R Riveiro-Alvarez

Summary

Country: Spain

Publications

  1. pmc High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population
    Marta Corton
    Department of Genetics, IIS Fundación Jiménez Díaz, Madrid, Spain
    Orphanet J Rare Dis 8:20. 2013
  2. pmc ATA homozigosity in the IL-10 gene promoter is a risk factor for schizophrenia in Spanish females: a case control study
    Berta Almoguera
    Genetics Department, CAIBER Unit, IIS Fundación Jiménez Díaz, Madrid, Spain
    BMC Med Genet 12:81. 2011
  3. ncbi request reprint 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
  4. ncbi request reprint 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
  5. ncbi request reprint Novel human pathological mutations. Gene symbol: RS1. Disease: X-linked juvenile retinoschisis
    Rosa Riveiro-Alvarez
    Fundacion Jimenez Diaz, Department Genetics, Madrid, Spain
    Hum Genet 121:647. 2007
  6. doi request reprint Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis
    Rosa Riveiro-Alvarez
    Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
    Invest Ophthalmol Vis Sci 50:4342-50. 2009
  7. pmc Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa
    Rosa Riveiro-Alvarez
    Genetics Department, Fundacion Jimenez Diaz CIBERER, Madrid, Spain
    Mol Vis 14:262-7. 2008
  8. ncbi request reprint Gene symbol: RS1. Disease: Retinoschisis, X linked juvenile
    Rosa Riveiro-Alvarez
    Fundacion Jimenez Diaz CIBERER, Genetics, Reyes Catolicos, 2, 28040 Madrid, Spain
    Hum Genet 124:307-8. 2008
  9. ncbi request reprint Gene symbol: NDP. Disease: Norrie disease
    Rosa Riveiro-Alvarez
    Fundacion Jimenez Diaz CIBERER, Genetics, Reyes Catolicos, 2, 28040, Madrid, Spain
    Hum Genet 124:308. 2008
  10. 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

Collaborators

  • A Avila-Fernandez
  • C Ramos
  • Elena Vallespin
  • Carmen Ayuso
  • Cristina Villaverde
  • J M Millan
  • Isabel Lorda-Sanchez
  • J Gallego
  • Diana Valverde
  • Cristina Gonzalez Gonzalez
  • Ana Bustamante Aragones
  • Guillermo Antinolo
  • Miguel Carballo
  • M J Trujillo-Tiebas
  • D Cantalapiedra
  • Jana Aguirre-Lamban
  • R Riveiro
  • C Villaverde-Montero
  • Diego Cantalapiedra
  • A Gimenez
  • A Queipo
  • M Garcia-Hoyos
  • Maria Jose Trujillo-Tiebas
  • B Almoguera
  • Marta Corton
  • Blanca Garcia-Sandoval
  • Berta Almoguera
  • Mónica Martínez-García
  • Cristina Villaverde-Montero
  • J Aguirre-Lamban
  • Ana Bustamante-Aragones
  • M A Lopez-Martinez
  • Jana Aguirre
  • Jana Aguirre Lamban
  • F Abad-Santos
  • Sara Bernal
  • J Lopez-Castroman
  • C Vaquero-Lorenzo
  • P Dorado
  • E Baca-Garcia
  • Fiona Blanco-Kelly
  • A LLerena
  • Montserrat Baiget
  • Sorina D Tatu
  • J Fernandez-Piqueras
  • Ignacio Tapias
  • R Dal-Re
  • Enrique Baca-Garcia
  • Francisco Abad-Santos
  • Rosario López-Rodríguez
  • Rafael Dal-Ré
  • Manuel Román
  • Alfredo de la Rubia
  • Jesús Novalbos
  • Pedro Dorado
  • Jesús Cobaleda
  • Jorge Lopez-Castroman
  • Maria Jose Trujillo
  • Concepcion Vaquero-Lorenzo
  • Jose Fernandez-Piqueras
  • Dolores Ochoa
  • Adrian Llerena
  • Montserrat Diaz
  • Eva M Peñas LLedó
  • Pablo Fernandez-Navarro
  • Maria Garcia-Hoyos
  • S Maia-Lopes
  • Dan Diego-Alvarez
  • Marta Rodriguez de Alba
  • Cristina Gonzalez-Gonzalez

