Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome von Lefèvre, Caroline, Jobard, Florence, Caux, Frédéric, Bouadjar, Bakar, Karaduman, Aysen, Heilig, Roland, Lakhdar, Hakima, Wollenberg, Andreas, Verret, Jean-Luc, Weissenbach, Jean, Özgüc, Meral, Lathrop, Mark, Prud'homme, Jean-François, Fischer, Judith

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Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia von Heilig, Roland, Dürr, Alexandra, Brottier, Philippe, Fontaine, Bertrand, Weissenbach, Jean, Burgunder, Jean-Marc, Paternotte, Caroline, Fonknechten, Nùria, Samson, Delphine, Cruaud, Corinne, Wincker, Patrick, Davoine, Claire-Sophie, Brice, Alexis, Hazan, Jamilé, Cattolico, Laurence, Mavel, Delphine, Artiguenave, François, Barbe, Valérie, Prud'homme, Jean-François

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A Radiation Hybrid Map of the Human Genome von Gyapay, Gabor, Schmitt, Karin, Fizames, Cécile, Jones, Hywel, Vega-Czarny, Nathalie, Spillett, Dominique, Muselet, Delphine, Prud'Homme, Jean-François, Dib, Colette, Auffray, Charles, Morissette, Jean, Weissenbach, Jean, Goodfellow, Peter N.

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Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large basque pedigree linked to chromosome 10q von Poza, J. J., Sáenz, A., Martínez-Gil, A., Cheron, N., Cobo, A. M., Urtasun, M., Martí-Massó, J. F., Grid, D., Beckmann, J. S., Prud'Homme, J. F., López De Munain, A.

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A Second Locus for Familial Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2q21-q33 von Baulac, Stéphanie, Gourfinkel-An, Isabelle, Picard, Fabienne, Rosenberg-Bourgin, Myriam, Prud'homme, Jean-François, Baulac, Michel, Brice, Alexis, LeGuern, Eric

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Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia von FONKNECHTEN, N, MAVEL, D, BURGUNDER, J.-M, TARTAGLIONE, A, HEINZLEF, O, FEKI, I, DEUFEL, T, PARFREY, N, BRICE, A, FONTAINE, B, PRUD'HOMME, J.-F, WEISSENBACH, J, BYRNE, P, DÜRR, A, HAZAN, J, DAVOINE, C.-S, CRUAUD, C, BOENTSCH, D, SAMSON, D, COUTINHO, P, HUTCHINSON, M, MCMONAGLE, P

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Genome search for susceptibility loci of common idiopathic generalised epilepsies von SANDER, T, SCHULZ, H, VILLE, D, CIEUTA, C, PICARD, F, PRUD'HOMME, J.-F, BATE, L, SUNDQUIST, A, GARDINER, R. M, JANSSEN, G. A. M. A. J, DE HAAN, G.-J, KASTELEIJN-NOLST-TRENITE, D. G. A, SAAR, K, BADER, A, LINDHOUT, D, RIESS, O, WIENKER, T. F, JANZ, D, REIS, A, GENNARO, E, RIGGIO, M. C, BIANCHI, A, ZARA, F, LUNA, D, BULTEAU, C, KAMINSKA, A

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Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2 von Lefèvre, Caroline, Audebert, Stéphanie, Jobard, Florence, Bouadjar, Bakar, Lakhdar, Hakima, Boughdene-Stambouli, Omar, Blanchet-Bardon, Claudine, Heilig, Roland, Foglio, Mario, Weissenbach, Jean, Lathrop, Mark, Prud'homme, Jean-François, Fischer, Judith

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Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome von Jobard, Florence, Bouadjar, Bakar, Caux, Frédéric, Hadj-Rabia, Smail, Has, Christina, Matsuda, Fumi, Weissenbach, Jean, Lathrop, Mark, Prud'homme, Jean-François, Fischer, Judith

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Two New Loci for Autosomal Recessive Ichthyosis on Chromosomes 3p21 and 19p12-q12 and Evidence for Further Genetic Heterogeneity von Fischer, Judith, Faure, Alexandra, Bouadjar, Bakar, Blanchet-Bardon, Claudine, Karaduman, Aysen, Thomas, Isabelle, Emre, Serap, Cure, Susan, Özgüc, Meral, Weissenbach, Jean, Prud'homme, Jean-François

