Cristina Gonzalez Gonzalez
- Application of fetal DNA detection in maternal plasma: a prenatal diagnosis unit experienceCristina 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...
- Improvement in strategies for the non-invasive prenatal diagnosis of Huntington diseaseM Cristina González-González
Department of Genetics, Fundacion Jimenez Diaz, Avda Reyes Catolicos, 2, 28040 Madrid, Spain
J Assist Reprod Genet 25:477-81. 2008..We focused on the improvements of prenatal diagnosis by the analysis of DNA from maternal plasma, using Huntington disease as a model of disease...
- Detection of a paternally inherited fetal mutation in maternal plasma by the use of automated sequencingAna 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...
- Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriagesDan 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...
- Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosisAna 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)...