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  1. No Access

    Article

    Linkage studies do not confirm the cytogenetic location of incontinentia pigmenti on Xp11

    Linkage studies have been performed in 5 incontinentia pigmenti (IP) families totaling 29 potentially informative meioses. Ten probes of the Xp arm were used, six of them were precisely localized on the X chro...

    A. Sefiani, D. Sinnett, L. Abel, S. Szpiro-Tapia, S. Heuertz, I. Craig… in Human Genetics (1988)

  2. No Access

    Article

    Ataxia-telangiectasia: Linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome

    Ataxia-telangiectasia (A-T) is a progressive autosomal recessive disease featuring neurodegeneration, immunodeficiency, chromosomal instability, radiation sensitivity and a highly increased proneness to cancer...

    Y. Ziv, M. Frydman, E. Lange, N. Zelnik, G. Rotman, C. Julier… in Human Genetics (1992)

  3. No Access

    Article

    The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population

    Connexin 26 (GJB2) mutations lead to hearing loss in a significant proportion of all populations studied so far, despite the fact that at least 50 other genes are also associated with hearing loss. The entire co...

    T. Sobe, S. Vreugde, H. Shahin, M. Berlin, N. Davis, M. Kanaan, Y. Yaron… in Human Genetics (2000)