Caroline Mackie Ogilvie

Department of Cytogenetics, Guy’s & St Thomas’ Centre for Preimplantation Genetic Diagnosis

Affiliated withGuy’s & St Thomas’ Centre for Preimplantation Genetic Diagnosis Guy's & St Thomas' NHS Foundation Trust

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Biography

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JoVE Journal Publications

ArticleTotal : 2	Year
Publication title Cited by 17	2011
Publication title Cited by 7	2015

Other Publications

Article	Year
Preimplantation genetic diagnosis. Nature reviews. Genetics\| PubMed ID: 12459724	2002
Meiotic outcomes in reciprocal translocation carriers ascertained in 3-day human embryos. European journal of human genetics : EJHG\| PubMed ID: 12461686	2002
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\| PubMed ID: 12461687	2002
Strategies and outcomes of the first 100 cycles of preimplantation genetic diagnosis at the Guy's and St. Thomas' Center. Fertility and sterility\| PubMed ID: 12524068	2003
Laboratory diagnosis. Lancet\| PubMed ID: 12531594	2003
Development and targeted application of a rapid QF-PCR test for sex chromosome imbalance. Prenatal diagnosis\| PubMed ID: 12627420	2003
Prenatal diagnosis for chromosome abnormalities: past, present and future. Pathologie-biologie\| PubMed ID: 12781797	2003
Characterization of terminal chromosome anomalies using multisubtelomere FISH. American journal of medical genetics. Part A\| PubMed ID: 12884426	2003
Preimplantation genetic diagnosis. Lancet\| PubMed ID: 12885500	2003
In vivo somatic microsatellite mutations identified in non-malignant human tissue. Human genetics\| PubMed ID: 14505038	2003
Class II neocentromeres: a putative common neocentromere site in band 4q21.2. European journal of human genetics : EJHG\| PubMed ID: 14512964	2003
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\| PubMed ID: 14598339	2003
A trisomy 2 fetus with severe neural tube defects and other abnormalities. Clinical dysmorphology\| PubMed ID: 15127760	2004
Investigation of chromosomal imbalance in human embryos using comparative genomic hybridization. Reproductive biomedicine online\| PubMed ID: 15169589	2004
Strategies for the rapid prenatal diagnosis of chromosome aneuploidy. European journal of human genetics : EJHG\| PubMed ID: 15292918	2004
Preimplantation genetic diagnosis (PGD) for reciprocal translocations. Prenatal diagnosis\| PubMed ID: 15300748	2004
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\| PubMed ID: 15378552	2004
Multiplex ligation-dependent probe amplification using a completely synthetic probe set. BioTechniques\| PubMed ID: 15470894	2004
Maternal cell contamination of prenatal samples assessed by QF-PCR genotyping. Prenatal diagnosis\| PubMed ID: 15662689	2005
Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis. Prenatal diagnosis\| PubMed ID: 15662691	2005
Preimplantation genetic diagnosis--an overview. The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society\| PubMed ID: 15749997	2005
Rapid prenatal diagnosis of aneuploidy using quantitative fluorescence-PCR (QF-PCR). The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society\| PubMed ID: 15750003	2005
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\| PubMed ID: 16167939	2005
Prenatal diagnosis. Lancet\| PubMed ID: 16198756	2005
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\| PubMed ID: 16596677	2006
Proof of principle and first cases using preimplantation genetic haplotyping--a paradigm shift for embryo diagnosis. Reproductive biomedicine online\| PubMed ID: 16820122	2006
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 ... European journal of human genetics : EJHG\| PubMed ID: 16985501	2007
Preimplantation genetic diagnosis for monogenic diseases: overview and emerging issues. Expert review of molecular diagnostics\| PubMed ID: 17187482	2007
Determination of the genetic status of cleavage-stage human embryos by microsatellite marker analysis following multiple displacement amplification. Prenatal diagnosis\| PubMed ID: 17262877	2007
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\| PubMed ID: 17286305	2007
Analysis of a chromosomally mosaic placenta to assess the cell populations in dissociated chorionic villi: implications for QF-PCR aneuploidy testing. Prenatal diagnosis\| PubMed ID: 17323406	2007
Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre. BMC medical genetics\| PubMed ID: 17338807	2007
Prevalence of Angelman syndrome amongst referrals with epilepsy and developmental delay. American journal of medical genetics. Part A\| PubMed ID: 17676602	2007
Fluorescence in situ hybridization on single cells. (Sex determination and chromosome rearrangements). Methods in molecular medicine\| PubMed ID: 17876073	2007
Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis. Molecular cytogenetics\| PubMed ID: 18471307	2008
Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them. Molecular cytogenetics\| PubMed ID: 18533011	2008
The copy number variant involving part of the alpha7 nicotinic receptor gene contains a polymorphic inversion. European journal of human genetics : EJHG\| PubMed ID: 18545269	2008
A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report. Molecular cytogenetics\| PubMed ID: 19239688	2009
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\| PubMed ID: 19471316	2009
An Evaluation of the Effectiveness of a Semi-automatic Metaphase Locating and On-screen Karyotyping System. Journal of the Association of Genetic Technologists\| PubMed ID: 20081315	2008
Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells. Reproductive biomedicine online\| PubMed ID: 20144563	2010
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\| PubMed ID: 20234391	2010
Preimplantation genetic diagnosis for a carrier of a Y;autosome translocation resulting in a healthy male offspring. Fertility and sterility\| PubMed ID: 20338558	2010
Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance. Molecular cytogenetics\| PubMed ID: 20398301	2010
QF-PCR as a stand-alone test for prenatal samples: the first 2 years' experience in the London region. Prenatal diagnosis\| PubMed ID: 20509149	2010
FISH for pre-implantation genetic diagnosis. Methods in molecular biology (Clifton, N.J.)\| PubMed ID: 20809319	2010
Safety paradigm: genetic evaluation of therapeutic grade human embryonic stem cells. Journal of the Royal Society, Interface / the Royal Society\| PubMed ID: 20826474	2010
MLPA for confirmation of array CGH results and determination of inheritance. Molecular cytogenetics\| PubMed ID: 20942916	2010
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\| PubMed ID: 21056703	2011
Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues? Journal of medical genetics\| PubMed ID: 21429933	2011
Embryo selection in IVF: is polar body array comparative genomic hybridization accurate enough? Human reproduction (Oxford, England)\| PubMed ID: 22328558	2012