Research Topics
Species | Josep EgozcueSummaryCountry: Spain Publications
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Publications
Preimplantation genetic diagnosisJ Egozcue
Unitat de Biologia Cel lular, Universitat Autonoma de Barcelona, Edifici Cs, 08193, Bellaterra, Spain
Mol Cell Endocrinol 166:21-5. 2000..Healthy embryos are transferred on day 4 or at the blastocyst stage. By now, several hundred healthy children have been born using PGD, and only one diagnostic error has been reported...
Meiotic abnormalities in infertile malesJ Egozcue
Departament de Biologia Cellular, Fisiologia i Immunologia, Universitat Autonoma de Barcelona, Bellaterra, Barcelona, Spain
Cytogenet Genome Res 111:337-42. 2005..The clinical consequences are the production of abnormal spermatozoa that will produce a higher number of chromosomally abnormal embryos. The indications for a meiotic study in testicular biopsy are provided...
Preimplantation social sexing: a problem of proportionality and decision makingJ Egozcue
Department of Cell Biology, Universitat Autonoma de Barcelona, Bellaterra, Spain
J Assist Reprod Genet 19:440-2. 2002..In this case, proportionality between means and ends is missing, and cultural reasons should not be accepted to justify its use...
Preimplantation genetic screening and human implantationJosep Egozcue
Department of Cell Biology, Universitat Autonoma de Barcelona, Edifici Cs, 08193 Bellaterra, Spain
J Reprod Immunol 55:65-72. 2002..Attempts to decrease the birth of trisomic children to older women are difficult to evaluate. This absence of relevant results is not related to the technique itself, which is quite safe, but to other still largely unknown factors...
Genetic analysis of sperm and implications of severe male infertility--a reviewJ Egozcue
Department of Cell Biology, Physiology and Immunology, Universitat Autonoma de Barcelona, 08193 Bellaterra, Spain
Placenta 24:S62-5. 2003..Testicular sperm show extremely high rates of chromosomal abnormalities. The risk of recurrent abortion is increased by the presence of chromosome abnormalities in sperm...
Comprehensive measurement of chromosomal instability in cancer cells: combination of fluorescence in situ hybridization and cytokinesis-block micronucleus assayJordi Camps
Departament de Biologia Cellular, Fisiologia i Immunologia and Institut de Biotecnologia i de Biomedicina, Universitat Autonoma de Barcelona, Bellaterra, Spain
FASEB J 19:828-30. 2005....
Postreplicative joining of DNA double-strand breaks causes genomic instability in DNA-PKcs-deficient mouse embryonic fibroblastsMarta Martin
Department of Cell Biology, Physiology, and Immunology, Institute of Biotechnology and Biomedicine, Universitat Autonoma de Barcelona, Bellaterra, Spain
Cancer Res 65:10223-32. 2005..The preponderance of sister chromatid fusion as a product of incorrect joining points to a possible defect in S-phase arrest and emphasizes proximity in these misrepair events...
Synapsis and meiotic recombination analyses: MLH1 focus in the XY pair as an indicatorMontserrat Codina-Pascual
Unitat de Biologia i Genètica Mèdica, Departament de Biologia Cel lular, Fisiologia i Immunologia, Unitat de Bioestadistica, Facultat de Medicina, Universitat Autonoma de Barcelona, 08193 Bellaterra, Spain
Hum Reprod 20:2133-9. 2005..Anomalies in meiotic prophase I have been related to partial or total meiotic arrest. These anomalies include an abnormal synaptic process, resulting in disorders in meiotic recombination...
Common pattern of unusual chromosome abnormalities in hereditary papillary renal carcinomaEsther Prat
Institut de Biotecnologia i Biomedicina, Departament de Biologia Cel lular, Fisiologia i Immunologia, Universitat Autonoma de Barcelona, Bellaterrra, Barcelona 08193, Spain
Cancer Genet Cytogenet 164:142-7. 2006....
Telomere dysfunction drives chromosomal instability in human mammary epithelial cellsDavid Soler
Unitat de Biologia Cellular, Departament de Biologia Cellular, Fisiologia i Immunologia, , 08193 Bellaterra, Spain
Genes Chromosomes Cancer 44:339-50. 2005..This article contains Supplementary Material available at http://www.interscience.wiley.com/jpages/1045-2257/suppmat...
Genomic imbalances in urothelial cancer: intratumor heterogeneity versus multifocalityEsther Prat
Institut de Biotecnologia i Biomedicina, Department de Biologia Cellular, Universitat Autonoma de Barcelona, Bellaterra 08193, Barcelona, Spain
Diagn Mol Pathol 17:134-40. 2008....
