Caroline Mackie Ogilvie

Preimplantation genetic diagnosis.

Meiotic outcomes in reciprocal translocation carriers ascertained in 3-day human embryos.

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.

Strategies and outcomes of the first 100 cycles of preimplantation genetic diagnosis at the Guy's and St. Thomas' Center.

Laboratory diagnosis.

Development and targeted application of a rapid QF-PCR test for sex chromosome imbalance.

Prenatal diagnosis for chromosome abnormalities: past, present and future.

Characterization of terminal chromosome anomalies using multisubtelomere FISH.

Preimplantation genetic diagnosis.

In vivo somatic microsatellite mutations identified in non-malignant human tissue.

Class II neocentromeres: a putative common neocentromere site in band 4q21.2.

Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases.

A trisomy 2 fetus with severe neural tube defects and other abnormalities.

Investigation of chromosomal imbalance in human embryos using comparative genomic hybridization.

Strategies for the rapid prenatal diagnosis of chromosome aneuploidy.

Preimplantation genetic diagnosis (PGD) for reciprocal translocations.

A new neocentromere locus on chromosome 13 resulting in mosaic tetrasomy for distal 13q and an asymmetric phenotype.

Multiplex ligation-dependent probe amplification using a completely synthetic probe set.

Maternal cell contamination of prenatal samples assessed by QF-PCR genotyping.

Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis.

Preimplantation genetic diagnosis--an overview.

Rapid prenatal diagnosis of aneuploidy using quantitative fluorescence-PCR (QF-PCR).

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.

Prenatal diagnosis.

Multicolor banding detects a complex three chromosome, seven breakpoint unbalanced rearrangement in an ICSI-derived fetus with multiple abnormalities.

Proof of principle and first cases using preimplantation genetic haplotyping--a paradigm shift for embryo diagnosis.

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.

Preimplantation genetic diagnosis for monogenic diseases: overview and emerging issues.

Determination of the genetic status of cleavage-stage human embryos by microsatellite marker analysis following multiple displacement amplification.

Complete discrepancy between QF-PCR analysis of uncultured villi and karyotyping of cultured cells in the prenatal diagnosis of trisomy 21 in three CVS.

Analysis of a chromosomally mosaic placenta to assess the cell populations in dissociated chorionic villi: implications for QF-PCR aneuploidy testing.

Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre.

Prevalence of Angelman syndrome amongst referrals with epilepsy and developmental delay.

Fluorescence in situ hybridization on single cells. (Sex determination and chromosome rearrangements).

Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis.

Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them.

The copy number variant involving part of the alpha7 nicotinic receptor gene contains a polymorphic inversion.

A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report.

Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart.

An Evaluation of the Effectiveness of a Semi-automatic Metaphase Locating and On-screen Karyotyping System.

Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells.

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.

Preimplantation genetic diagnosis for a carrier of a Y;autosome translocation resulting in a healthy male offspring.

Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance.

QF-PCR as a stand-alone test for prenatal samples: the first 2 years' experience in the London region.

FISH for pre-implantation genetic diagnosis.

Safety paradigm: genetic evaluation of therapeutic grade human embryonic stem cells.

MLPA for confirmation of array CGH results and determination of inheritance.

Detection of mosaicism for genome imbalance in a cohort of 3,042 clinical cases using an oligonucleotide array CGH platform.

Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?

Embryo selection in IVF: is polar body array comparative genomic hybridization accurate enough?