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  1. No Access

    Article

    Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood

    Linkage analysis is described in a family with X-linked mental retardation, ataxia, weakness, floppiness, delayed motor development, absence of deep tendon reflexes, hearing impairment and loss of vision (MIM ...

    H. Kremer, B. C. J. Hamel, B. van den Helm, W. F. M. Arts, I. J. de Wijs… in Human Genetics (1996)

  2. No Access

    Article

    Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family

    Alagille syndrome (AGS) or arteriohepatic dysplasia is a rare but well-defined clinical entity that is usually inherited as an autosomal dominant trait. A limited number of patients carry a deletion in chromos...

    F. A. Hol, B. C. J. Hamel, M. P. A. Geurds, I. Hansmann, F. A. E. Nabben… in Human Genetics (1995)

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    Article

    Exclusion map** of the gene for X-linked neural tube defects in an Icelandic family

    Various polymorphic markers with a random distribution along the X chromosome were used in a linkage analysis performed on a family with apparently Xlinked recessive inheritance of neural tube defects (NTD). T...

    F. A. Hol, M. P. A. Geurds, O. Jensson, B. C. J. Hamel, G. E. Moore… in Human Genetics (1994)