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  1. Article

    Open Access

    The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation

    About 7 % of karyotypically balanced chromosomal rearrangements (BCRs) are associated with congenital anomalies due to gene or regulatory element disruption, and cryptic imbalances on rearranged chromosomes. R...

    Ana Carolina S. Fonseca, Adriano Bonaldi, Simone A. S. Fonseca… in Molecular Cytogenetics (2015)

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  2. Article

    Open Access

    The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia

    The association of balanced rearrangements with breakpoints near SOX9 [SRY (sex determining region Y)-box 9] with skeletal abnormalities has been ascribed to the presumptive altering of SOX9 expression by the dir...

    Ana Carolina S Fonseca, Adriano Bonaldi, Débora R Bertola… in BMC Medical Genetics (2013)

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