Repair of DNA broken ends is similar in embryonic fibroblasts with and without telomeraseLaura Latre
Department of Cell Biology, Physiology and Immunology, Institute of Biotechnology and Biomedicine, , , Spain
Radiat Res 162:136-42. 2004..All together, our results indicate that there is no significant involvement of telomerase in the healing of broken DNA ends by synthesizing new telomeres in mouse embryo fibroblasts after exposure to ionizing radiation...
Genetic reproductive risk in inversion carriersEster Anton
Unitat de Biologia Cellular, , , Bellaterra, Spain
Fertil Steril 85:661-6. 2006..CONCLUSION(S): Inversions have a well-defined reproductive effect on carriers. Carriers of inversions up to 100 Mbp have a low [corrected] reproductive risk and would not usually benefit from preimplantation genetic diagnosis...
Capping of radiation-induced DNA breaks in mouse early embryosLaura Tusell
Unitat de Biologia Cellular, Departament de Biologia Cellular, Fisiologia i Immunologia, Universitat Autonoma de Barcelona, Bellaterra, Spain
J Radiat Res 45:415-22. 2004..The presence of additional telomere signals at the broken chromosome ends in mouse germ cells and early embryos, compatible with de novo formation of telomeres, was not frequent...
Reliability of comparative genomic hybridization to detect chromosome abnormalities in first polar bodies and metaphase II oocytesCristina Gutiérrez-Mateo
Departament de Biologia Cel lular, Fisiologia i Immunologia, Unitat de Medicina, Universitat Autonoma de Barcelona, E 08193 Bellaterra, Spain
Hum Reprod 19:2118-25. 2004..However, the number of chromosomes that can be analyzed is a clear limitation. We evaluate the reliability of using comparative genomic hybridization (CGH) to detect the whole set of chromosomes, as an alternative to PGD using FISH...
FISH studies of chromosome abnormalities in germ cells and its relevance in reproductive counselingZaida Sarrate
Cell Biology Unit, Department of Cell Biology, Physiology and Immunology, Science Faculty, Autonomous University of Barcelona, Bellaterra 08193, Spain
Asian J Androl 7:227-36. 2005..Furthermore, the incorporation of novel FISH-based techniques (Multiplex-FISH; Multi-FISH) in male infertility studies is also discussed...
Analysis of kidney tumors by comparative genomic hybridization and conventional cytogeneticsMaria Angels Rigola
Institut de Biotecnologia i Biomedicina, , Bellaterra, Spain
Cancer Genet Cytogenet 137:49-53. 2002..However, in tumors with several composite clones some discrepancies were observed, especially in cases of clear-cell RCC where chromosomal abnormalities present in a low number of metaphases could not be detected by CGH...
Genetic evolution in colon cancer KM12 cells and metastatic derivatesJordi Camps
Laboratori de Citogenètica, Institut de Biotecnologia i de Biomedicina, Universitat Autonoma de Barcelona, 08193 Bellaterra, Barcelona, Spain
Int J Cancer 110:869-74. 2004..Therefore, we demonstrate that KM12C cells and their metastatic derivates, KM12SM and KM12L4A, are a useful model of chromosomal evolution where MSI may coexist with CIN...
Outcome of intracytoplasmic sperm injection in relation to the meiotic pattern in patients with severe oligoasthenozoospermiaBegoña Aran
Departament d Obstetricia i Ginecologia, Servei de Medicina de la Reproducció, Institut Universitari Dexeus, Barcelona, Spain
Fertil Steril 80:91-5. 2003..The aim of the study was to evaluate the intracytoplasmic sperm injection outcome in a selected group of patients with oligoasthenozoospermia in relation to the results obtained from their meiotic analysis...
Molecular cytogenetic characterisation of the colorectal cancer cell line SW480Jordi Camps
Departament de Biologia Cellular, Fisiologia i Immunologia and Institut de Biotecnologia i de Biomedicina, , 08193 Bellaterra, Spain
Oncol Rep 11:1215-8. 2004..In conclusion, here we present the first comprehensive characterisation of the complex karyotype of the colorectal cancer cell line SW480...
Genome-wide differences between microsatellite stable and unstable colorectal tumorsJordi Camps
Laboratory of Cytogenetics, Departament de Biologia Cellular, Fisiologia i Immunologia and Institut de Biotecnologia i de Biomedicina, , 08193 Bellaterra, Spain
Carcinogenesis 27:419-28. 2006..As a conclusion, colorectal cancer is a heterogeneous disease, demonstrated by the genomic profiles of individual samples. However, our data shows that copy number changes do not occur exclusively in the MSS phenotypes...
