Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome
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Published in American journal of human genetics (01.11.2001)
Published in American journal of human genetics (01.11.2001)
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A Radiation Hybrid Map of the Human Genome
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Published in Human molecular genetics (01.03.1996)
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Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
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Published in Nature genetics (01.11.1999)
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Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large basque pedigree linked to chromosome 10q
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Published in Annals of neurology (01.02.1999)
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A Second Locus for Familial Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2q21-q33
Baulac, Stéphanie, Gourfinkel-An, Isabelle, Picard, Fabienne, Rosenberg-Bourgin, Myriam, Prud'homme, Jean-François, Baulac, Michel, Brice, Alexis, LeGuern, Eric
Published in American journal of human genetics (01.10.1999)
Published in American journal of human genetics (01.10.1999)
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Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
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
Published in Human molecular genetics (01.03.2000)
Published in Human molecular genetics (01.03.2000)
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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)
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Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity
Parmentier, L, Blanchet-Bardon, C, Nguyen, S, Prud'homme, J F, Dubertret, L, Weissenbach, J
Published in Human molecular genetics (01.08.1995)
Published in Human molecular genetics (01.08.1995)
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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)
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Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families
Gücüyener, K, Ozgül, K, Paternotte, C, Erdem, H, Prud'homme, J F, Ozgüç, M, Topaloğlu, H
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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?
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
Published in Clinical and experimental rheumatology (01.11.2001)
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Published in Clinical and experimental rheumatology (01.11.2001)
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CGI-58/ABHD5 gene is mutated in Dorfman-Chanarin syndrome
Caux, F., Selma, Z. Ben, Laroche, L., Prud'homme, J.F., Fischer, J.
Published in American journal of medical genetics. Part A (30.08.2004)
Published in American journal of medical genetics. Part A (30.08.2004)
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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)
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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)
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No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 5 in families with typical absence seizures
Windemuth, C, Schulz, H, Saar, K, Gennaro, E, Bianchi, A, Zara, F, Bulteau, C, Kaminska, A, Ville, D, Cieuta, C, Nabbout-Tarantino, R, Prud'homme, J.-F, Dulac, O, Bate, L, Gardiner, R.M, Lindhout, D, Wienker, T.F, Janz, D, Sander, T
Published in Epilepsy research (01.09.2002)
Published in Epilepsy research (01.09.2002)
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A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21
Stevanin, G, Paternotte, C, Coutinho, P, Klebe, S, Elleuch, N, Loureiro, J L, Denis, E, Cruz, V T, Dürr, A, Prud'homme, J-F, Weissenbach, J, Brice, A, Hazan, J
Published in Neurology (22.05.2007)
Published in Neurology (22.05.2007)
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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
Jobard, Florence, Lefèvre, Caroline, Karaduman, Aysen, Blanchet-Bardon, Claudine, Emre, Serap, Weissenbach, Jean, Ozgüc, Meral, Lathrop, Mark, Prud'homme, Jean-François, Fischer, Judith
Published in Human molecular genetics (01.01.2002)
Published in Human molecular genetics (01.01.2002)
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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)
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Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy
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
Published in Human molecular genetics (01.05.2002)
Published in Human molecular genetics (01.05.2002)
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Immunohistochemistry of pS2 in normal human breast and in various histological forms of breast tumours
Pallud, C, Le Doussal, V, Pichon, M F, Prud'homme, J F, Hacene, K, Milgrom, E
Published in Histopathology (01.09.1993)
Published in Histopathology (01.09.1993)
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