Plectin defects in epidermolysis bullosa simplex with muscular dystrophy
McMillan, J.R., Akiyama, M., Rouan, F., Mellerio, J.E., Lane, E.B., Leigh, I.M., Owaribe, K., Wiche, G., Fujii, N., Uitto, J., Eady, R.A.J., Shimizu, H.
Published in Muscle & nerve (01.01.2007)
Published in Muscle & nerve (01.01.2007)
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Journal Article
Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro
Rouan, F., Lo, C. W., Fertala, A., Wahl, M., Jost, M., Rodeck, U., Uitto, J., Richard, G.
Published in Experimental dermatology (01.04.2003)
Published in Experimental dermatology (01.04.2003)
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Journal Article
Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa : Implications for genetic counseling
ROUAN, F, PULKKINEN, L, JONKMAN, M. F, BAUER, J. W, CSERHALMI-FRIEDMAN, P. B, CHRISTIANO, A. M, UITTO, J
Published in Journal of investigative dermatology (01.12.1998)
Published in Journal of investigative dermatology (01.12.1998)
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Journal Article
Dominant Dystrophic Epidermolysis Bullosa (Pasini) Caused by a Novel Glycine Substitution Mutation in the Type VII Collagen Gene (COL7A1)
Jonkman, M.F., Moreno, G., Rouan, F., Oranje, A.P., Pulkkinen, L., Uitto, J.
Published in Journal of investigative dermatology (01.05.1999)
Published in Journal of investigative dermatology (01.05.1999)
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Journal Article
Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome
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
Published in American journal of human genetics (01.05.2002)
Published in American journal of human genetics (01.05.2002)
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Journal Article
trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation
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
Published in Journal of cell science (01.06.2001)
Published in Journal of cell science (01.06.2001)
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Journal Article
Genetic Heterogeneity in Erythrokeratodermia Variabilis: Novel Mutations in the Connexin Gene GJB4 (Cx30.3) and Genotype-Phenotype Correlations
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.
Published in Journal of investigative dermatology (01.04.2003)
Published in Journal of investigative dermatology (01.04.2003)
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Journal Article
Novel ITGB4 Mutations in Lethal and Nonlethal Variants of Epidermolysis Bullosa with Pyloric Atresia: Missense versus Nonsense
Pulkkinen, Leena, Rouan, Fatima, Bruckner-Tuderman, Leena, Wallerstein, Robert, Garzon, Maria, Brown, Tod, Smith, Lynne, Carter, William, Uitto, Jouni
Published in American journal of human genetics (01.11.1998)
Published in American journal of human genetics (01.11.1998)
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Journal Article
Disorganization of the Desmin Cytoskeleton and Mitochondrial Dysfunction in Plectin-Related Epidermolysis Bullosa Simplex with Muscular Dystrophy
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
Published in Journal of neuropathology and experimental neurology (01.06.2002)
Published in Journal of neuropathology and experimental neurology (01.06.2002)
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Journal Article
A Compound Heterozygous One Amino-Acid Insertion/Nonsense Mutation in the Plectin Gene Causes Epidermolysis Bullosa Simplex with Plectin Deficiency
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
Published in The American journal of pathology (01.02.2001)
Published in The American journal of pathology (01.02.2001)
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Journal Article
Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation
SCHARA, Ulrike, TÜCKE, Jens, SCHRÖDER, Rolf, MORTIER, Wilhelm, NÜSSLEIN, Thomas, ROUAN, Fatima, PFENDNER, Ellen, ZILLIKENS, Detlef, BRUCKNER-TUDERMAN, Leena, UITTO, Jouni, WICHE, Gerhard
Published in European journal of pediatrics (01.04.2004)
Published in European journal of pediatrics (01.04.2004)
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Journal Article
Epidermolysis Bullosa Simplex Associated with Severe Mucous Membrane Involvement and Novel Mutations in the Plectin Gene
Kunz, Manfred, Hamm, Henning, Bröcker, Eva-Bettina, Zillikens, Detlef, Rouan, Fatima, Pulkkinen, Leena, Jeschke, Reinhard, Bruckner-Tuderman, Leena, Wiche, Gerhard, Uitto, Jouni
Published in Journal of investigative dermatology (01.02.2000)
Published in Journal of investigative dermatology (01.02.2000)
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Journal Article
Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy
Rouan, Fatima, Pulkkinen, Leena, LaForgia, Sal, Hyde, Patrice, Richard, Gabriele, Uitto, Jouni, Meneguzzi, Guerrino, Kim, Dae Un
Published in Journal of investigative dermatology (01.02.2000)
Published in Journal of investigative dermatology (01.02.2000)
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Journal Article
Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy
Takahashi, Yoshie, Rouan, Fatima, Uitto, Jouni, Ishida-Yamamoto, Akemi, Iizuka, Hajime, Owaribe, Katsushi, Tanigawa, Mizuko, Ishii, Norito, Yasumoto, Shinichiro, Hashimoto, Takashi
Published in Journal of dermatological science (01.02.2005)
Published in Journal of dermatological science (01.02.2005)
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Journal Article
Four Novel Plectin Gene Mutations in Japanese Patients with Epidermolysis Bullosa with Muscular Dystrophy Disclosed by Heteroduplex Scanning and Protein Truncation Tests
Takizawa, Yasuko, Shimizu, Hiroshi, Nishikawa, Takeji, Rouan, Fatima, Kawai, Mitsuru, Udono, Masako, Pulkkinen, Leena, Uitto, Jouni
Published in Journal of investigative dermatology (01.01.1999)
Published in Journal of investigative dermatology (01.01.1999)
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Journal Article
Conference Proceeding
Mutation reports: epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene
Kunz, M, Rouan, F, Pulkkinen, L, Hamm, H, Jeschke, R, Bruckner-Tuderman, L, Bröcker, E B, Wiche, G, Uitto, J, Zillikens, D
Published in Journal of investigative dermatology (01.02.2000)
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Published in Journal of investigative dermatology (01.02.2000)
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