Research Topics
Species | Joyce HarperSummaryAffiliation: University College London Country: UK Publications
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Publications
When and how should new technology be introduced into the IVF laboratory?Joyce Harper
UCL Centre for PG and D, Institute for Womens Health, UCL and Centre for Reproductive and Genetic Health, University College London Hospital, London, UK
Hum Reprod 27:303-13. 2012..All IVF clinics need to consider the safety and efficacy of new technologies before introducing them...- The ESHRE PGD Consortium: 10 years of data collectionJ C Harper
UCL Centre for PG and D, Institute for Women s Health, University College London, London, UK
Hum Reprod Update 18:234-47. 2012..Since it was established in 1997, the ESHRE PGD Consortium has been collecting data from international preimplantation genetic diagnosis (PGD) centres. Ten papers have been published, including data from January 1997 to December 2007... 
Recent advances and future developments in PGDJ C Harper
Department of Obstetrics and Gynaecology, UCL, London, U K
Prenat Diagn 19:1193-9. 1999..These methods will hopefully enable more accurate and a greater number of diseases to be diagnosed at the single cell level...- ESHRE PGD Consortium data collection V: cycles from January to December 2002 with pregnancy follow-up to October 2003J C Harper
UCL Centre for PGD, Department of Obstetrics and Gynecology, University College London, 86 96 Chenies Mews, London WC1E 6HX, UK
Hum Reprod 21:3-21. 2006..Data collection V is compared with the previous cumulative data collection (I-IV), which comprised 4058 PGD/PGS cycles that reached oocyte retrieval... - What next for preimplantation genetic screening?Joyce Harper
UCL Centre for PGD, Institute for Women s Health, University College London, 86 96 Chenies Mews, WC1E6HX London, UK
Hum Reprod 23:478-80. 2008..The debate on the usefulness of PGS is ongoing; the only effective way to resolve the debate is to perform more well-designed and well-executed randomized clinical trials... - Genetics of gametes and embryosJoyce C Harper
Department of Obstetrics and Gynaecology, University College London, 86 96 Chenies Mews, London WC1E 6HX, UK
Eur J Obstet Gynecol Reprod Biol 115:S80-4. 2004..For patients at risk of transmitting a specific genetic or chromosomal abnormality, 1-2 blastomeres are biopsied from embryos and specific genes or chromosomes analysed. Normal embryos are then transferred to the uterus... - Pre-implantation genetic diagnosisJoyce C Harper
UCL Centre for Pre implantation Genetic Diagnosis, Department of Obstetrics and Gynaecology, University College London, UK
Best Pract Res Clin Obstet Gynaecol 16:659-70. 2002..The ethical implications of pre-implantation genetic diagnosis are immense as the technique has already been used for social sexing and human leukocyte antigen matching... - ESHRE PGD consortium data collection VII: cycles from January to December 2004 with pregnancy follow-up to October 2005J C Harper
UCL Centre for PGD, Institute for Women s Health, University College London, 86 96 Chenies Mews, WC1E6HX London, UK
Hum Reprod 23:741-55. 2008..Data VII is compared with the cumulative data for data collections I-VI... - Preimplantation genetic diagnosis for single gene disorders: experience with five single gene disordersJoyce C Harper
Department of Obstetrics and Gynaecology, University College London, London, UK
Prenat Diagn 22:525-33. 2002.... - Accreditation of the PGD laboratoryJ C Harper
UCL Centre for PG and D, Institute for Women s Health, University College London, 86 96 Chenies Mews, London WC1E 6HX, UK
Hum Reprod 25:1051-65. 2010..The focus is on the European environment although the principles are globally applicable... - What next for preimplantation genetic screening (PGS)? A position statement from the ESHRE PGD Consortium Steering CommitteeJoyce Harper
UCL Centre for PG and D, Institute for Women s Health, University College London, 86 96 Chenies Mews, WC1E6HX London, UK
Hum Reprod 25:821-3. 2010..To evaluate benefits of PGS, an ESHRE trial has recently been started on patients with AMA using polar body biopsy and array-comparative genomic hybridization, which should bring more information on this patient group in the near future... - The use of arrays in preimplantation genetic diagnosis and screeningJoyce C Harper
Human Genetics and Embryology, University College London Centre for Preimplantation Genetics and Diagnosis, Institute for Women s Health, University College London Hospital, London, United Kingdom
Fertil Steril 94:1173-7. 2010..Each array can determine the number of chromosomes, however, SNP-based arrays can also be used to haplotype the sample... - ESHRE PGD Consortium data collection X: cycles from January to December 2007 with pregnancy follow-up to October 2008J C Harper
UCL Centre for PG and D, Institute for Women s Health, University College London, 86 96 Chenies Mews, London, UK
Hum Reprod 25:2685-707. 2010..Data X is compared with the cumulative data for data collections I-IX... - Preimplantation genetic diagnosis: state of the art 2011Joyce C Harper
UCL Centre for PG and D, Institute for Womens Health, University College London, London, UK
Hum Genet 131:175-86. 2012..For PGS, RCTs need to be conducted using both array-CGH and SNP arrays to determine if either will result in an increase in delivery rates... - Preimplantation genetic diagnosisJ C Harper
University College London Centre for Preimplantation Genetic Diagnosis, Department of Obstetrics and Gynaecology, University College London, UK
Curr Opin Obstet Gynecol 12:67-72. 2000..Technical difficulties have arisen with preimplantation genetic diagnosis, such as allele dropout and chromosomal mosaicism. However, it is hoped that these difficulties can be overcome in the future with the advent of new techniques... - Preimplantation genetic diagnosis for myotonic dystrophy type 1: detection of crossover between the gene and the linked marker APOC2Georgia Kakourou
UCL Centre for Preimplantation Genetic Diagnosis, Department of Obstetrics and Gynaecology, University College London, UK
Prenat Diagn 27:111-6. 2007..To report two cases of preimplantation genetic diagnosis (PGD) for myotonic dystrophy type I (DM1) where cross-over between the DMPK locus and a linked polymorphic marker APOC2 was detected... 
