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  1. Article

    Open Access

    3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome

    Roberts syndrome (RBS) is a rare autosomal recessive disorder mainly characterized by growth retardation, limb defects and craniofacial anomalies. Characteristic cytogenetic findings are "railroad track" appea...

    Celine Dupont, Martine Bucourt, Fabien Guimiot, Lilia Kraoua… in Molecular Cytogenetics (2014)

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    Article

    The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat

    Meckel-Gruber syndrome is a severe autosomal, recessively inherited disorder characterized by bilateral renal cystic dysplasia, developmental defects of the central nervous system (most commonly occipital ence...

    Ursula M Smith, Mark Consugar, Louise J Tee, Brandy M McKee… in Nature Genetics (2006)