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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Journal Article
L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings
Haliloglu, G, Jobard, F, Oguz, K K, Anlar, B, Akalan, N, Coskun, T, Sass, J O, Fischer, J, Topcu, M
Published in Neuropediatrics (01.04.2008)
Published in Neuropediatrics (01.04.2008)
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Journal Article
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1
JOBARD, Florence, LEFEVRE, Caroline, KARADUMAN, Aysen, BLANCHET-BARDON, Claudine, EMRE, Serap, WEISSENBACH, Jean, ÖZGÜC, Meral, LATHROP, Mark, PRUD'HOMME, Jean-Francois, FISCHER, Judith
Published in Human molecular genetics (2002)
Published in Human molecular genetics (2002)
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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)
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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)
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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)
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Journal Article
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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Journal Article
A p.C217R Mutation in Fibulin-5 from Cutis Laxa Patients Is Associated with Incomplete Extracellular Matrix Formation in a Skin Equivalent Model
Claus, Stephanie, Fischer, Judith, Mégarbané, Hala, Mégarbané, André, Jobard, Florence, Debret, Romain, Peyrol, Simone, Saker, Safa, Devillers, Martine, Sommer, Pascal, Damour, Odile
Published in Journal of investigative dermatology (01.06.2008)
Published in Journal of investigative dermatology (01.06.2008)
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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)
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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)
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Journal Article
Novel Point Mutations, Deletions, and Polymorphisms in the Cathepsin C Gene in Nine Families from Europe and North Africa with Papillon–Lefèvre Syndrome
Blanchet-Bardon, Claudine, Bouadjar, Bakar, Stalder, Jean-François, Cure, Susan, Prud'Homme, Jean-François, Lefèvre, Caroline, Jobard, Florence, Hoffmann, Aude, Fischer, Judith
Published in Journal of investigative dermatology (01.12.2001)
Published in Journal of investigative dermatology (01.12.2001)
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Journal Article
C36 - Étude génétique du psoriasis : confirmation de la présence de gènes de prédisposition en 6p21 et 20p12 dans les familles françaises et exclusion de gènes candidats par étude d’association
Lesueur, F., Oudot, T., Lefevre, C., Foglio, M., Jobard, F., Heath, S., Lathrop, M., Prud’homme, J., Fischer, J.
Published in Annales de dermatologie et de vénéréologie (01.10.2005)
Published in Annales de dermatologie et de vénéréologie (01.10.2005)
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