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Journal Abstract Search

234 related items for PubMed ID: 11558869

  • 1. Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression.
    Virtanen M, Gedde-Dahl T, Mörk NJ, Leigh I, Bowden PE, Vahlquist A.
    Acta Derm Venereol; 2001; 81(3):163-70. PubMed ID: 11558869
    [Abstract] [Full Text] [Related]

  • 2. Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis.
    Virtanen M, Smith SK, Gedde-Dahl T, Vahlquist A, Bowden PE.
    J Invest Dermatol; 2003 Nov; 121(5):1013-20. PubMed ID: 14708600
    [Abstract] [Full Text] [Related]

  • 3. Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.
    Arin MJ, Oji V, Emmert S, Hausser I, Traupe H, Krieg T, Grimberg G.
    Br J Dermatol; 2011 Feb; 164(2):442-7. PubMed ID: 21271994
    [Abstract] [Full Text] [Related]

  • 4. Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation.
    Morais P, Mota A, Baudrier T, Lopes JM, Cerqueira R, Tavares P, Azevedo F.
    Eur J Dermatol; 2009 Feb; 19(4):333-6. PubMed ID: 19443303
    [Abstract] [Full Text] [Related]

  • 5. Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.
    Smith FJD, Kreuser-Genis IM, Jury CS, Wilson NJ, Terron-Kwiatowski A, Zamiri M.
    Clin Exp Dermatol; 2019 Jul; 44(5):528-534. PubMed ID: 30288772
    [Abstract] [Full Text] [Related]

  • 6. Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads.
    Mo R, Lin M, Lee M, Yan W, Wang H, Lin Z.
    J Eur Acad Dermatol Venereol; 2022 Oct; 36(10):1857-1862. PubMed ID: 35490383
    [Abstract] [Full Text] [Related]

  • 7. Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1.
    Tal O, Bergman R, Alcalay J, Indelman M, Sprecher E.
    Clin Exp Dermatol; 2005 Jan; 30(1):64-7. PubMed ID: 15663507
    [Abstract] [Full Text] [Related]

  • 8. Keratin 4 upregulation by retinoic acid in vivo: a sensitive marker for retinoid bioactivity in human epidermis.
    Virtanen M, Törmä H, Vahlquist A.
    J Invest Dermatol; 2000 Mar; 114(3):487-93. PubMed ID: 10692107
    [Abstract] [Full Text] [Related]

  • 9. Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.
    Terron-Kwiatkowski A, Terrinoni A, Didona B, Melino G, Atherton DJ, Irvine AD, McLean WH.
    Br J Dermatol; 2004 Jun; 150(6):1096-103. PubMed ID: 15214894
    [Abstract] [Full Text] [Related]

  • 10. Human keratin diseases: hereditary fragility of specific epithelial tissues.
    Corden LD, McLean WH.
    Exp Dermatol; 1996 Dec; 5(6):297-307. PubMed ID: 9028791
    [Abstract] [Full Text] [Related]

  • 11. Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs.
    Credille KM, Barnhart KF, Minor JS, Dunstan RW.
    Br J Dermatol; 2005 Jul; 153(1):51-8. PubMed ID: 16029326
    [Abstract] [Full Text] [Related]

  • 12. Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis.
    Bonifas JM, Matsumura K, Chen MA, Berth-Jones J, Hutchison PE, Zloczower M, Fritsch PO, Epstein EH.
    J Invest Dermatol; 1994 Oct; 103(4):474-7. PubMed ID: 7523529
    [Abstract] [Full Text] [Related]

  • 13. Retinoids reduce formation of keratin aggregates in heat-stressed immortalized keratinocytes from an epidermolytic ichthyosis patient with a KRT10 mutation*.
    Li H, Törmä H.
    Acta Derm Venereol; 2013 Jan; 93(1):44-9. PubMed ID: 22504942
    [Abstract] [Full Text] [Related]

  • 14. Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families.
    Shamsher MK, Navsaria HA, Stevens HP, Ratnavel RC, Purkis PE, Kelsell DP, McLean WH, Cook LJ, Griffiths WA, Gschmeissner S.
    Hum Mol Genet; 1995 Oct; 4(10):1875-81. PubMed ID: 8595410
    [Abstract] [Full Text] [Related]

  • 15. The molecular genetics of keratin disorders.
    Smith F.
    Am J Clin Dermatol; 2003 Oct; 4(5):347-64. PubMed ID: 12688839
    [Abstract] [Full Text] [Related]

  • 16. A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis.
    Müller FB, Huber M, Kinaciyan T, Hausser I, Schaffrath C, Krieg T, Hohl D, Korge BP, Arin MJ.
    Hum Mol Genet; 2006 Apr 01; 15(7):1133-41. PubMed ID: 16505000
    [Abstract] [Full Text] [Related]

  • 17. A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma.
    Bergman R, Khamaysi Z, Sprecher E.
    Am J Dermatopathol; 2008 Apr 01; 30(2):101-5. PubMed ID: 18360110
    [Abstract] [Full Text] [Related]

  • 18. Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients.
    Sun XK, Ma LL, Xie YQ, Zhu XJ.
    J Dermatol Sci; 2002 Sep 01; 29(3):195-200. PubMed ID: 12234709
    [Abstract] [Full Text] [Related]

  • 19. Infantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma.
    Austin Smith W, Cope A, Fernandez M, Parekh P.
    Dermatol Online J; 2016 Apr 18; 22(4):. PubMed ID: 27617465
    [Abstract] [Full Text] [Related]

  • 20. First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses.
    Diociaiuti A, Castiglia D, Corbeddu M, Rotunno R, Rossi S, Pisaneschi E, Cesario C, Condorelli AG, Zambruno G, El Hachem M.
    Int J Mol Sci; 2020 Oct 18; 21(20):. PubMed ID: 33081034
    [Abstract] [Full Text] [Related]

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