Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study

Jos Dreesen; Aspasia Destouni; Georgia Kourlaba; Birte Degn; Wulf Christensen Mette; Filipa Carvalho; Celine Moutou; Sioban Sengupta; Seema Dhanjal; Pamela Renwick; Steven Davies; Emmanouel Kanavakis; Gary Harton; Joanne Traeger-Synodinos

doi:10.1038/ejhg.2013.277

Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study

Jos Dreesen, Aspasia Destouni, Georgia Kourlaba, Birte Degn, Wulf Christensen Mette, Filipa Carvalho, Celine Moutou, Sioban Sengupta, Seema Dhanjal, Pamela Renwick, Steven Davies, Emmanouel Kanavakis, Gary Harton, Joanne Traeger-Synodinos

GROW - Reproductive and Perinatal Medicine

Research output: Contribution to journal › Article › Academic › peer-review

20 Citations (Scopus)

Original language	English
Journal	European Journal of Human Genetics
Volume	22
Issue number	8
DOIs	https://doi.org/10.1038/ejhg.2013.277
Publication status	Published - Aug 2014

Keywords

PCR
preimplantation genetic diagnosis
diagnostic efficiency evaluation

Access to Document

10.1038/ejhg.2013.277

Cite this

Dreesen, J., Destouni, A., Kourlaba, G., Degn, B., Mette, W. C., Carvalho, F., Moutou, C., Sengupta, S., Dhanjal, S., Renwick, P., Davies, S., Kanavakis, E., Harton, G., & Traeger-Synodinos, J. (2014). Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study. European Journal of Human Genetics, 22(8). https://doi.org/10.1038/ejhg.2013.277

Dreesen, Jos ; Destouni, Aspasia ; Kourlaba, Georgia ; Degn, Birte ; Mette, Wulf Christensen ; Carvalho, Filipa ; Moutou, Celine ; Sengupta, Sioban ; Dhanjal, Seema ; Renwick, Pamela ; Davies, Steven ; Kanavakis, Emmanouel ; Harton, Gary ; Traeger-Synodinos, Joanne. / Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study. In: European Journal of Human Genetics. 2014 ; Vol. 22, No. 8.

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keywords = "PCR, preimplantation genetic diagnosis, diagnostic efficiency evaluation",

author = "Jos Dreesen and Aspasia Destouni and Georgia Kourlaba and Birte Degn and Mette, {Wulf Christensen} and Filipa Carvalho and Celine Moutou and Sioban Sengupta and Seema Dhanjal and Pamela Renwick and Steven Davies and Emmanouel Kanavakis and Gary Harton and Joanne Traeger-Synodinos",

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Dreesen, J, Destouni, A, Kourlaba, G, Degn, B, Mette, WC, Carvalho, F, Moutou, C, Sengupta, S, Dhanjal, S, Renwick, P, Davies, S, Kanavakis, E, Harton, G & Traeger-Synodinos, J 2014, 'Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study', European Journal of Human Genetics, vol. 22, no. 8. https://doi.org/10.1038/ejhg.2013.277

Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study. / Dreesen, Jos; Destouni, Aspasia; Kourlaba, Georgia; Degn, Birte; Mette, Wulf Christensen; Carvalho, Filipa; Moutou, Celine; Sengupta, Sioban; Dhanjal, Seema; Renwick, Pamela; Davies, Steven; Kanavakis, Emmanouel; Harton, Gary; Traeger-Synodinos, Joanne.

In: European Journal of Human Genetics, Vol. 22, No. 8, 08.2014.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study

AU - Dreesen, Jos

AU - Destouni, Aspasia

AU - Kourlaba, Georgia

AU - Degn, Birte

AU - Mette, Wulf Christensen

AU - Carvalho, Filipa

AU - Moutou, Celine

AU - Sengupta, Sioban

AU - Dhanjal, Seema

AU - Renwick, Pamela

AU - Davies, Steven

AU - Kanavakis, Emmanouel

AU - Harton, Gary

AU - Traeger-Synodinos, Joanne

PY - 2014/8

Y1 - 2014/8

KW - PCR

KW - preimplantation genetic diagnosis

KW - diagnostic efficiency evaluation

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DO - 10.1038/ejhg.2013.277

M3 - Article

VL - 22

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

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