Successful PGD for late infantile neuronal ceroid lipofuscinosis achieved by combined chromosome and TPP1 gene analysis

Reproductive BioMedicine Online

Volumn 27, Issue 2, 2013, Pages 176-183

  Shen, Jiandong ^a   Cram, David Stephen ^b   Wu, Wei ^a   Cai, Lingbo ^a   Yang, Xiaoyu ^a   Sun, Xueping ^a   Cui, Yugui ^a   Liu, Jiayin ^a  

^a NANJING MEDICAL UNIVERSITY   (China)

^b MONASH UNIVERSITY   (Australia)

Author keywords

aneuploid screening; array comparative genomic hybridization; fluorescent PCR; late infantile neuronal ceroid lipofuscinosis; preimplantation genetic diagnosis; whole genome amplification

Indexed keywords

PEPTIDASE; TRIPEPTIDYL PEPTIDASE I; UNCLASSIFIED DRUG;

ADULT; AMNIOCENTESIS; ANEUPLOIDY; ARRAY COMPARATIVE GENOMIC HYBRIDIZATION; ARTICLE; BLASTOCYST; BLASTOMA; CHROMOSOME; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; EMBRYO; EMBRYO TRANSFER; FEMALE; FERTILIZATION IN VITRO; FETUS; GENE AMPLIFICATION; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE; HUMAN; HUMAN CELL; MALE; NEURONAL CEROID LIPOFUSCINOSIS; NEURONAL CEROID LIPOFUSCINOSIS LATE INFANTILE TYPE; PLOIDY; PREIMPLANTATION GENETIC DIAGNOSIS; PRENATAL DIAGNOSIS; WHOLE GENOME AMPLIFICATION;

EID: 84881133553     PISSN: 14726483     EISSN: 14726491     Source Type: Journal    
DOI: 10.1016/j.rbmo.2013.04.011     Document Type: Article

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