First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene
BAULAC, Stéphanie, HUBERFELD, Gilles, GOURFINKEL-AN, Isabelle, MITROPOULOU, Georgia, BERANGER, Alexandre, PRU'DHOMME, Jean-Francois, BAULAC, Michel, BRICE, Alexis, BRUZZONE, Roberto, LEGUERN, Eric
Published in Nature genetics (01.05.2001)
Published in Nature genetics (01.05.2001)
Get full text
Journal Article
Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome
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
Published in American journal of human genetics (01.11.2001)
Published in American journal of human genetics (01.11.2001)
Get full text
Journal Article
ADAM33, a new candidate for psoriasis susceptibility
Lesueur, Fabienne, Oudot, Tiphaine, Heath, Simon, Foglio, Mario, Lathrop, Mark, Prud'homme, Jean-François, Fischer, Judith
Published in PloS one (19.09.2007)
Published in PloS one (19.09.2007)
Get full text
Journal Article
Exploration of the Genetic Architecture of Idiopathic Generalized Epilepsies
Hempelmann, Anne, Taylor, Kirsten P., Heils, Armin, Lorenz, Susanne, Prud'Homme, Jean‐Francois, Nabbout, Rima, Dulac, Olivier, Rudolf, Gabrielle, Zara, Federico, Bianchi, Amedeo, Robinson, Robert, Gardiner, R. Mark, Covanis, Athanasios, Lindhout, Dick, Stephani, Ulrich, Elger, Christian E., Weber, Yvonne G., Lerche, Holger, Nürnberg, Peter, Kron, Katherine L., Scheffer, Ingrid E., Mulley, John C., Berkovic, Samuel F., Sander, Thomas
Published in Epilepsia (Copenhagen) (01.10.2006)
Published in Epilepsia (Copenhagen) (01.10.2006)
Get full text
Journal Article
Confirmation of Psoriasis Susceptibility Loci on Chromosome 6p21 and 20p13 in French Families
Lesueur, Fabienne, Lefèvre, Caroline, Has, Cristina, Guilloud-Bataille, Michel, Oudot, Tiphaine, Mahé, Emmanuel, Lahfa, Morad, Mansouri, Samira, Mosharraf-Olmolk, Haydeh, Sobel, Eric, Heath, Simon, Lathrop, Mark, Dizier, Marie-Hélène, Prud'Homme, Jean-François, Fischer, Judith
Published in Journal of investigative dermatology (01.06.2007)
Published in Journal of investigative dermatology (01.06.2007)
Get full text
Journal Article
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3
Lefèvre, Caroline, Bouadjar, Bakar, Ferrand, Véronique, Tadini, Gianluca, Mégarbané, André, Lathrop, Mark, Prud'homme, Jean-François, Fischer, Judith
Published in Human molecular genetics (01.03.2006)
Published in Human molecular genetics (01.03.2006)
Get full text
Journal Article
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis
Lefèvre, Caroline, Bouadjar, Bakar, Karaduman, Aysen, Jobard, Florence, Saker, Safa, Özguc, Meral, Lathrop, Mark, Prud'homme, Jean-François, Fischer, Judith
Published in Human molecular genetics (15.10.2004)
Published in Human molecular genetics (15.10.2004)
Get full text
Journal Article
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
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
Published in Human molecular genetics (15.09.2003)
Published in Human molecular genetics (15.09.2003)
Get full text
Journal Article
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome
Jobard, Florence, Bouadjar, Bakar, Caux, Frédéric, Hadj-Rabia, Smail, Has, Christina, Matsuda, Fumi, Weissenbach, Jean, Lathrop, Mark, Prud'homme, Jean-François, Fischer, Judith
Published in Human molecular genetics (15.04.2003)
Published in Human molecular genetics (15.04.2003)
Get full text
Journal Article
l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1
Topçu, Meral, Jobard, Florence, Halliez, Sophie, Coskun, Turgay, Yalçinkayal, Cengiz, Gerceker, Filiz Ozbas, Wanders, Ronald J.A., Prud'homme, Jean-François, Lathrop, Mark, Özguc, Meral, Fischer, Judith
Published in Human molecular genetics (15.11.2004)
Published in Human molecular genetics (15.11.2004)
Get full text
Journal Article
New Susceptibility Locus for Rheumatoid Arthritis Suggested by a Genome-Wide Linkage Study
