Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis von Richard, Gabriele, Bale, Sherri J, Smith, Lisa E, Bailey, Regina A, Itin, Peter, Hohl, Daniel, Epstein, Ervin H, DiGiovanna, John J, Compton, John G

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Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis von Russell, Laura J, DiGiovanna, John J, Rogers, Geraldine R, Steinert, Peter M, Hashem, Nemat, Compton, John G, Bale, Sherri J

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Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma von RICHARD, G, WHITE, T. W, SMITH, L. E, BAILEY, R. A, COMPTON, J. G, PAUL, D. L, BALE, S. J

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Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene von Hamrock, David J, Marekov, Lyuben N, Laurenzi, Vincenzo De, Rizzo, William B, Rogers, Geraldine R, Steinert, Peter M, Markova, Nelli, Compton, John G

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A leucine→proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis von Chipev, Constantin C., Korge, Bernhard P., Markova, Nedialka, Bale, Sherri J., DiGiovanna, John J., Compton, John G., Steinert, Peter M.

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Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q von RUSSELL, L. J, DIGIOVANNA, J. J, HASHEM, N, COMPTON, J. G, BALE, S. J

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Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico von Gahl, William A, Anikster, Yair, Huizing, Marjan, White, James, Shevchenko, Yuriy O, Fitzpatrick, Diana L, Touchman, Jeffrey W, Compton, John G, Bale, Sherri J, Swank, Richard T, Toro, Jorge R

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Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis von CHIPEV, C. C, JUN-MO YANG, DIGIOVANNA, J. J, STEINERT, P. M, MAREKOV, L, COMPTON, J. G, BALE, S. J

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Physical Mapping of a Functional Cluster of Epidermal Differentiation Genes on Chromosome 1q21 von Volz, Armin, Korge, Bernhard P., Compton, John G., Ziegler, Andreas, Steinert, Peter M., Mischke, Dietmar

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Genomic Organization and Expression of the Human Fatty Aldehyde Dehydrogenase Gene (FALDH) von Rogers, Geraldine R., Markova, Nedialka G., De Laurenzi, Vincenzo, Rizzo, William B., Compton, John G.

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Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies von SHEVCHENKO, Y. O, COMPTON, J. G, TORO, J. R, DIGIOVANNA, J. J, BALE, S. J

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Concurrence between the Molecular Overlap Regions in Keratin Intermediate Filaments and the Locations of Keratin Mutations in Genodermatoses von Steinert, P.M., Yang, J.M., Bale, S.J., Compton, J.G.

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Development of a new low cost high sensitivity system for behavioural ecotoxicity testing von Mills, Chris Lloyd, Shukla, Deepa H., Compton, Graham J.

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Mutation Screening Using Automated Bidirectional Dideoxy Fingerprinting von Shevchenko, Yuriy O, Bale, Sherri J, Compton, John G

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Mutations in the H1 and 1A Domains in the Keratin 1 Gene in Epidermolytic Hyperkeratosis von Yang, Jun-Mo, Chipev, Constantin C., DiGiovanna, John J., Bale, Sherri J., Marekov, Lyuben N., Steinert, Peter M., Compton, John G

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An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities von Kaminsky, Erin B, Kaul, Vineith, Paschall, Justin, Church, Deanna M, Bunke, Brian, Kunig, Dawn, Moreno-De-Luca, Daniel, Moreno-De-Luca, Andres, Mulle, Jennifer G, Warren, Stephen T, Richard, Gabriele, Compton, John G, Fuller, Amy E, Gliem, Troy J, Huang, Shuwen, Collinson, Morag N, Beal, Sarah J, Ackley, Todd, Pickering, Diane L, Golden, Denae M, Aston, Emily, Whitby, Heidi, Shetty, Shashirekha, Rossi, Michael R, Rudd, M Katharine, South, Sarah T, Brothman, Arthur R, Sanger, Warren G, Iyer, Ramaswamy K, Crolla, John A, Thorland, Erik C, Aradhya, Swaroop, Ledbetter, David H, Martin, Christa L

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A Highly Conserved Lysine Residue on the Head Domain of Type II Keratins is Essential for the Attachment of Keratin Intermediate Filaments to the Cornified cell Envelope through Is... von Candi, Eleonora, Tarcsa, Edit, Digiovanna, John J., Compton, John G., Elias, Peter M., Marekov, Lyuben N., Steinert, Peter M.

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Hailey-Hailey Disease Maps to a 5 cM Interval on Chromosome 3q21-q24 von Richard, Gabriela, Korge, Bernhard P., Wright, Andrea R., Mazzanti, Cinzia, Harth, Wolfgang, Annicchiarico-Petruzzelli, Margherita, Compton, John G., Bale, Sherri J.

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Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris von McLean, W H Irwin, Smith, Frances J D, Irvine, Alan D, Terron-Kwiatkowski, Ana, Sandilands, Aileen, Campbell, Linda E, Zhao, Yiwei, Liao, Haihui, Evans, Alan T, Goudie, David R, Lewis-Jones, Sue, Arseculeratne, Gehan, Munro, Colin S, Sergeant, Ann, O'Regan, Gráinne, Bale, Sherri J, Compton, John G, DiGiovanna, John J, Presland, Richard B, Fleckman, Philip

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Genetic homogeneity in Sjögren-Larsson syndrome : linkage to chromosome 17p in families of different non-Swedish ethnic origins von ROGERS, G. R, RIZZO, W. B, ZLOTOGORSKI, A, NEMAT HASHEM, MINJOO LEE, COMPTON, J. G, BALE, S. J

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