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Reproductive BioMedicine Online
Volume 20, Issue 4
, Pages 470-476
, April 2010
Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells
References
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- The minisequencing method: an alternative strategy for preimplantation genetic diagnosis of single gene disorders. Mol. Hum. Reprod. 2003;9:399–410
- ESHRE PGD Consortium data collection VIII: cycles from January to December 2005 with pregnancy follow-up to October 2006. Hum. Reprod. 2008;23:2629–2645
- Three hundred and thirty cycles of preimplantation genetic diagnosis for serious genetic disease: clinical considerations affecting outcome. Bjog. 2006;113:1393–1401
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- . Mutation and haplotype analysis for Duchenne muscular dystrophy by single cell multiple displacement amplification. Mol. Hum. Reprod. 2007;13:431–436
- . Preimplantation genetic diagnosis for monogenic diseases: overview and emerging issues. Expert Rev. Mol. Diagn. 2007;7:33–43
- Proof of principle and first cases using preimplantation genetic haplotyping – a paradigm shift for embryo diagnosis. Reprod. Biomed. Online. 2006;13:110–119
- . Single cell polymerase chain reaction for preimplantation genetic diagnosis: methods, strategies, and limitations. Methods Mol. Med. 2007;132:31–42
- Preimplantation genetic diagnosis for Marfan syndrome. Fertil. Steril. 2006;86:310–320
- ESHRE PGD Consortium ‘Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)’. Hum. Reprod. 2005;20:35–48
Pamela Renwick is a consultant clinical scientist and is head of the molecular genetic group within the Centre for Preimplantation Genetic Diagnosis at Guy’s and St. Thomas’ Hospital; this service provides preimplantation genetic diagnosis (PGD) for couples at risk of inherited single-gene defects. She introduced the approach of preimplantation genetic haplotyping in 2006 which won the centre a national Hospital Doctor award for innovation. She has recently joined the steering committee of the ESHRE PGD consortium.
PII: S1472-6483(10)00007-6
doi: 10.1016/j.rbmo.2010.01.006
« Previous
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Reproductive BioMedicine Online
Volume 20, Issue 4
, Pages 470-476
, April 2010
