Ana Bustamante-Aragones

Summary

Country: Spain

Publications

  1. doi request reprint Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers
    A Bustamante-Aragones
    Department of Genetics, Fundacion Jimenez Diaz Capio, CIBERER, Madrid, Spain
    Haemophilia 14:593-8. 2008
  2. 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
  3. doi request reprint New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma
    Ana Bustamante-Aragones
    Department of Genetics Fundacion Jimenez Diaz Capio, CIBERER 28040 Madrid, Spain
    J Cyst Fibros 7:505-10. 2008
  4. doi request reprint Prenatal diagnosis in maternal plasma of a fetal mutation causing propionic acidemia
    Ana Bustamante-Aragones
    Department of Genetics, Fundacion Jimenez Diaz Capio, CIBERER, Madrid, Spain
    Mol Genet Metab 95:101-3. 2008
  5. doi request reprint Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study
    A Bustamante-Aragones
    Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
    Eur J Neurol 15:1338-44. 2008
  6. doi request reprint Noninvasive prenatal diagnosis using ccffDNA in maternal blood: state of the art
    Ana Bustamante-Aragones
    Department of Genetics, Fundacion Jimenez Diaz Capio, Avda Reyes Catolicos, 2 28040, Madrid, Spain
    Expert Rev Mol Diagn 10:197-205. 2010
  7. 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
  8. doi request reprint Noninvasive prenatal diagnosis of monogenic disorders
    Marta Rodriguez de Alba
    Genetics Department, Fundacion Jimenez Diaz, Avda Reyes Católicos n 2, Madrid 28040, Spain
    Expert Opin Biol Ther 12:S171-9. 2012
  9. ncbi request reprint Non-invasive prenatal diagnosis of single-gene disorders from maternal blood
    Ana Bustamante-Aragones
    Genetics Service, Fundación Jiménez Diaz IIS, Avda Reyes Catolicos, 2 28040, Madrid, Spain
    Gene 504:144-9. 2012
  10. 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

Collaborators

Detail Information

Publications10

  1. doi request reprint Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers
    A Bustamante-Aragones
    Department of Genetics, Fundacion Jimenez Diaz Capio, CIBERER, Madrid, Spain
    Haemophilia 14:593-8. 2008
    ..Reliable foetal gender determination from maternal blood of pregnant women carriers of haemophilia in the first trimester of gestation can avoid more conventional, invasive methods of prenatal diagnosis...
  2. 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)...
  3. doi request reprint New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma
    Ana Bustamante-Aragones
    Department of Genetics Fundacion Jimenez Diaz Capio, CIBERER 28040 Madrid, Spain
    J Cyst Fibros 7:505-10. 2008
    ..Here, we present a new strategy for the detection of fetal mutations causing CF in maternal plasma...
  4. doi request reprint Prenatal diagnosis in maternal plasma of a fetal mutation causing propionic acidemia
    Ana Bustamante-Aragones
    Department of Genetics, Fundacion Jimenez Diaz Capio, CIBERER, Madrid, Spain
    Mol Genet Metab 95:101-3. 2008
    ..In this work, we have correctly diagnosed in maternal plasma the status of a fetus at risk of PA for the paternal mutation...
  5. doi request reprint Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study
    A Bustamante-Aragones
    Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
    Eur J Neurol 15:1338-44. 2008
    ..The presence of cell-free fetal DNA in maternal plasma could allow performing a non-invasive prenatal diagnosis of Huntington disease (HD). The great advantage of this diagnosis is the absence of risk of fetal loss that it entails...
  6. doi request reprint Noninvasive prenatal diagnosis using ccffDNA in maternal blood: state of the art
    Ana Bustamante-Aragones
    Department of Genetics, Fundacion Jimenez Diaz Capio, Avda Reyes Catolicos, 2 28040, Madrid, Spain
    Expert Rev Mol Diagn 10:197-205. 2010
    ..However, new discoveries and technology are making NIPD a real option for patients and providing for an array of clinical applications, such as molecular studies in high-risk families, general screening and pregnancy management...
  7. 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...
  8. doi request reprint Noninvasive prenatal diagnosis of monogenic disorders
    Marta Rodriguez de Alba
    Genetics Department, Fundacion Jimenez Diaz, Avda Reyes Católicos n 2, Madrid 28040, Spain
    Expert Opin Biol Ther 12:S171-9. 2012
    ..As for other Mendelian disorders, until recently, their study was limited to those cases paternally inherited. Nevertheless, the new emerging technologies are also opening the scope to maternally inherited disorders...
  9. ncbi request reprint Non-invasive prenatal diagnosis of single-gene disorders from maternal blood
    Ana Bustamante-Aragones
    Genetics Service, Fundación Jiménez Diaz IIS, Avda Reyes Catolicos, 2 28040, Madrid, Spain
    Gene 504:144-9. 2012
    ..New technologies are opening NIPD to the analysis of maternally inherited fetal tracts. NIPD of trisomy 21 is the latest study derived from the use of next-generation sequencing (NGS)...
  10. 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
    ....