Detail Information

Publications44

  1. pmc High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population
    Marta Corton
    Department of Genetics, IIS Fundación Jiménez Díaz, Madrid, Spain
    Orphanet J Rare Dis 8:20. 2013
    ..Here, we aimed investigating the real prevalence of CRB1 mutations in the Spanish population by extensive screening of CRB1 mutations in a large cohort of LCA and EORP cases...
  2. pmc ATA homozigosity in the IL-10 gene promoter is a risk factor for schizophrenia in Spanish females: a case control study
    Berta Almoguera
    Genetics Department, CAIBER Unit, IIS Fundación Jiménez Díaz, Madrid, Spain
    BMC Med Genet 12:81. 2011
    ....
  3. ncbi request reprint 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
  4. ncbi request reprint 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
  5. ncbi request reprint Novel human pathological mutations. Gene symbol: RS1. Disease: X-linked juvenile retinoschisis
    Rosa Riveiro-Alvarez
    Fundacion Jimenez Diaz, Department Genetics, Madrid, Spain
    Hum Genet 121:647. 2007
  6. doi request reprint Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis
    Rosa Riveiro-Alvarez
    Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
    Invest Ophthalmol Vis Sci 50:4342-50. 2009
    ..This study was conducted to describe and further correlate specific genetic variation in Spanish patients with XLRS with clinical characteristics and additional ophthalmic complications...
  7. pmc Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa
    Rosa Riveiro-Alvarez
    Genetics Department, Fundacion Jimenez Diaz CIBERER, Madrid, Spain
    Mol Vis 14:262-7. 2008
    ..It has been associated with mutations in different genes, including CRB1. The aim of this study was to determine the genetic causes for two different retinal dystrophies, STGD and early-onset arRP, both segregating in one Spanish family...
  8. ncbi request reprint Gene symbol: RS1. Disease: Retinoschisis, X linked juvenile
    Rosa Riveiro-Alvarez
    Fundacion Jimenez Diaz CIBERER, Genetics, Reyes Catolicos, 2, 28040 Madrid, Spain
    Hum Genet 124:307-8. 2008
  9. ncbi request reprint Gene symbol: NDP. Disease: Norrie disease
    Rosa Riveiro-Alvarez
    Fundacion Jimenez Diaz CIBERER, Genetics, Reyes Catolicos, 2, 28040, Madrid, Spain
    Hum Genet 124:308. 2008
  10. 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...
  11. ncbi request reprint 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
  12. ncbi request reprint 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
  13. ncbi request reprint Gene symbol: RS1. Disease: X-linked juvenile retinoschisis
    R Riveiro
    Fundacion Jimenez Diaz, Av Reyes Catolicos 2, Madrid, Spain
    Hum Genet 118:536. 2005
  14. ncbi request reprint Gene symbol: RS1. Disease: X-linked juvenile retinoschisis
    R Riveiro
    Fundacion Jimenez Diaz, Av Reyes Catolicos 2, Madrid, Spain
    Hum Genet 118:536. 2005
  15. ncbi request reprint Gene symbol: RS1. Disease: X-linked juvenile retinoschisis
    R Riveiro
    Fundacion Jimenez Diaz, Av Reyes Catolicos 2, Madrid, Spain
    Hum Genet 118:535. 2005
  16. ncbi request reprint Gene symbol: ABCA4. Disease: Stargardt disease 1
    R Riveiro-Alvarez
    Fundacion Jimenez Diaz, Madrid, Spain
    Hum Genet 119:671. 2006
  17. ncbi request reprint Gene symbol: RS1. Disease: X-linked juvenile retinoschisis
    R Riveiro
    Fundacion Jimenez Diaz, Av Reyes Catolicos 2, Madrid, Spain
    Hum Genet 118:535. 2005
  18. ncbi request reprint Gene symbol: NDP. Disease: Norrie disease
    R Riveiro-Alvarez
    Fundacion Jimenez Diaz, Madrid, Spain
    Hum Genet 119:675. 2006
  19. 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...
  20. 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
    ....
  21. ncbi request reprint 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
  22. ncbi request reprint 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
  23. ncbi request reprint 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
  24. ncbi request reprint 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
  25. ncbi request reprint Gene symbol: CRB1. Disease: early onset retinitis pigmentosa