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Mutations in the gene encoding SLURP-1 in Mal de Meleda von FISCHER, Judith, BOUADJAR, Bakar, LATHROP, Mark, HOHL, Daniel, PRUD-HOMME, Jean-Francois, HEILIG, Roland, HUBER, Marcel, LEFEVRE, Caroline, JOBARD, Florence, MACARI, Francoise, BAKIJA-KONSUO, Ana, ALT-BELKACEM, Farid, WEISSENBACH, Jean

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Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy von Morante-Redolat, José M., Gorostidi-Pagola, Ana, Piquer-Sirerol, Salomé, Sáenz, Amets, Poza, Juan J., Galán, Juan, Gesk, Stefan, Sarafidou, Theologia, Mautner, Victor-F., Binelli, Simona, Staub, Eike, Hinzmann, Bernd, French, Lisa, Prud'homme, Jean-F., Passarelli, Daniela, Scannapieco, Paolo, Tassinari, Carlo A., Avanzini, Giuliano, Martí-Massó, José F., Kluwe, Lan, Deloukas, Panagiotis, Moschonas, Nicholas K., Michelucci, Roberto, Siebert, Reiner, Nobile, Carlo, Pérez-Tur, Jordi, López de Munain, Adolfo

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Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1 von Jobard, Florence, Lefèvre, Caroline, Karaduman, Aysen, Blanchet-Bardon, Claudine, Emre, Serap, Weissenbach, Jean, Ozgüc, Meral, Lathrop, Mark, Prud'homme, Jean-François, Fischer, Judith

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Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity von Parmentier, Laurent, Blanchet-Bardon, Claudine, Nguyen, Simon, Prud'homme, Jean-François, Dubertret, Louis, Weissenbach, Jean

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A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21 von STEVANIN, G, PATERNOTTE, C, WEISSENBACH, J, BRICE, A, HAZAN, J, COUTINHO, P, KLEBE, S, ELLEUCH, N, LOUREIRO, J. L, DENIS, E, CRUZ, V. T, DÜRR, A, PRUD'HOMME, J.-F

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New Susceptibility Locus for Rheumatoid Arthritis Suggested by a Genome-Wide Linkage Study von Cornelis, Francois, Faure, Sabine, Martinez, Maria, Jean-Francois Prud'homme, Fritz, Pierre, Dib, Colette, Alves, Helena, Barrera, Pilar, De Vries, Niek, Balsa, Alejandro, Pascual-Salcedo, Dora, Maenaut, Kristin, Westhovens, Rene, Migliorini, Paola, Tran, Tuyet-Hoa, Delaye, Arnaud, Prince, Nathalie, Lefevre, Caroline, Thomas, Gaelle, Poirier, Murielle, Soubigou, Stephane, Alibert, Olivier, Lasbleiz, Sandra, Fouix, Sylvaine, Bouchier, Christiane, Liote, Frederic, Loste, Marie-Noelle, Lepage, Virginia, Charron, Dominique, Gyapay, Gabor, Lopes-Vaz, Antonio, Kuntz, Daniel, Bardin, Thomas, Weissenbach, Jean

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CGI-58/ABHD5 gene is mutated in Dorfman-Chanarin syndrome von Caux, F., Selma, Z. Ben, Laroche, L., Prud'homme, J.F., Fischer, J.

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Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in Two Unrelated Turkish Families von Gücüyener, K., Özgül, Köksal, Paternotte, Caroline, Erdem, H., Prud'homme, J. F., Özgüç, M., Topaloğlu, H.

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Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31 von Baulac, Stéphanie, Picard, Fabienne, Herman, Alexandra, Feingold, Josué, Genin, Emmanuelle, Hirsch, Edouard, Prud'Homme, Jean-François, Baulac, Michel, Brice, Alexis, LeGuern, Eric

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European genetic study on rheumatoid arthritis: Is there a linkage of the interleukin-1 (IL-1), IL-10 or IL-4 genes to RA? von BARRERA, P, FAURE, S, MAENAUT, K, ALVES, H, LOPES-VAZ, A, STRAVOPOULOS, C, SPYROPOULOU, M, FRITZ, P, BARDIN, T, CHARRON, D, LEPAGE, V, ALIBERT, O, PRUD'HOMME, J. F, MARTINEZ, M, CORNELIS, F, BALSA, A, MIGLIORINI, P, CHIMENTI, D, RADSTAKE, T. R, VAN DE PUTTE, L. B, PASCUAL-SALCEDO, D, WESTHOVENS, R

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