Skip to main content

4 Result(s)

within Marie-Claude Vinet Remove this filter

and

  1. No Access

    Article

    A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

    We demonstrate here the importance of interleukin signalling pathways in cognitive function and the normal physiology of the CNS. Thorough investigation of an MRX critical region in Xp22.1–21.3 enabled us to i...

    Alain Carrié, Lin Jun, Thierry Bienvenu, Marie-Claude Vinet… in Nature Genetics (1999)

  2. No Access

    Article

    Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

    Primary or nonspecific X-linked mental retardation (MRX) is a heterogeneous condition in which affected patients do not have any distinctive clinical or biochemical features in common apart from cognitive impa...

    Pierre Billuart, Thierry Bienvenu, Nathalie Ronce, Vincent des Portes… in Nature (1998)

  3. No Access

    Article

    Linkage study of a large family with autosomal dominant polycystic kidney disease with reduced expression

    We describe a large three generation family with autosomal dominant polycystic kidney disease (PKD). Ultrasonographic screening of 60 family members revealed 20 individuals, whose age ranged from ten to eighty...

    Lucien Bachner, Marie Claude Vinet, Roger Lacave, Marie Claude Babron… in Human Genetics (1990)

  4. No Access

    Article

    Autosomal dominant polycystic kidney disease and α−4.2 thalassemia in a Caucasian family

    We describe the first known association between autosomal dominant polycystic kidney disease (ADPKD) and α−4.2 thalassemia in a Caucasian family. Linkage studies have been carried out using two probes (3′ HVR and...

    Marie Claude Vinet, Catherine Dodé, Olivier Pascal, Nicole Monnier… in Human Genetics (1989)