Multiple meiotic errors caused by predivision of chromatids in women of advanced maternal age undergoing in vitro fertilisationAlan H Handyside
London Bridge Fertility, Gynaecology and Genetics Centre, London, UK
Eur J Hum Genet 20:742-7. 2012..Furthermore, most abnormal zygotes had multiple aneuploidies. These differences in the aetiology of aneuploidy in IVF compared with natural conception may indicate a role for ovarian stimulation in perturbing meiosis in ageing oocytes...- Preimplantation genetic diagnosis of chromosome abnormalities: implications from the outcome for couples with chromosomal rearrangementsM Simopoulou
UCL Centre for Preimplantation Genetic Diagnosis and Assisted Conception Unit, Department of Obstetrics and Gynaecology, University College London, London, UK
Prenat Diagn 23:652-62. 2003.... - The effect of GM-CSF on development and aneuploidy in murine blastocystsAisha Elaimi
Institute for Women s Health, University College London, London, UK
Hum Reprod 27:1590-5. 2012..The purpose of this study is to investigate whether adding GM-CSF to the culture media affects blastulation or the chromosomal status of mouse embryos... - Detection of aneuploidy by array comparative genomic hybridization using cell lines to mimic a mosaic trophectoderm biopsyThalia Mamas
UCL Centre for PGD, Institute for Women s Health, University College London, London, United Kingdom
Fertil Steril 97:943-7. 2012..To examine the effect of mosaicism in the array comparative genomic hybridization result during preimplantation genetic screening after blastocyst biopsy... - Evaluation of array comparative genomic hybridization for genetic analysis of chorionic villus sampling from pregnancy loss in comparison to karyotyping and multiplex ligation-dependent probe amplificationMaitreyee Deshpande
UCL Centre for PG and D, Institute for Women s Health, University College London, London, United Kingdom
Genet Test Mol Biomarkers 14:421-4. 2010..It was determined which technique gave the most valuable information... - Pregnancy following preimplantation genetic diagnosis for Crouzon syndromeP M Abou-Sleiman
UCL Centre for Preimplantation Genetic Diagnosis and the Assisted Conception Unit, Department of Obstetrics and Gynaecology, University College London, 86 96 Chenies Mews, London WC1E 6HX, UK
Mol Hum Reprod 8:304-9. 2002..All of the cells showed expected genotypes at the D21S11 locus with only one incidence of allele drop-out. A total of five embryos were transferred, two in the first cycle and three in the second, resulting in a singleton pregnancy... - FISH analysis on day 5 post-insemination of human arrested and blastocyst stage embryosP Ruangvutilert
Department of Obstetrics and Gynaecology, University College London, UK
Prenat Diagn 20:552-60. 2000..For PGD, this high prevalence of mosaicism persisting to the blastocyst stage may pose problems similar to mosaicism in cleavage stage embryos... - Analysis of the evolution of chromosome abnormalities in human embryos from Day 3 to 5 using CGH and FISHD D Daphnis
UCL Centre for Preimplantation Genetic Diagnosis, Department of Obstetrics and Gynaecology, University College London, 86 96 Chenies Mews, London WC1E 6HX, UK
Mol Hum Reprod 14:117-25. 2008..The main two mechanisms identified were whole or partial chromosome loss and gain. These were observed in embryos examined on both Day 3 and 5... - Detailed FISH analysis of day 5 human embryos reveals the mechanisms leading to mosaic aneuploidyD D Daphnis
UCL Centre for Preimplantation Genetic Diagnosis, Department of Obstetrics and Gynaecology, University College London, 86-96 Chenies Mews, London, WC1E 6HX, UK
Hum Reprod 20:129-37. 2005..CONCLUSIONS: Post-zygotic chromosome loss was the most common mechanism leading to aneuploidy mosaicism for both groups, followed by chromosome gain, with fewer examples of mitotic non-disjunction... - Relative efficiency of FISH on metaphase and interphase nuclei from non-mosaic trisomic or triploid fibroblast culturesP Ruangvutilert
Department of Obstetrics and Gynaecology, University College London, London, UK
Prenat Diagn 20:159-62. 2000..In the case of preimplantation diagnosis, the accuracy can be improved by the use of two probes per chromosome or by the analysis of two cells from each embryo... - Variable aneuploidy mechanisms in embryos from couples with poor reproductive histories undergoing preimplantation genetic screeningA Mantzouratou
