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  1. Article

    Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

    This Article was originally published under a CC BY-NC-SA 4.0 license, but has now been made available under a CC BY 4.0 license. The PDF and HTML versions of the Article have been modified accordingly.

    S. Riazuddin, M. Hussain, A. Razzaq, Z. Iqbal, M. Shahzad… in Molecular Psychiatry (2020)

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  2. Article

    Open Access

    Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

    Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1–3% of the general population. Although research into the genetic causes of ID has recently gained momentum, iden...

    S Riazuddin, M Hussain, A Razzaq, Z Iqbal, M Shahzad, D L Polla… in Molecular Psychiatry (2017)

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  3. Article

    Open Access

    X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

    X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of f...

    H Hu, S A Haas, J Chelly, H Van Esch, M Raynaud, A P M de Brouwer… in Molecular Psychiatry (2016)

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  4. No Access

    Article

    X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

    Submicroscopic duplications along the long arm of the X-chromosome with known phenotypic consequences are relatively rare events. The clinical features resulting from such duplications are various, though they...

    R. S. Møller, L. R. Jensen, S. M. Maas, J. Filmus, M. Capurro, C. Hansen… in Human Genetics (2014)

  5. No Access

    Article

    Screening of ARX in mental retardation families: consequences for the strategy of molecular diagnosis

    Mutations in the human ARX gene have been shown to cause nonsyndromic X-linked mental retardation (MRX) as well as syndromic forms such as X-linked lissencephaly with abnormal genitalia (XLAG), Partington syndrom...

    K. Poirier, D. Lacombe, B. Gilbert-Dussardier, M. Raynaud, V. Desportes… in Neurogenetics (2006)

  6. No Access

    Article

    A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome

    Homozygosity map** and linkage analysis in a Turkish family with autosomal recessive prelingual sensorineural hearing loss revealed a 15-cM critical region at 17q25.1–25.3 flanked by the polymorphic markers ...

    E. Kalay, A. P. M. de Brouwer, R. Caylan, S. B. Nabuurs… in Journal of Molecular Medicine (2005)

  7. No Access

    Article

    Thiophene interconversion in elicitor-treated roots ofTagetes patula L.

    Thiophenes are polyacetylene-related heterocyclic metabolites. Some of these compounds are phototoxic, but the bithiophenes occurring inTagetes mainly accumulate in the root where photo-activation is not likely t...

    R. R. J. Arroo, A. P. M. De Brouwer, A. F. Croes, G. J. Wullems in Plant Cell Reports (1995)

  8. No Access

    Article

    Abstracts of posters

    R. R. J. Arroo, A. P. M. de Brouwer, J. J. M. R. Jacobs… in Pharmacy World and Science (1993)