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  1. Article

    Open Access

    Low autopsy acceptance after stillbirth in a disadvantaged French district: a mixed methods study

    Priscille Sauvegrain, Marion Carayol, Aurélie Piedvache… in BMC Pregnancy and Childbirth (2019)

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    Article

    Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis

    Disorders of post-squalene cholesterol biosynthesis are inborn errors of metabolism characterised by multiple congenital abnormalities, including significant skeletal involvement. The most frequent and best-ch...

    Massimiliano Rossi, Christine M. Hall, Raymonde Bouvier… in Pediatric Radiology (2015)

  3. No Access

    Article

    Antiphospholipid syndrome and other autoimmune diseases associated with chronic intervillositis

    Chronic intervillositis of unknown etiology (CIUE) is characterized by an intervillous infiltrate of mononuclear cells and a high recurrence rate of adverse obstetrical outcomes. The aim was to describe obstet...

    Aurélie Revaux, Arsène Mekinian, Pascale Nicaise… in Archives of Gynecology and Obstetrics (2015)

  4. 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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  5. No Access

    Article

    Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases

    L1 syndrome results from mutations in the L1CAM gene located at Xq28. It encompasses a wide spectrum of diseases, X-linked hydrocephalus being the most severe phenotype detected in utero, and whose pathophysiolog...

    Homa Adle-Biassette, Pascale Saugier-Veber… in Acta Neuropathologica (2013)

  6. No Access

    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)