Preimplantation genetic diagnosis (PGD) for genetic prion disorder due to F198S mutation in the PRNP gene

JAMA Neurology

Volumn 71, Issue 4, 2014, Pages 484-486

  Uflacker, Alice ^a   Doraiswamy, P Murali ^a   Rechitsky, Svetlana ^b   See, Tricia ^c,d   Geschwind, Michael ^c   Tur Kaspa, Ilan ^b,e,f  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b REPRODUCTIVE GENETICS INSTITUTE   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d Informed DNA   (United States)

^e UNIVERSITY OF CHICAGO   (United States)

^f Institute for Human Reproduction   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PRION PROTEIN;

ADULT; ARTICLE; ASYMPTOMATIC DISEASE; BLASTOMA; CASE REPORT; CESAREAN SECTION; CODON; EMBRYO TRANSFER; FEMALE; FERTILIZATION IN VITRO; FOLLOW UP; GENE MUTATION; GENETIC COUNSELING; GENETIC POLYMORPHISM; GENETIC SCREENING; GERSTMANN STRAUSSLER SCHEINKER SYNDROME; HUMAN; MUTATIONAL ANALYSIS; POLAR BODY; PREIMPLANTATION GENETIC DIAGNOSIS; PREMATURITY; PRION DISEASE; PRION PROTEIN GENE; PRIORITY JOURNAL; RISK FACTOR; TWIN PREGNANCY;

ADULT; DISEASES IN TWINS; FEMALE; FOLLOW-UP STUDIES; GENETIC TESTING; HUMANS; INFANT, NEWBORN; MUTATION; PREGNANCY; PREIMPLANTATION DIAGNOSIS; PRION DISEASES; PRIONS; RISK;

EID: 84898972321     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2013.5884     Document Type: Article

References (6)

1. Rechitsky S, Kuliev A. Preimplantation diagnosis for single-gene disorders. In: Kuliev A, ed. Practical Preimplantation Genetic Diagnosis. 2nd ed. London, England: Springer; 2012: 45-170.
2. Tur-Kaspa I. Clinical management of in vitro fertilization with preimplantation genetic diagnosis. Semin Reprod Med. 2012;30(4): 309-322.
3. Liberski PP. Gerstmann-Sträussler-Scheinker disease. Adv Exp Med Biol. 2012;724: 128-137.
4. Rechitsky S, Verlinsky O, Kuliev A, et al. Preimplantation genetic diagnosis for familial dysautonomia. Reprod Biomed Online. 2003;6(4): 488-493. (Pubitemid 36849813)
5. Van Rij MC, De Rademaeker M, Moutou C, et al; BruMaStra PGDWorking Group. Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres. Eur J Hum Genet. 2012;20(4): 368-375.
6. Verlinsky Y, Rechitsky S, Verlinsky O, Masciangelo C, Lederer K, Kuliev A. Preimplantation diagnosis for early-onset Alzheimer disease caused by V717L mutation. JAMA. 2002;287(8): 1018-1021. (Pubitemid 34252060)