Isabel Lorda-Sanchez

Summary

Country: Spain

Publications

  1. ncbi request reprint Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child
    I Lorda-Sanchez
    Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
    Am J Med Genet 95:336-8. 2000
  2. ncbi request reprint Trisomy 2 due to a 3:1 segregation in an abortion studied by QF-PCR and CGH
    Isabel Lorda-Sanchez
    Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
    Prenat Diagn 25:934-8. 2005
  3. ncbi request reprint Turner phenotype in a girl with a 45,X/46,XX/47,XX,+18 mosaicism
    Isabel Lorda-Sanchez
    Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
    Am J Med Genet A 121:20-4. 2003
  4. ncbi request reprint Aniridia as part of a WAGR syndrome in a girl whose brother presented hypospadias
    I Lorda-Sanchez
    Departmento de Genetica, Fundacion Jimenez Diaz, Madrid, Spain
    Genet Couns 13:171-7. 2002
  5. ncbi request reprint Detection of a paternally inherited fetal mutation in maternal plasma by the use of automated sequencing
    Ana Bustamante-Aragones
    Department of Genetics, Fundacion Jimenez Diaz, Avda Catolicos 2, 2840 Madrid, Spain
    Ann N Y Acad Sci 1075:108-17. 2006
  6. ncbi request reprint Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa
    Maria Garcia-Hoyos
    Department of Medical Genetics, Fundacion Jimenez Diaz, Madrid, Spain
    Invest Ophthalmol Vis Sci 47:3777-82. 2006
  7. ncbi request reprint Application of fetal DNA detection in maternal plasma: a prenatal diagnosis unit experience
    Cristina Gonzalez-Gonzalez
    Fundacion Jimenez Diaz, Genetica, Avda Reyes Catolicos 2, Madrid, 28040, Spain
    J Histochem Cytochem 53:307-14. 2005
  8. 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
  9. ncbi request reprint Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages
    Dan Diego-Alvarez
    Fundacion Jimenez Diaz Human Genetics, Avda Reyes Catolicos, Madrid, Spain
    Hum Reprod 20:1235-43. 2005
  10. doi request reprint New type of mutations in three spanish families with choroideremia
    Maria Garcia-Hoyos
    Department of Genetics, CIBER ER, Fundacion Jimenez Diaz, Madrid, Spain
    Invest Ophthalmol Vis Sci 49:1315-21. 2008

Collaborators

Detail Information

Publications15

  1. ncbi request reprint Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child
    I Lorda-Sanchez
    Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
    Am J Med Genet 95:336-8. 2000
    ..This illustrates the use of specific subtelomeric fluorescent in situ hybridization probes to detect cryptic deletions as an important cause of mental retardation in seemingly balanced chromosome rearrangements...
  2. ncbi request reprint Trisomy 2 due to a 3:1 segregation in an abortion studied by QF-PCR and CGH
    Isabel Lorda-Sanchez
    Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
    Prenat Diagn 25:934-8. 2005
    ..We propose QF-PCR in addition to CGH as an efficient diagnostic method to improve our knowledge of unbalanced offspring in balanced translocation carriers...
  3. ncbi request reprint Turner phenotype in a girl with a 45,X/46,XX/47,XX,+18 mosaicism
    Isabel Lorda-Sanchez
    Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
    Am J Med Genet A 121:20-4. 2003
    ..A biparental origin of the X-alleles in the trisomic cells were determined, being the paternal allele retained in the 45,X cells. The possible mechanism of formation implying meiotic and/or mitotic errors is discussed...
  4. ncbi request reprint Aniridia as part of a WAGR syndrome in a girl whose brother presented hypospadias
    I Lorda-Sanchez
    Departmento de Genetica, Fundacion Jimenez Diaz, Madrid, Spain
    Genet Couns 13:171-7. 2002
    ....
  5. ncbi request reprint Detection of a paternally inherited fetal mutation in maternal plasma by the use of automated sequencing
    Ana Bustamante-Aragones
    Department of Genetics, Fundacion Jimenez Diaz, Avda Catolicos 2, 2840 Madrid, Spain
    Ann N Y Acad Sci 1075:108-17. 2006
    ..The automated sequencing enables the possibility of analyzing fetal sequences, at a nucleotide level, in order to detect mutations or polymorphisms which are distinguishable from maternal sequences...
  6. ncbi request reprint Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa
    Maria Garcia-Hoyos
    Department of Medical Genetics, Fundacion Jimenez Diaz, Madrid, Spain
    Invest Ophthalmol Vis Sci 47:3777-82. 2006
    ..Five XLRP loci have been mapped, although only two genes, RPGR (for RP3) and RP2, have been cloned. In this study, 30 unrelated XLRP Spanish families were screened to determine the molecular cause of the disease...
  7. ncbi request reprint Application of fetal DNA detection in maternal plasma: a prenatal diagnosis unit experience
    Cristina Gonzalez-Gonzalez
    Fundacion Jimenez Diaz, Genetica, Avda Reyes Catolicos 2, Madrid, 28040, Spain
    J Histochem Cytochem 53:307-14. 2005
    ..The detection of fetal DNA sequences is a reality and could reduce the risk of invasive techniques for certain fetal disorders in the near future...
  8. 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)...
  9. ncbi request reprint Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages
    Dan Diego-Alvarez
    Fundacion Jimenez Diaz Human Genetics, Avda Reyes Catolicos, Madrid, Spain
    Hum Reprod 20:1235-43. 2005
    ..Since cytogenetic studies show high rates of failure, we have incorporated the quantitative fluorescent polymerase chain reaction (QF-PCR) technique to the study of numerical chromosome anomalies in miscarriages...
  10. doi request reprint New type of mutations in three spanish families with choroideremia
    Maria Garcia-Hoyos
    Department of Genetics, CIBER ER, Fundacion Jimenez Diaz, Madrid, Spain
    Invest Ophthalmol Vis Sci 49:1315-21. 2008
    ..The authors screened 20 Spanish families with clinical diagnoses of CHM to determine the molecular cause of the disease...
  11. ncbi request reprint Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion
    Victor Martinez-Glez
    Genetic Service, Fundacion Jimenez Diaz, Madrid, Spain
    Eur J Med Genet 50:120-7. 2007
    ..We conclude that the ARS variant belongs to the ARS phenotypic spectrum, which includes flattened femoral epiphyses as a feature...
  12. ncbi request reprint Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach
    Dan Diego-Alvarez
    Human Genetics, Fundacion Jimenez Diaz, Avda Reyes Catolicos 2, 28040, Madrid, Spain
    Hum Reprod 21:958-66. 2006
    ....
  13. doi request reprint [Holt-Oram syndrome: study of 7 cases]
    Mónica Martínez-García
    Servicio de Genetica, Fundacion Jimenez Diaz, Madrid, Espana
    Med Clin (Barc) 135:653-7. 2010
    ..About 85% of the affected patients present de novo mutations in the TBX5 gene. The aim of this study is to propose a molecular strategy to diagnose patients with clinical suspicion of HOS...
  14. 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...
  15. ncbi request reprint MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages
    Dan Diego-Alvarez
    Genetics Service, Fundacion Jimenez Diaz CIBERER, Spain
    Prenat Diagn 27:765-71. 2007
    ....