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  1. Article

    Open Access

    Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene

    Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple, circumscript and usually symmetric bony protuberances called osteochondromas. Most H...

    Angelos Alexandrou, Nicole Salameh, Ioannis Papaevripidou… in Molecular Cytogenetics (2023)

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  2. Article

    Open Access

    Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement

    Precise characterization of apparently balanced complex chromosomal rearrangements in non-affected individuals is crucial as they may result in reproductive failure, recurrent miscarriages or affected offspring.

    Constantia Aristidou, Athina Theodosiou, Andria Ketoni, Mads Bak… in Molecular Cytogenetics (2018)

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