Caroline Mackie Ogilvie Department of Cytogenetics, GSTS-Pathology, Guy’s & St Thomas’ NHS Foundation Trust Guy’s & St Thomas’ Centre for Preimplantation Genetic Diagnosis Biography Publications Institution JoVE Articles Caroline Mackie Ogilvie has not added a biography. If you are Caroline Mackie Ogilvie and would like to personalize this page please email our Author Liaison for assistance. Publications Embryo Selection in IVF: is Polar Body Array Comparative Genomic Hybridization Accurate Enough? Human Reproduction (Oxford, England). Feb, 2012 | Pubmed ID: 22328558 Unexpected Findings in Cancer Predisposition Genes Detected by Array Comparative Genomic Hybridisation: What Are the Issues? Journal of Medical Genetics. Aug, 2011 | Pubmed ID: 21429933 Detection of Mosaicism for Genome Imbalance in a Cohort of 3,042 Clinical Cases Using an Oligonucleotide Array CGH Platform European Journal of Medical Genetics. Mar-Apr, 2011 | Pubmed ID: 21056703 MLPA for Confirmation of Array CGH Results and Determination of Inheritance Molecular Cytogenetics. 2010 | Pubmed ID: 20942916 Safety Paradigm: Genetic Evaluation of Therapeutic Grade Human Embryonic Stem Cells Journal of the Royal Society, Interface / the Royal Society. Dec, 2010 | Pubmed ID: 20826474 FISH for Pre-implantation Genetic Diagnosis Methods in Molecular Biology (Clifton, N.J.). 2010 | Pubmed ID: 20809319 QF-PCR As a Stand-alone Test for Prenatal Samples: the First 2 Years' Experience in the London Region Prenatal Diagnosis. Jun, 2010 | Pubmed ID: 20509149 Validation and Implementation of Array Comparative Genomic Hybridisation As a First Line Test in Place of Postnatal Karyotyping for Genome Imbalance Molecular Cytogenetics. 2010 | Pubmed ID: 20398301 Preimplantation Genetic Diagnosis for a Carrier of a Y;autosome Translocation Resulting in a Healthy Male Offspring Fertility and Sterility. Sep, 2010 | Pubmed ID: 20338558 Heterozygous Deletion of a 2-Mb Region Including the Dystroglycan Gene in a Patient with Mild Myopathy, Facial Hypotonia, Oral-motor Dyspraxia and White Matter Abnormalities European Journal of Human Genetics : EJHG. Jul, 2010 | Pubmed ID: 20234391 Preimplantation Genetic Haplotyping: 127 Diagnostic Cycles Demonstrating a Robust, Efficient Alternative to Direct Mutation Testing on Single Cells Reproductive Biomedicine Online. Apr, 2010 | Pubmed ID: 20144563 Separation of the PROX1 Gene from Upstream Conserved Elements in a Complex Inversion/translocation Patient with Hypoplastic Left Heart European Journal of Human Genetics : EJHG. Nov, 2009 | Pubmed ID: 19471316 A Novel Deletion in Proximal 22q Associated with Cardiac Septal Defects and Microcephaly: a Case Report Molecular Cytogenetics. 2009 | Pubmed ID: 19239688 An Evaluation of the Effectiveness of a Semi-automatic Metaphase Locating and On-screen Karyotyping System Journal of the Association of Genetic Technologists. 2008 | Pubmed ID: 20081315 The Copy Number Variant Involving Part of the Alpha7 Nicotinic Receptor Gene Contains a Polymorphic Inversion European Journal of Human Genetics : EJHG. Nov, 2008 | Pubmed ID: 18545269 Small Supernumerary Marker Chromosomes (sSMC) in Humans; Are There B Chromosomes Hidden Among Them Molecular Cytogenetics. 2008 | Pubmed ID: 18533011 Submicroscopic Chromosome Imbalance in Patients with Developmental Delay And/or Dysmorphism Referred Specifically for Fragile X Testing and Karyotype Analysis Molecular Cytogenetics. 2008 | Pubmed ID: 18471307 Fluorescence in Situ Hybridization on Single Cells. (Sex Determination and Chromosome Rearrangements) Methods in Molecular Medicine. 2007 | Pubmed ID: 17876073 Prevalence of Angelman Syndrome Amongst Referrals with Epilepsy and Developmental Delay American Journal of Medical Genetics. Part A. Sep, 2007 | Pubmed ID: 17676602 Detection of Subtelomere Imbalance Using MLPA: Validation, Development of an Analysis Protocol, and Application in a Diagnostic Centre BMC Medical Genetics. 2007 | Pubmed ID: 17338807 Analysis of a Chromosomally Mosaic Placenta to Assess the Cell Populations in Dissociated Chorionic Villi: Implications for QF-PCR Aneuploidy Testing Prenatal Diagnosis. Mar, 2007 | Pubmed ID: 17323406 Complete Discrepancy Between QF-PCR Analysis of Uncultured Villi and Karyotyping of Cultured Cells in the Prenatal Diagnosis of Trisomy 21 in Three CVS Prenatal Diagnosis. Apr, 2007 | Pubmed ID: 17286305 Determination of the Genetic Status of Cleavage-stage Human Embryos by Microsatellite Marker Analysis Following Multiple Displacement Amplification Prenatal Diagnosis. Mar, 2007 | Pubmed ID: 17262877 Preimplantation Genetic Diagnosis for Monogenic Diseases: Overview and Emerging Issues Expert Review of Molecular Diagnostics. Jan, 2007 | Pubmed ID: 17187482 Novel Deletion Variants