
    R Riveiro-Alvarez
    Fundacion Jimenez Diaz, Madrid, Spain
    Hum Genet 119:671. 2006
  25. ncbi Gene symbol: RS1. Disease: X-linked juvenile retinoschisis
    R Riveiro-Alvarez
    Fundacion Jimenez Diaz, Av Reyes Catolicos 2, Madrid, Spain
    Hum Genet 118:534. 2005
  26. pmc Association of common genetic variants with risperidone adverse events in a Spanish schizophrenic population
    B Almoguera
    Department of Genetics and Genomics, CAIBER Unit, IIS Fundación Jiménez Díaz, Madrid, Spain
    Pharmacogenomics J 13:197-204. 2013
    ..There were other non-significant trends for DRD3 9Gly and SLC6A4 S alleles. Our results, although preliminary, provide new candidate variants of potential use in risperidone safety prediction...
  27. ncbi Gene symbol: BEST1. Disease: Best macular dystrophy
    Susana Maia-Lopes
    IBILI, Vision Psychophysiology Unit, Faculty of Medicine, University of Coimbra, IBILI, Az Sta Comba, S N, 3000 354Coimbra, Portugal
    Hum Genet 123:112. 2008
  28. ncbi Gene symbol: ABCA4. Disease: Macular dystrophy
    Susana Maia-Lopes
    IBILI, Vision Psychophysiology Unit, Faculty of Medicine, University of Coimbra, IBILI, Az Sta Comba, S N, 3000 354Coimbra, Portugal
    Hum Genet 123:112. 2008
  29. ncbi Gene symbol: ABCA4. Disease: Macular dystrophy
    Susana Maia-Lopes
    IBILI, Vision Psychophysiology Unit, Faculty of Medicine, University of Coimbra, IBILI, Az Sta Comba, S N, 3000 354Coimbra, Portugal
    Hum Genet 123:111. 2008