    Elena Vallespin
    Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
    Hum Genet 119:681. 2006
  26. ncbi request reprint 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
  27. ncbi request reprint Gene symbol: CRB1
    E Vallespin
    Fundacion Jimenez Diaz, Genetics, Avd Reyes Católicos 2, 28040 Madrid, Spain
    Hum Genet 120:914. 2007
  28. ncbi request reprint Gene symbol: CRB1
    Elena Vallespin
    Fundacion Jimenez Diaz, Genetics, Reyes Catolicos, 2, 28040, Madrid, Spain
    Hum Genet 121:287-8. 2007
  29. ncbi request reprint 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
  30. ncbi request reprint 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
  31. ncbi request reprint Gene symbol: CRB1
    Elena Vallespin
    Fundacion Jimenez Diaz, Genetics, Reyes Catolicos, 2, 28040, Madrid, Spain
    Hum Genet 121:297-8. 2007
  32. ncbi request reprint 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
  33. ncbi request reprint Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray
    Elena Vallespin
    Department of Genetics, Fundacion Jimenez Diaz CIBERER, Madrid, Spain
    Invest Ophthalmol Vis Sci 48:5653-61. 2007
    ....
  34. ncbi request reprint 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
  35. ncbi request reprint 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
  36. doi request reprint CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa
    Almudena Avila-Fernandez
    Department of Genetics, Fundacion Jimenez Diaz CIBERER, Madrid, Spain
    Invest Ophthalmol Vis Sci 49:2709-13. 2008
    ..It encodes a ceramide kinase that is assumed to be involved in sphingolipid-mediated apoptosis in the retina. This is a report of the phenotypes and genotypes of persons carrying disease-causing mutations in CERKL...
  37. doi request reprint 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...
  38. ncbi request reprint Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa
    Elena Vallespin
    Department of Genetics, Fundacion Jimenez Diaz CIBERER, Madrid, Spain
    Mol Vis 13:2160-2. 2007
    ..The aim of the present study was to establish the prevalence of CEP290 c.2991_1655A>G in non-syndromic Spanish patients having LCA or early-onset retinitis pigmentosa (RP)...
  39. pmc Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis
    Ana Bustamante-Aragones
    Department of Genetics, Fundacion Jimenez Diaz Capio, CIBERER, Madrid, Spain
    Mol Vis 14:1388-94. 2008
    ..The aim of the present work was to study a fetal mutation associated to LCA in maternal plasma by a new methodology in the noninvasive prenatal diagnosis field: the denaturing High Performance Liquid Chromatography (dHPLC)...
  40. 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...
  41. doi request reprint Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism
    Mónica Martínez-García
    Genetics and Genomics Department, Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain
    Clin Experiment Ophthalmol 38:489-95. 2010
    ..This study was undertaken to analyse the OA1 gene (GPR143) and its involvement in a Spanish family presenting with nystagmus, a common symptom of X-linked ocular albinism (XLOA)...
  42. ncbi request reprint Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients
    Diana Valverde
    Facultad de Biologia, Universidad de Vigo, Vigo, Spain
    Invest Ophthalmol Vis Sci 48:985-90. 2007
    ..The purpose of this study is to describe the spectrum of mutations in the ABCA4 gene found in Spanish patients affected with several retinal dystrophies...
  43. ncbi request reprint Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: evidence of a prevalent mutated allele
    Diana Valverde
    Departmento de Bioquimica, Genética e Inmunología, Facultad de Biologia, Universidad de Vigo, Vigo, Spain
    Mol Vis 12:902-8. 2006
    ....
  44. ncbi request reprint Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR
    Rosa Riveiro-Alvarez
    Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
    Mol Vis 11:705-12. 2005
    ..In this study, we report the molecular findings and the related phenotype in five Spanish families affected with Norrie disease or XL-FEVR due to mutations of the NDP gene...