Research Topics
Species | Isabel Lorda-SanchezSummaryCountry: Spain Publications
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Detail Information
Publications
Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded childI 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...- Aniridia as part of a WAGR syndrome in a girl whose brother presented hypospadiasI Lorda-Sanchez
Departmento de Genetica, Fundacion Jimenez Diaz, Madrid, Spain
Genet Couns 13:171-7. 2002.... - Turner phenotype in a girl with a 45,X/46,XX/47,XX,+18 mosaicismIsabel 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... - Trisomy 2 due to a 3:1 segregation in an abortion studied by QF-PCR and CGHIsabel 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... - 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... - Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosaMaria 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... - 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)...- Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletionVictor 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... - Double trisomy in spontaneous miscarriages: cytogenetic and molecular approachDan Diego-Alvarez
Human Genetics, Fundacion Jimenez Diaz, Avda Reyes Catolicos 2, 28040, Madrid, Spain
Hum Reprod 21:958-66. 2006.... - 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... 
New type of mutations in three spanish families with choroideremiaMaria 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...- [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... - Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVRRosa Riveiro-Alvarez
Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
Mol Vis 11:705-12. 2005..In fact, the same mutation may be responsible for different phenotypes. We speculate that there might be other molecular factors that interact in the retina with Norrin, which contribute to the resultant phenotypes... - MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriagesDan Diego-Alvarez
Genetics Service, Fundacion Jimenez Diaz CIBERER, Spain
Prenat Diagn 27:765-71. 2007....