Meiotic behavior of the sex chromosomes in a 45,X/46,X,r(Y)/46,X,dic r(Y) patient whose semen was assessed by fluorescence in situ hybridizationJoan Blanco
Unitat de Biologia Cel lular, Facultat de Ciencies, Universitat Autonoma de Barcelona, Bellaterra, Spain
Fertil Steril 79:913-8. 2003..To determine the meiotic behavior of a ring Y chromosome in a semen sample from a 45,X/46,X,r(Y)/46,X,dic r(Y) patient and the possible interchromosomal effects of the ring on other chromosome pairs...
Shortened telomeres join to DNA breaks interfering with their correct repairLaura Latre
Department of Cell Biology, Physiology, and Immunology, and Institute of Biotechnology and Biomedicine, , , Spain
Exp Cell Res 287:282-8. 2003....
Conservation of aphidicolin-induced fragile sites in Papionini (Primates) species and humansAurora Ruiz-Herrera
Departament de Biologia Cel lular, Fisiologia i Immunologia, Universitat Autonoma de Barcelona, 08193, Barcelona, Spain
Chromosome Res 12:683-90. 2004..The present comparative BAC/YAC mapping data represent, up to now, the most precise evidence of fragile site conservation during primate evolution...
Karyotyping of human synaptonemal complexes by cenM-FISHMaria Oliver-Bonet
Unitat de Biologia, Facultat de Medicina, Departament de Biologia Cel lular, Fisiologia i d Immunologia, Universitat Autonoma de Barcelona, Bellaterra 08193, Spain
Eur J Hum Genet 11:879-83. 2003..Moreover, when cenM-FISH is applied after immunocytogenetic analysis, the number and distribution of MLH1 foci per chromosome can be established and recombination analysis for each chromosome can be performed easily...
Primary amenorrhea in a woman with a cryptic complex chromosome rearrangement involving the critical regions Xp11.2 and Xq24Cristina Hernando
Departament Biologia Cellular, Fisiologia i Immunologia, Facultat de Medicina, , Barcelona, Spain
Fertil Steril 82:1666-71. 2004..These techniques also were useful in defining two possible critical chromosome regions, Xp11.21 and Xq24, in which genes of potential interest for a primary amenorrhea could be located...
Chromosomal instability in amniocytes from fetuses of mothers who smokeRosa Ana de la Chica
Departament de Biologia Cellular, Fisiologia i Immunologia, Facultat de Medicina, , Bellaterra, Spain
JAMA 293:1212-22. 2005..Band 11q23, known to be involved in leukemogenesis, seems especially sensitive to genotoxic compounds contained in tobacco...
Analysis of nine chromosome probes in first polar bodies and metaphase II oocytes for the detection of aneuploidiesAïda Pujol
Departament de Biologia Cel lular, Fisiologia i Immunologia, Unitat de Biologia, Facultat de Medicina, Universitat Autonoma de Barcelona, E 08193 Bellaterra, Barcelona, Spain
Eur J Hum Genet 11:325-36. 2003..Analysis of 1PBs to select euploid oocytes could help patients of advanced age undergoing in vitro fertilization (IVF) treatment...
A comparative genomic hybridization study in a 46,XX maleM Angels Rigola
Unitat de Biologia, Departament de Biologia Cellular, Fisiologia i Immunologia, Facultat de Medicina, , Barcelona, Spain
Fertil Steril 78:186-8. 2002....
Preferential alternate segregation in the common t(11;22)(q23;q11) reciprocal translocation: sperm FISH analysis in two brothersEster Anton
Unitat de Biologia Cellular, , , , Spain
Reprod Biomed Online 9:637-44. 2004..FISH segregation and interchromosomal effects studies in spermatozoa are encouraged to gather information to establish the best approach for preimplantational genetic diagnosis in reorganization carriers...
Identification of meiotic anomalies with multiplex fluorescence in situ hybridization: Preliminary resultsZaida Sarrate
Unitat de Biologia Cel.lular, , , Bellaterra 08193, Spain
Fertil Steril 82:712-7. 2004..Nondisjunctional errors or small reorganizations overlooked in classic meiotic preparations were identified. Synaptic anomalies seem to affect meiotic bivalents at random...
Combination of toluidine blue staining and in situ hybridization to evaluate paraffin tissue sectionsEsther Prat
Cancer Genet Cytogenet 155:89-91. 2004
