Clues to epidermal cancer proneness revealed by reconstruction of DNA repair-deficient xeroderma pigmentosum skin in vitro

par Bernerd, Françoise, Asselineau, Daniel, Vioux, Corinne, Chevallier-Lagente, Odile, Bouadjar, Bakar, Sarasin, Alain, Magnaldo, Thierry
Publié 2001

High levels of patched gene mutations in basal-cell carcinomas from patients with xeroderma pigmentosum

par Bodak, Nathalie, Queille, Sophie, Avril, Marie Françoise, Bouadjar, Bakar, Drougard, Christiane, Sarasin, Alain, Daya-Grosjean, Leela
Publié 1999

Mutations in the Fatty Acid Transport Protein 4 Gene Cause the Ichthyosis Prematurity Syndrome

par Klar, Joakim, Schweiger, Martina, Zimmerman, Robert, Zechner, Rudolf, Li, Hao, Törmä, Hans, Vahlquist, Anders, Bouadjar, Bakar, Dahl, Niklas, Fischer, Judith
Publié 2009

Two New Loci for Autosomal Recessive Ichthyosis on Chromosomes 3p21 and 19p12-q12 and Evidence for Further Genetic Heterogeneity

par 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
Publié 2000

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

par 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
Publié 2001

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients

par Hotz, Alrun, Kopp, Julia, Bourrat, Emmanuelle, Oji, Vinzenz, Komlosi, Katalin, Giehl, Kathrin, Bouadjar, Bakar, Bygum, Anette, Tantcheva-Poor, Iliana, Hellström Pigg, Maritta, Has, Cristina, Yang, Zhou, Irvine, Alan D., Betz, Regina C., Zambruno, Giovanna, Tadini, Gianluca, Süßmuth, Kira, Gruber, Robert, Schmuth, Matthias, Mazereeuw-Hautier, Juliette, Jonca, Natalie, Guez, Sophie, Brena, Michela, Hernandez-Martin, Angela, van den Akker, Peter, Bolling, Maria C., Hannula-Jouppi, Katariina, Zimmer, Andreas D., Alter, Svenja, Vahlquist, Anders, Fischer, Judith
Publié dans Genes (Basel) (2021)