Department of Obstetrics and Gynaecology, University College London Centre for Preimplantation Genetic Diagnosis, and The Assisted Conception Unit, University College London Hospitals Foundation Trust, UK
Hum Reprod 22:1844-53. 2007..Preimplantation genetic screening (PGS) is used to determine the chromosome status of human embryos from patients with advanced maternal age (AMA), recurrent miscarriage (RM) or repeated implantation failure (RIF)... - A successful strategy for preimplantation diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiencyA Ioulianos
UCL Centre for Preimplantation Genetic Diagnosis, Department of Obstetrics and Gynaecology, University College London, 86 96 Chenies Mews, London WC1E 6HX, UK
Prenat Diagn 20:593-8. 2000..The embryos generated through IVF arrested on day two post-insemination and consequently none were available for transfer; all available blastomeres were used to confirm the accuracy and reliability of the diagnostic assays... - First application of preimplantation genetic diagnosis to neurofibromatosis type 2 (NF2)P M Abou-Sleiman
UCL Centre for Preimplantation Genetic Diagnosis, Department of Obstetrics and Gynaecology, University College London, 86 96 Chenies Mews, London WC1E 6HX, UK
Prenat Diagn 22:519-24. 2002..Out of a total of 32 embryos tested only four were found not to carry the mutation. The reasons for this apparent skew remain unknown... - Preimplantation genetic diagnostic protocols for alpha- and beta-thalassaemias using multiplex fluorescent PCRW Piyamongkol
UCL Centre for Preimplantation Genetic Diagnosis, Department of Obstetrics and Gynaecology, University College London, London, UK
Prenat Diagn 21:753-9. 2001..The close similarity between the DNA sequences of beta-globin and delta-globin was also found to be an important issue that necessitated careful design of primers for the beta-globin gene... - Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markersA Apessos
UCL Centre for PGD, Department of Obstetrics and Gynaecology, University College London, 86 96 Chenies Mews, London WC1E 6HX, UK
Prenat Diagn 21:504-11. 2001..Use of this approach is accurate and applicable to a larger number of patients at risk of transmitting fragile X to their offspring... - Comparative genomic hybridization analysis of human oocytes and polar bodiesE Fragouli
Department of Obstetrics and Gynaecology, UCL Centre for Preimplantation Genetic Diagnosis, University College London, London, UK
Hum Reprod 21:2319-28. 2006..We optimized and evaluated a CGH protocol for the chromosomal analysis of first polar bodies (PBs) and oocytes. The protocol was then employed to obtain a detailed picture of meiosis I errors in human oogenesis... - A successful strategy for preimplantation genetic diagnosis of myotonic dystrophy using multiplex fluorescent PCRW Piyamongkol
UCL Centre for Preimplantation Genetic Diagnosis and the Assisted Conception Unit, Department of Obstetrics and Gynaecology, University College London, 86-96 Chenies Mews, London WC1E 6HX, UK
Prenat Diagn 21:223-32. 2001..This paper reports the first clinical experience and pregnancies following PGD for DM using a multiplex fluorescent PCR protocol... - Preimplantation genetic diagnosisThe-Hung Bui
Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Hospital, Stockholm, Sweden
Clin Obstet Gynecol 45:640-8; discussion 730-2. 2002 - Preimplantation genetic diagnosis for myotonic dystrophy type 1 in the UKGeorgia Kakourou
Institute for Women s Health, UCL Centre for Preimplantation Genetics, 86 96 Chenies Mews, London WC1E 6HX, UK
Neuromuscul Disord 18:131-6. 2008..This paper reviews the largest number of cycles of PGD for DM1 in the UK indicating that PGD is a practical option for affected couples... - Complete cytogenetic investigation of oocytes from a young cancer patient with the use of comparative genomic hybridisation reveals meiotic errorsElpida Fragouli
UCL Centre for Preimplantation Genetic Diagnosis, Department of Obstetrics and Gynaecology, 86 96 Chenies Mews, University College London, London, WC1E 6HX, UK
Prenat Diagn 26:71-6. 2006..The complete cytogenetic investigation of human oocytes and the corresponding first polar bodies (PBs) derived from an 18-year old female cancer patient...