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  1. No Access

    Article

    Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism

    The ubiquitin pathway is an enzymatic cascade including activating E1, conjugating E2, and ligating E3 enzymes, which governs protein degradation and sorting. It is crucial for many physiological processes. Co...

    Nuria C. Bramswig, H.-J. Lüdecke, M. Pettersson, B. Albrecht… in Human Genetics (2017)

  2. No Access

    Article

    Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

    Dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A (DYRK1A) maps to the Down syndrome critical region; copy number increase of this gene is thought to have a major role in the neurocognitive defic...

    B W M van Bon, B P Coe, R Bernier, C Green, J Gerdts, K Witherspoon… in Molecular Psychiatry (2016)

  3. Article

    Open Access

    Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies

    Recent molecular cytogenetic data have shown that the constitution of complex chromosome rearrangements (CCRs) may be more complicated than previously thought. The complicated nature of these rearrangements ch...

    L. E. L. M. Vissers, P. Stankiewicz, S. A. Yatsenko, E. Crawford… in Human Genetics (2007)

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    Article

    Screening with the FMR1 protein test among mentally retarded males

    The fragile X syndrome is characterized by X-linked mental retardation with additional features such as a long face with large protruding ears, macroorchidism, and eye-gaze avoidance. The disorder is caused ...

    B. B. A. de Vries, Serieta Mohkamsing, Ans M. W. van den Ouweland… in Human Genetics (1998)