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

European Journal of Human Genetics

Volumn 22, Issue 8, 2014, Pages 1012-1018

  Dreesen, Jos ^a   Destouni, Aspasia ^b   Kourlaba, Georgia ^b   Degn, Birte ^c   Mette, Wulf Christensen ^c   Carvalho, Filipa ^d   Moutou, Celine ^e   Sengupta, Sioban ^f   Dhanjal, Seema ^f   Renwick, Pamela ^g   Davies, Steven ^h   Kanavakis, Emmanouel ^b   Harton, Gary ^i,j   Traeger Synodinos, Joanne ^b  

^a MAASTRICHT UNIVERSITY   (Netherlands)

^b UNIVERSITY OF ATHENS   (Greece)

^c AARHUS UNIVERSITY HOSPITAL   (Denmark)

^d University of Porto   (Portugal)

^e UNIVERSITÉ DE STRASBOURG   (France)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^h Embryogenesis Assisted Reproduction Unit   (Greece)

ⁱ Reprogenetics LLC   (United States)

^j ILLUMINA INC   (United States)

more..

Author keywords

diagnostic efficiency evaluation; PCR; preimplantation genetic diagnosis

Indexed keywords

ARTICLE; BLASTOMA; COMPARATIVE STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; EMBRYO; EMBRYOLOGY; FOLLOW UP; GENOTYPE; HUMAN; MOLECULAR DIAGNOSIS; MONOGENIC DISORDER; MORPHOLOGY; MULTICENTER STUDY; MULTIPLEX POLYMERASE CHAIN REACTION; POLYMERASE CHAIN REACTION; PREIMPLANTATION GENETIC DIAGNOSIS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; BIOPSY; CLINICAL TRIAL; FEMALE; GENETIC DISEASES, INBORN; GENETICS; METABOLISM; PREGNANCY; PROCEDURES; REPRODUCIBILITY; RISK FACTOR; EVALUATION STUDY; GENETIC ANALYSIS; MOSAICISM; PRENATAL DIAGNOSIS; SENSITIVITY AND SPECIFICITY;

BIOPSY; BLASTOMERES; FEMALE; GENETIC DISEASES, INBORN; HUMANS; POLYMERASE CHAIN REACTION; PREGNANCY; PREIMPLANTATION DIAGNOSIS; REPRODUCIBILITY OF RESULTS; RETROSPECTIVE STUDIES; RISK FACTORS;

EID: 84904624929     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.277     Document Type: Article

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