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Article
Analysis of implantation and ongoing pregnancy rates following the transfer of mosaic diploid–aneuploid blastocysts
Preimplantation genetic testing for aneuploidy (PGT-A) is widely used in IVF and aims to improve outcomes by avoiding aneuploid embryo transfers. Chromosomal mosaicism is extremely common in early development ...
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Article
Polymorphisms in the MTHFR gene influence embryo viability and the incidence of aneuploidy
MTHFR is an important enzyme in the metabolism of folic acid and is crucial for reproductive function. Variation in the sequence of MTHFR has been implicated in subfertility, but definitive data are lacking. In t...
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Article
The origin and impact of embryonic aneuploidy
Despite the clinical importance of aneuploidy, surprisingly little is known concerning its impact during the earliest stages of human development. This study aimed to shed light on the genesis, progression, an...
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Chapter
Successful Live Birth following Preimplantation Genetic Diagnosis for Phenylketonuria in Day 3 Embryos by Specific Mutation Analysis and Elective Single Embryo Transfer
Phenylketonuria (PKU) is an autosomal recessive inherited metabolic disorder caused by a complete or near-complete deficiency of the liver enzyme phenylalanine hydroxylase (PAH), which converts the amino acid ...
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Article
Localisation of the human blue cone pigment gene to chromosome band 7q31.3-32
Blue cone pigment (BCP) is one of three types of cone photoreceptors responsible for normal colour vision. In this study, the BCP gene has been localised to chromosome 7q31.3-32 by fluorescent in situ hybridis...