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Journal Abstract Search

130 related items for PubMed ID: 23290002

  • 1. 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
    [No Abstract] [Full Text] [Related]

  • 2. Mal de Meleda in Indonesia: Mutations in the SLURP1 gene appear to be ubiquitous.
    Taylor JA, Bondavalli D, Monif M, Yap LM, Winship I.
    Australas J Dermatol; 2016 Feb; 57(1):e11-3. PubMed ID: 25557416
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. A novel mutation in SLURP1 in patients with mal de Meleda from the Indian subcontinent.
    Nellen RG, Claessens T, Subramaniam R, Betkerur J, Prashanth A, Steijlen PM, van Geel M.
    J Dermatol Sci; 2015 Oct; 80(1):76-8. PubMed ID: 26254200
    [No Abstract] [Full Text] [Related]

  • 5. Comment on Zhao et al. "Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda".
    Nellen RG, Steijlen PM, van Geel M, van Steensel MA.
    Acta Derm Venereol; 2015 Nov; 95(8):1034-5. PubMed ID: 26139149
    [No Abstract] [Full Text] [Related]

  • 6. A Japanese case of Mal de Meleda with SLURP1 mutation.
    Sakabe J, Kabashima-Kubo R, Kubo A, Sasaki T, Tokura Y.
    J Dermatol; 2014 Aug; 41(8):764-5. PubMed ID: 24985918
    [No Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Identification of novel homozygous SLURP1 mutation in a Javanese family with Mal de Meleda.
    Radiono S, Pramono ZAD, Oh GGK, Surana U, Widiyani S, Danarti R.
    Int J Dermatol; 2017 Nov; 56(11):1161-1168. PubMed ID: 29023701
    [Abstract] [Full Text] [Related]

  • 9. The first Mal de Meleda case in Libya: identification of a SLURP1 mutation.
    Bchetnia M, Bozgia M, Laroussi N, Ben Brick AS, Charfeddine C, Ben Halim N, Mokni M, Boubaker MS, Abdelhak S.
    Int J Dermatol; 2015 Dec; 54(12):1426-8. PubMed ID: 24738704
    [No Abstract] [Full Text] [Related]

  • 10. SLURP1 is a late marker of epidermal differentiation and is absent in Mal de Meleda.
    Favre B, Plantard L, Aeschbach L, Brakch N, Christen-Zaech S, de Viragh PA, Sergeant A, Huber M, Hohl D.
    J Invest Dermatol; 2007 Feb; 127(2):301-8. PubMed ID: 17008884
    [Abstract] [Full Text] [Related]

  • 11. Identification of a novel compound heterozygous mutation and a homozygous mutation of SLURP1 in Chinese families with Mal de Meleda.
    Wang T, Tang Z, Xiao T, Ren J, He S, Liu Y, Xiao S, Wang X.
    BMC Med Genomics; 2023 Jul 01; 16(1):152. PubMed ID: 37393290
    [Abstract] [Full Text] [Related]

  • 12. A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype.
    Gruber R, Hennies HC, Romani N, Schmuth M.
    Arch Dermatol; 2011 Jun 01; 147(6):748-50. PubMed ID: 21690549
    [No Abstract] [Full Text] [Related]

  • 13. Gene Symbol: ars. Disease: Mal de Meleda.
    Abdelhak S, Charfeddine C, Mokni M, Mousli RB, Elkares R, Bouchlaka C, Boubaker S, Ghedamsi S, Baccouche D, Osman AB, Dellagi K.
    Hum Genet; 2004 May 01; 114(6):609. PubMed ID: 15176391
    [No Abstract] [Full Text] [Related]

  • 14. Heterogeneity in the properties of mutant secreted lymphocyte antigen 6/urokinase receptor-related protein 1 (SLURP1) in Mal de Meleda.
    Adeyo O, Oberer M, Ploug M, Fong LG, Young SG, Beigneux AP.
    Br J Dermatol; 2015 Oct 01; 173(4):1066-9. PubMed ID: 25919322
    [No Abstract] [Full Text] [Related]

  • 15. 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 01; 120(1):96-8. PubMed ID: 12535203
    [Abstract] [Full Text] [Related]

  • 16. Mal de Meleda without mutations in the ARS coding sequence.
    van Steensel MA, van Geel MV, Steijlen PM.
    Eur J Dermatol; 2002 Jan 01; 12(2):129-32. PubMed ID: 11872406
    [Abstract] [Full Text] [Related]

  • 17. Reply to Nellen et al's comment on the classification of clinical/genetic variants of Mal de Meleda.
    Zhao L, Vahlquist A, Virtanen M, Wennerstrand L, Lind LK, Lundström A, Pigg MH.
    Acta Derm Venereol; 2015 Nov 01; 95(8):1034-5. PubMed ID: 26844309
    [No Abstract] [Full Text] [Related]

  • 18. Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda.
    Zhao L, Vahlquist A, Virtanen M, Wennerstrand L, Lind LK, Lundström A, Hellström Pigg M.
    Acta Derm Venereol; 2014 Nov 01; 94(6):707-10. PubMed ID: 24604124
    [Abstract] [Full Text] [Related]

  • 19. 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 Nov 01; 2013():206803. PubMed ID: 24093092
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 160(4):878-80. PubMed ID: 19120323
    [No Abstract] [Full Text] [Related]

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