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
Published in Proceedings of the National Academy of Sciences - PNAS (01.09.1998)
Published in Proceedings of the National Academy of Sciences - PNAS (01.09.1998)
Get full text
Journal Article
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
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
Published in Nature genetics (01.11.1999)
Published in Nature genetics (01.11.1999)
Get full text
Journal Article
Mutations in the gene encoding SLURP-1 in Mal de Meleda
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
Published in Human molecular genetics (01.04.2001)
Published in Human molecular genetics (01.04.2001)
Get full text
Journal Article
An Association Study of 22 Candidate Genes in Psoriasis Families Reveals Shared Genetic Factors with Other Autoimmune and Skin Disorders
Oudot, Tiphaine, Lesueur, Fabienne, Guedj, Mickaël, de Cid, Rafael, McGinn, Steven, Heath, Simon, Foglio, Mario, Prum, Bernard, Lathrop, Mark, Prud'homme, Jean-François, Fischer, Judith
Published in Journal of investigative dermatology (01.11.2009)
Published in Journal of investigative dermatology (01.11.2009)
Get full text
Journal Article
A locus for simple pure febrile seizures maps to chromosome 6q22–q24
Nabbout, Rima, Prud’homme, Jean‐François, Herman, Alexandra, Feingold, Josué, Brice, Alexis, Dulac, Olivier, LeGuern, Eric
Published in Brain (London, England : 1878) (01.12.2002)
Published in Brain (London, England : 1878) (01.12.2002)
Get full text
Journal Article
Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31
Baulac, Stéphanie, Picard, Fabienne, Herman, Alexandra, Feingold, Josué, Genin, Emmanuelle, Hirsch, Edouard, Prud'Homme, Jean-François, Baulac, Michel, Brice, Alexis, LeGuern, Eric
Published in Annals of neurology (01.06.2001)
Published in Annals of neurology (01.06.2001)
Get full text
Journal Article
Genome search for susceptibility loci of common idiopathic generalised epilepsies
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
Published in Human molecular genetics (12.06.2000)
Published in Human molecular genetics (12.06.2000)
Get full text
Journal Article
Linkage Analysis and Disease Models in Benign Familial Infantile Seizures: A Study of 16 Families
Striano, Pasquale, Lispi, Maria Luisa, Gennaro, Elena, Madia, Francesca, Traverso, Monica, Bordo, Laura, Aridon, Paolo, Boneschi, Filippo Martinelli, Barone, Baldassare, Bernardina, Bernardo dalla, Bianchi, Amedeo, Capovilla, Giuseppe, De Marco, Pasquale, Dulac, Olivier, Gaggero, Roberto, Gambardella, Antonio, Nabbout, Rima, Prud'homme, Jean‐François, Day, Ruth, Vanadia, Francesca, Vecchi, Marilena, Veggiotti, Pierangelo, Vigevano, Federico, Viri, Maurizio, Minetti, Carlo, Zara, Federico
Published in Epilepsia (Copenhagen) (01.06.2006)
Published in Epilepsia (Copenhagen) (01.06.2006)
Get full text
Journal Article
Novel Mutations in the Gene Encoding Secreted Lymphocyte Antigen-6/Urokinase-type Plasminogen Activator Receptor-related Protein-1 (SLURP-1) and Description of Five Ancestral Haplotypes in Patients with Mal de Meleda
Marrakchi, Slaheddine, Zahaf, Abdelmadjid, Turki, Hamida, Audebert, Stéphanie, Bouadjar, Bakar, Has, Christina, Lefèvre, Caroline, Munro, Colin, Cure, Susan, Jobard, Florence, Morlot, Susanne, Hohl, Daniel, Prud'homme, Jean-François, Fischer, Judith
Published in Journal of investigative dermatology (01.03.2003)
Published in Journal of investigative dermatology (01.03.2003)
Get full text
Journal Article
Two New Loci for Autosomal Recessive Ichthyosis on Chromosomes 3p21 and 19p12-q12 and Evidence for Further Genetic Heterogeneity
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
Published in American journal of human genetics (01.03.2000)
Published in American journal of human genetics (01.03.2000)
Get full text
Journal Article