Search Results - De Gennes, Jean Luc

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  1. 1
    Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia

    Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia by AMSELLEM, Sabine, BRIFFAUT, Dorothée, DE GENNES, Jean Luc, BRUKERT, Eric, BENLIAN, Pascale, CARRIE, Alain, RABES, Jean Pierre, GIRARDET, Jean Philippe, FREDENRICH, Alexandre, MOULIN, Philippe, KREMPF, Michel, REZNIK, Yves, VIALETTES, Bernard

    Published in Human genetics
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  2. 2
    Compound heterozygosity for frameshift mutations in the gene for lipoprotein lipase in a patient with early-onset chylomicronemia

    Compound heterozygosity for frameshift mutations in the gene for lipoprotein lipase in a patient with early-onset chylomicronemia by Foubert, Luc, De Gennes, Jean Luc, Benlian, Pascale, Truffert, Jacqueline, Miao, Li, Hayden, Michael R.

    Published in Human mutation
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  3. 3
    Identification of a new apolipoprotein E variant (E 2 Arg 142 → Leu) in type III hyperlipidemia

    Identification of a new apolipoprotein E variant (E 2 Arg 142 → Leu) in type III hyperlipidemia by Richard, Pascale, de Zulueta, Maria Pascual, Beucler, Isabel, De Gennes, Jean-Luc, Cassaigne, André, Iron, Albert

    Published in Atherosclerosis
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  4. 4
    A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry

    A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry by Foubert, Luc, Bruin, Taco, Gennes, Jean Luc De, Ehrenborg, Ewa, Furioli, Jean, Kastelein, John, Benlian, Pascale, Hayden, Michael

    Published in Human mutation
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  5. 5
    Linkage analysis of hereditary thyroid carcinoma with and without pheochromocytoma

    Linkage analysis of hereditary thyroid carcinoma with and without pheochromocytoma by NAROD, S. A, SOBOL, H, GARDET, P, GUILLAUSSEAU, P.-J, GUILLOTEAU, D, HOUDENT, C, LEFEBVRE, J, MODIGLIANI, E, PARMENTIER, C, PUGEAT, M, SIAME, C, TOURNIAIRE, J, NAKAMURA, Y, VANDROUX, J.-C, VINOT, J.-M, LENOIR, G. M, CALMETTES, C, BAULIEU, J.-L, BIGORGNE, J.-C, CHABRIER, G, COUETTE, J, DE GENNES, J.-L, DUPREY, J

    Published in Human genetics
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  6. 6
    Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency

    Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency by BENLIAN, P, FOUBERT, L, GAGNE, E, BERNARD, L, DE GENNES, J. L, LANGLOIS, S, ROBINSON, W, HAYDEN, M

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  7. 7
    Assessment of French patients with LPL deficiency for French Canadian mutations

    Assessment of French patients with LPL deficiency for French Canadian mutations by Foubert, L, De Gennes, J L, Lagarde, J P, Ehrenborg, E, Raisonnier, A, Girardet, J P, Hayden, M R, Benlian, P

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