Search Results - "Jean-Francois Prud'homme"

First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene by BAULAC, Stéphanie, HUBERFELD, Gilles, GOURFINKEL-AN, Isabelle, MITROPOULOU, Georgia, BERANGER, Alexandre, PRU'DHOMME, Jean-Francois, BAULAC, Michel, BRICE, Alexis, BRUZZONE, Roberto, LEGUERN, Eric

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Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome by 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

“…Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive form of nonbullous congenital ichthyosiform erythroderma (NCIE) that is characterized by the…”
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ADAM33, a new candidate for psoriasis susceptibility by Lesueur, Fabienne, Oudot, Tiphaine, Heath, Simon, Foglio, Mario, Lathrop, Mark, Prud'homme, Jean-François, Fischer, Judith

“…Psoriasis is a chronic skin disorder with multifactorial etiology. In a recent study, we reported results of a genome-wide scan on 46 French extended families…”
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Exploration of the Genetic Architecture of Idiopathic Generalized Epilepsies by 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

“…Purpose: Idiopathic generalized epilepsy (IGE) accounts for ∼20% of all epilepsies and affects about 0.2% of the general population. The etiology of IGE is…”
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Confirmation of Psoriasis Susceptibility Loci on Chromosome 6p21 and 20p13 in French Families by 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

“…Plaque psoriasis is a chronic inflammatory disorder of the skin. It is inherited as a multifactorial trait, with a strong genetic component. Linkage studies…”
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Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3 by Lefèvre, Caroline, Bouadjar, Bakar, Ferrand, Véronique, Tadini, Gianluca, Mégarbané, André, Lathrop, Mark, Prud'homme, Jean-François, Fischer, Judith

“…We report the identification of mutations in a non-syndromic autosomal recessive congenital ichthyosis (ARCI) in a new gene mapping within a previously…”
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Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis by Lefèvre, Caroline, Bouadjar, Bakar, Karaduman, Aysen, Jobard, Florence, Saker, Safa, Özguc, Meral, Lathrop, Mark, Prud'homme, Jean-François, Fischer, Judith

“…We report the genomic localization by homozygosity mapping and the identification of a gene for a new form of non-syndromic autosomal recessive congenital…”
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Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2 by 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

“…Lamellar ichthyosis type 2 (LI2) is a rare autosomal recessive skin disorder for which a gene has been localized on chromosome 2q33–35. We report the…”
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Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome by Jobard, Florence, Bouadjar, Bakar, Caux, Frédéric, Hadj-Rabia, Smail, Has, Christina, Matsuda, Fumi, Weissenbach, Jean, Lathrop, Mark, Prud'homme, Jean-François, Fischer, Judith

“…Kindler syndrome is a rare autosomal-recessive genodermatosis characterized by bullous poikiloderma with photosensitivity. We report the localization to…”
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l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1 by 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

“…l-2-Hydroxyglutaric aciduria (l-2-HGA) is characterized by progressive deterioration of central nervous system function including epilepsy and macrocephaly in…”
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Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia by 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

“…Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a genetically heterogeneous neurodegenerative disorder characterized by progressive spasticity of…”
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Mutations in the gene encoding SLURP-1 in Mal de Meleda by 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

“…Mal de Meleda (MDM) is a rare autosomal recessive skin disorder, characterized by transgressive palmoplantar keratoderma (PPK), keratotic skin lesions,…”
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PARTIDOS Y SISTEMA DE PARTIDOS EN LAS ELECCIONES MEXICANAS DE 2018 by Prud’homme, Jean-François

“…Este artículo analiza los cambios que afectaron a los partidos y al sistema de partidos mexicanos durante el sexenio del presidente Enrique Peña Nieto. Durante…”
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An Association Study of 22 Candidate Genes in Psoriasis Families Reveals Shared Genetic Factors with Other Autoimmune and Skin Disorders by 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

“…Psoriasis is a common inflammatory and hyperproliferative skin disease. Recent studies have reported that common genetic factors may underlie both skin and…”
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A locus for simple pure febrile seizures maps to chromosome 6q22–q24 by Nabbout, Rima, Prud’homme, Jean‐François, Herman, Alexandra, Feingold, Josué, Brice, Alexis, Dulac, Olivier, LeGuern, Eric

“…Febrile seizures (FS) syndromes exhibit major clinical and genetic heterogeneity. We report a clinical and genetic study of three families with simple FS…”
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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 by Baulac, Stéphanie, Picard, Fabienne, Herman, Alexandra, Feingold, Josué, Genin, Emmanuelle, Hirsch, Edouard, Prud'Homme, Jean-François, Baulac, Michel, Brice, Alexis, LeGuern, Eric

“…We report a clinical and genetic study of a French family among whom febrile convulsions (FC) are associated with subsequent temporal lobe epilepsy (TLE) in…”
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Genome search for susceptibility loci of common idiopathic generalised epilepsies by 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

“…Genetic factors play a major role in the aetiology of idiopathic generalised epilepsies (IGEs). The present genome scan was designed to identify susceptibility…”
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Linkage Analysis and Disease Models in Benign Familial Infantile Seizures: A Study of 16 Families by 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

“…Purpose: Benign familial infantile seizures (BFIS) is a genetically heterogeneous condition characterized by partial seizures, onset age from 3 to 9 months,…”
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LA INSATISFACCIÓN CON LA DEMOCRACIA EN EL MÉXICO ACTUAL by Prud'homme, Jean-François

“…A finales del sexenio del presidente Calderón, varias encuestas de opinión dieron cuenta de un bajo grado de satisfacción con la democracia en México. El…”
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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 by 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

“…Mal de Meleda is a recessive, transgressive palmoplantar keratoderma for which we previously identified mutations in the gene encoding secreted lymphocyte…”
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