Cristina Gonzalez GonzalezSummaryCountry: Spain Publications
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Publications
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)...
