Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome von Richard, Gabriele, Rouan, Fatima, Willoughby, Colin E., Brown, Nkecha, Chung, Pil, Ryynänen, Markku, Jabs, Ethylin Wang, Bale, Sherri J., DiGiovanna, John J., Uitto, Jouni, Russell, Laura

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Genetic Heterogeneity in Erythrokeratodermia Variabilis: Novel Mutations in the Connexin Gene GJB4 (Cx30.3) and Genotype-Phenotype Correlations von Richard, Gabriele, Brown, Nkecha, Rouan, Fatima, Campanelli, Carmen, Uitto, Jouni, Van der Schroeff, Jan-Gerrit, Bijlsma, Emilia, Eichenfield, Lawrence F., Sybert, Virginia P., Greer, Kenneth E., Hogan, Peter, Compton, John G., Bale, Sherri J., DiGiovanna, John J.

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trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation von Rouan, F, White, T W, Brown, N, Taylor, A M, Lucke, T W, Paul, D L, Munro, C S, Uitto, J, Hodgins, M B, Richard, G

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Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy von Takahashi, Yoshie, Rouan, Fatima, Uitto, Jouni, Ishida-Yamamoto, Akemi, Iizuka, Hajime, Owaribe, Katsushi, Tanigawa, Mizuko, Ishii, Norito, Yasumoto, Shinichiro, Hashimoto, Takashi

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Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy von Rouan, Fatima, Pulkkinen, Leena, LaForgia, Sal, Hyde, Patrice, Richard, Gabriele, Uitto, Jouni, Meneguzzi, Guerrino, Kim, Dae Un

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Novel ITGB4 Mutations in Lethal and Nonlethal Variants of Epidermolysis Bullosa with Pyloric Atresia: Missense versus Nonsense von Pulkkinen, Leena, Rouan, Fatima, Bruckner-Tuderman, Leena, Wallerstein, Robert, Garzon, Maria, Brown, Tod, Smith, Lynne, Carter, William, Uitto, Jouni

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Disorganization of the Desmin Cytoskeleton and Mitochondrial Dysfunction in Plectin-Related Epidermolysis Bullosa Simplex with Muscular Dystrophy von SCHRÖDER, ROLF, KUNZ, WOLFRAM S, ROUAN, FATIMA, PFENDNER, ELLEN, TOLKSDORF, KAREN, KAPPES-HORN, KARIN, ALTENSCHMIDT-MEHRING, MANUELA, KNOBLICH, RUPERT, VAN DER VEN, PETER F.M, REIMANN, JENS, FÜRST, DIETER O, BLÜMCKE, INGMAR, VIELHABER, STEFAN, ZILLIKENS, DETLEF, EMING, SABINE, KLOCKGETHER, THOMAS, UITTO, JOUNI, WICHE, GERHARD, ROLFS, ARNDT

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A Compound Heterozygous One Amino-Acid Insertion/Nonsense Mutation in the Plectin Gene Causes Epidermolysis Bullosa Simplex with Plectin Deficiency von Bauer, Johann W., Rouan, Fatima, Kofler, Barbara, Rezniczek, Günther A., Kornacker, Iris, Muss, Wolfgang, Hametner, Rudolf, Klausegger, Alfred, Huber, Ariana, Pohla-Gubo, Gabriele, Wiche, Gerhard, Uitto, Jouni, Hintner, Helmut

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Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation von SCHARA, Ulrike, TÜCKE, Jens, SCHRÖDER, Rolf, MORTIER, Wilhelm, NÜSSLEIN, Thomas, ROUAN, Fatima, PFENDNER, Ellen, ZILLIKENS, Detlef, BRUCKNER-TUDERMAN, Leena, UITTO, Jouni, WICHE, Gerhard

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Epidermolysis Bullosa Simplex Associated with Severe Mucous Membrane Involvement and Novel Mutations in the Plectin Gene von Kunz, Manfred, Hamm, Henning, Bröcker, Eva-Bettina, Zillikens, Detlef, Rouan, Fatima, Pulkkinen, Leena, Jeschke, Reinhard, Bruckner-Tuderman, Leena, Wiche, Gerhard, Uitto, Jouni

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Four Novel Plectin Gene Mutations in Japanese Patients with Epidermolysis Bullosa with Muscular Dystrophy Disclosed by Heteroduplex Scanning and Protein Truncation Tests von Takizawa, Yasuko, Shimizu, Hiroshi, Nishikawa, Takeji, Rouan, Fatima, Kawai, Mitsuru, Udono, Masako, Pulkkinen, Leena, Uitto, Jouni

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Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa : Implications for genetic counseling von ROUAN, F, PULKKINEN, L, JONKMAN, M. F, BAUER, J. W, CSERHALMI-FRIEDMAN, P. B, CHRISTIANO, A. M, UITTO, J

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Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-lchthyosis-deafness syndrome von RICHARD, Gabriele, ROUAN, Fatima, RUSSELL, Laura, WILLOUGHBY, Colin E, BROWN, Nkecha, CHUNG, Pil, RYYNÄNEN, Markku, JABS, Ethylin Wang, BALE, Sherri J, DIGIOVANNA, John J, UITTO, Jouni

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Novel and recurrent glycine substitution mutations in COL7A1 in dystrophic epidermolysis bullosa: Genotype/phenotype correlations von Rouan, Fatima, Pulkkinen, Leena, Jonkman, Marcel F., Uitto, Jouni

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Novel andDe Novo Glycine Substitution Mutations in the Type VII Collagen Gene (COL7A1) in Dystrophic Epidermolysis Bullosa: Implications for Genetic Counseling von Rouan, Fatima, Pulkkinen, Leena, Uitto, Jouni, Jonkman, Marcel F., Bauer, Johann W., Cserhalmi-Friedman, Peter B., Christiano, Angela M.

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