of 9q13-q21.12 and Classical Euchromatic Variants of 9q12/qh Involve Deletion, Duplication and Triplication of Large Tracts of Segmentally Duplicated Pericentromeric Euchromatin European Journal of Human Genetics : EJHG. Jan, 2007 | Pubmed ID: 16985501 Proof of Principle and First Cases Using Preimplantation Genetic Haplotyping--a Paradigm Shift for Embryo Diagnosis Reproductive Biomedicine Online. Jul, 2006 | Pubmed ID: 16820122 Multicolor Banding Detects a Complex Three Chromosome, Seven Breakpoint Unbalanced Rearrangement in an ICSI-derived Fetus with Multiple Abnormalities American Journal of Medical Genetics. Part A. May, 2006 | Pubmed ID: 16596677 Prenatal Diagnosis Lancet. Oct, 2005 | Pubmed ID: 16198756 The Future of Prenatal Diagnosis: Rapid Testing or Full Karyotype? An Audit of Chromosome Abnormalities and Pregnancy Outcomes for Women Referred for Down's Syndrome Testing BJOG : an International Journal of Obstetrics and Gynaecology. Oct, 2005 | Pubmed ID: 16167939 Rapid Prenatal Diagnosis of Aneuploidy Using Quantitative Fluorescence-PCR (QF-PCR) The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society. Mar, 2005 | Pubmed ID: 15750003 Preimplantation Genetic Diagnosis--an Overview The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society. Mar, 2005 | Pubmed ID: 15749997 Detection of Mosaicism for Primary Trisomies in Prenatal Samples by QF-PCR and Karyotype Analysis Prenatal Diagnosis. Jan, 2005 | Pubmed ID: 15662691 Maternal Cell Contamination of Prenatal Samples Assessed by QF-PCR Genotyping Prenatal Diagnosis. Jan, 2005 | Pubmed ID: 15662689 Multiplex Ligation-dependent Probe Amplification Using a Completely Synthetic Probe Set BioTechniques. Sep, 2004 | Pubmed ID: 15470894 A New Neocentromere Locus on Chromosome 13 Resulting in Mosaic Tetrasomy for Distal 13q and an Asymmetric Phenotype American Journal of Medical Genetics. Part A. Oct, 2004 | Pubmed ID: 15378552 Preimplantation Genetic Diagnosis (PGD) for Reciprocal Translocations Prenatal Diagnosis. Jul, 2004 | Pubmed ID: 15300748 Strategies for the Rapid Prenatal Diagnosis of Chromosome Aneuploidy European Journal of Human Genetics : EJHG. Nov, 2004 | Pubmed ID: 15292918 Investigation of Chromosomal Imbalance in Human Embryos Using Comparative Genomic Hybridization Reproductive Biomedicine Online. Jun, 2004 | Pubmed ID: 15169589 A Trisomy 2 Fetus with Severe Neural Tube Defects and Other Abnormalities Clinical Dysmorphology. Jan, 2004 | Pubmed ID: 15127760 Deletion of the Distal Long Arm of Chromosome 10; is There a Characteristic Phenotype? A Report of 15 De Novo and Familial Cases American Journal of Medical Genetics. Part A. Dec, 2003 | Pubmed ID: 14598339 Class II Neocentromeres: a Putative Common Neocentromere Site in Band 4q21.2 European Journal of Human Genetics : EJHG. Oct, 2003 | Pubmed ID: 14512964 In Vivo Somatic Microsatellite Mutations Identified in Non-malignant Human Tissue Human Genetics. Dec, 2003 | Pubmed ID: 14505038 Preimplantation Genetic Diagnosis Lancet. Jul, 2003 | Pubmed ID: 12885500 Characterization of Terminal Chromosome Anomalies Using Multisubtelomere FISH American Journal of Medical Genetics. Part A. Aug, 2003 | Pubmed ID: 12884426 Prenatal Diagnosis for Chromosome Abnormalities: Past, Present and Future Pathologie-biologie. Apr, 2003 | Pubmed ID: 12781797 Development and Targeted Application of a Rapid QF-PCR Test for Sex Chromosome Imbalance Prenatal Diagnosis. Mar, 2003 | Pubmed ID: 12627420 Laboratory Diagnosis Lancet. Jan, 2003 | Pubmed ID: 12531594 Strategies and Outcomes of the First 100 Cycles of Preimplantation Genetic Diagnosis at the Guy's and St. Thomas' Center Fertility and Sterility. Jan, 2003 | Pubmed ID: 12524068 Delineation of an Estimated 6.7 MB Candidate Interval for an Anophthalmia Gene at 3q26.33-q28 and Description of the Syndrome Associated with Visible Chromosome Deletions of This Region European Journal of Human Genetics : EJHG. Dec, 2002 | Pubmed ID: 12461687 Meiotic Outcomes in Reciprocal Translocation Carriers Ascertained in 3-day Human Embryos European Journal of Human Genetics : EJHG. Dec, 2002 | Pubmed ID: 12461686 Preimplantation Genetic Diagnosis Nature Reviews. Genetics. Dec, 2002 | Pubmed ID: 12459724 FISH for Pre-implantation Genetic Diagnosis Paul N. Scriven1, Toby L. Kirby1, Caroline Mackie Ogilvie1 1Department of Cytogenetics, GSTS-Pathology, Guy’s & St Thomas’ NHS Foundation Trust, Guy’s & St Thomas’ Centre for Preimplantation Genetic Diagnosis JoVE 2570 Medicine
FISH for Pre-implantation Genetic Diagnosis Paul N. Scriven1, Toby L. Kirby1, Caroline Mackie Ogilvie1 1Department of Cytogenetics, GSTS-Pathology, Guy’s & St Thomas’ NHS Foundation Trust, Guy’s & St Thomas’ Centre for Preimplantation Genetic Diagnosis JoVE 2570 Medicine