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Journal Abstract Search

176 related items for PubMed ID: 12787122

  • 1. A recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: evidence of a founder effect.
    Hu G, Yildirim M, Baysal V, Yerebakan O, Yilmaz E, Inaloz HS, Martinez-Mir A, Christiano AM, Celebi JT.
    J Invest Dermatol; 2003 Jun; 120(6):967-9. PubMed ID: 12787122
    [Abstract] [Full Text] [Related]

  • 2. Identification of recurrent mutations in the ARS (component B) gene encoding SLURP-1 in two families with mal de Meleda.
    Ward KM, Yerebakan O, Yilmaz E, Celebi JT.
    J Invest Dermatol; 2003 Jan; 120(1):96-8. PubMed ID: 12535203
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  • 3. Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda.
    Marrakchi S, Audebert S, Bouadjar B, Has C, Lefèvre C, Munro C, Cure S, Jobard F, Morlot S, Hohl D, Prud'homme JF, Zahaf A, Turki H, Fischer J.
    J Invest Dermatol; 2003 Mar; 120(3):351-5. PubMed ID: 12603845
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  • 4. A novel mutation in the ARS (component B) gene encoding SLURP-1 in a Turkish family with mal de Meleda.
    Muslumanoglu MH, Saracoglu N, Cilingir O, Basmaci T, Urer S, Sabuncu I, Demir S, Bademci G, Artan S.
    Br J Dermatol; 2006 Aug; 155(2):467-9. PubMed ID: 16882192
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  • 5. Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates.
    Eckl KM, Stevens HP, Lestringant GG, Westenberger-Treumann M, Traupe H, Hinz B, Frossard PM, Stadler R, Leigh IM, Nürnberg P, Reis A, Hennies HC.
    Hum Genet; 2003 Jan; 112(1):50-6. PubMed ID: 12483299
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  • 6. A novel mutation in the ARS (component B) gene encoding SLURP-1 in a family with Mal de Meleda.
    Yerebakan O, Hu G, Yilmaz E, Celebi JT.
    Clin Exp Dermatol; 2003 Sep; 28(5):542-4. PubMed ID: 12950349
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  • 10. Pseudodominant inheritance with the G86R mutation in the ARS gene in Mal de Meleda.
    Chao SC, Huang CY, Lai FJ, Yang MH.
    Int J Dermatol; 2006 Dec; 45(12):1456-8. PubMed ID: 17184264
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  • 11. Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region.
    Bchetnia M, Laroussi N, Youssef M, Charfeddine C, Ben Brick AS, Boubaker MS, Mokni M, Abdelhak S, Zili J, Benmously R.
    Biomed Res Int; 2013 Dec; 2013():206803. PubMed ID: 24093092
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  • 12. A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia.
    Charfeddine C, Mokni M, Ben Mousli R, Elkares R, Bouchlaka C, Boubaker S, Ghedamsi S, Baccouche D, Ben Osman A, Dellagi K, Abdelhak S.
    Br J Dermatol; 2003 Dec; 149(6):1108-15. PubMed ID: 14674887
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  • 13. Compound heterozygosity for ARS component B mutations in a Dutch patient with mal de Meleda.
    Nellen RG, van Geel M, Steijlen PM, van Steensel MA.
    Br J Dermatol; 2009 Apr; 160(4):878-80. PubMed ID: 19120323
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  • 14. Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 gene.
    Nellen RG, Steijlen PM, Hennies HC, Fischer J, Munro CS, Jonkman MF, van Steensel MA, van Geel M.
    Br J Dermatol; 2013 Jun; 168(6):1372-4. PubMed ID: 23290002
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  • 18. Mutations in the SLURP-1 gene underlie Mal de Meleda in three Pakistani families.
    Wajid M, Kurban M, Shimomura Y, Christiano AM.
    J Dermatol Sci; 2009 Oct; 56(1):27-32. PubMed ID: 19692209
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  • 19. ARS Component B: structural characterization, tissue expression and regulation of the gene and protein (SLURP-1) associated with Mal de Meleda.
    Mastrangeli R, Donini S, Kelton CA, He C, Bressan A, Milazzo F, Ciolli V, Borrelli F, Martelli F, Biffoni M, Serlupi-Crescenzi O, Serani S, Micangeli E, El Tayar N, Vaccaro R, Renda T, Lisciani R, Rossi M, Papoian R.
    Eur J Dermatol; 2003 Oct; 13(6):560-70. PubMed ID: 14721776
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