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  1. No Access

    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...

    Jude Fitzgibbon, Binoy Appukuttan, Simon Gayther, Dagan Wells… in Human Genetics (1994)

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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 ...

    Stuart Lavery, Dima Abdo, Mara Kotrotsou… in JIMD Reports - Case and Research Reports, … (2013)

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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...

    Elpida Fragouli, Samer Alfarawati, Katharina Spath, Souraya Jaroudi… in Human Genetics (2013)

  4. No Access

    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...

    María Enciso, Jonás Sarasa, Leoni Xanthopoulou, Sara Bristow… in Human Genetics (2016)

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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 ...

    Elpida Fragouli, Samer Alfarawati, Katharina Spath, Dhruti Babariya… in Human Genetics (2017)