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Journal Abstract Search

177 related items for PubMed ID: 10597140

  • 1. Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene.
    Michael EJ, Schneiderman P, Grossman ME, Christiano AM.
    Exp Dermatol; 1999 Dec; 8(6):501-3. PubMed ID: 10597140
    [Abstract] [Full Text] [Related]

  • 2. Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene.
    Cserhalmi-Friedman PB, Squeo R, Gordon D, Garzon M, Schneiderman P, Grossman ME, Christiano AM.
    Clin Exp Dermatol; 2000 May; 25(3):241-3. PubMed ID: 10844506
    [Abstract] [Full Text] [Related]

  • 3. Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1.
    Sybert VP, Francis JS, Corden LD, Smith LT, Weaver M, Stephens K, McLean WH.
    Am J Hum Genet; 1999 Mar; 64(3):732-8. PubMed ID: 10053007
    [Abstract] [Full Text] [Related]

  • 4. Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis.
    Arin MJ, Longley MA, Epstein EH, Rothnagel JA, Roop DR.
    Exp Dermatol; 2000 Feb; 9(1):16-9. PubMed ID: 10688370
    [Abstract] [Full Text] [Related]

  • 5. A keratin K10 gene mutation in a Japanese patient with epidermolytic hyperkeratosis.
    Nomura K, Meng X, Umeki K, Tamai K, Sawamura D, Hashimoto I, Kikuchi T.
    Jpn J Hum Genet; 1997 Mar; 42(1):217-23. PubMed ID: 9184002
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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]

  • 8. Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens.
    Rothnagel JA, Traupe H, Wojcik S, Huber M, Hohl D, Pittelkow MR, Saeki H, Ishibashi Y, Roop DR.
    Nat Genet; 1994 Aug 01; 7(4):485-90. PubMed ID: 7524919
    [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 01; 150(6):1096-103. PubMed ID: 15214894
    [Abstract] [Full Text] [Related]

  • 10. A recurrent missense mutation of keratin 1 gene in a Chinese family with epidermolytic hyperkeratosis (severe palmoplantar hyperkeratosis, type 1).
    Zeng YP, Chai WX, Fang K, Sun QN, Zuo YG.
    Int J Dermatol; 2012 Feb 01; 51(2):182-5. PubMed ID: 22250628
    [Abstract] [Full Text] [Related]

  • 11. A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1.
    Uezato H, Yamamoto Y, Kuwae C, Nonaka K, Oshiro M, Kariya K, Nonaka S.
    J Dermatol; 2005 Oct 01; 32(10):801-8. PubMed ID: 16361731
    [Abstract] [Full Text] [Related]

  • 12. A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis.
    Rothnagel JA, Fisher MP, Axtell SM, Pittelkow MR, Anton-Lamprecht I, Huber M, Hohl D, Roop DR.
    Hum Mol Genet; 1993 Dec 01; 2(12):2147-50. PubMed ID: 7509230
    [Abstract] [Full Text] [Related]

  • 13. A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma.
    Suga Y, Duncan KO, Heald PW, Roop DR.
    J Invest Dermatol; 1998 Dec 01; 111(6):1220-3. PubMed ID: 9856845
    [Abstract] [Full Text] [Related]

  • 14. An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis.
    Arin MJ, Longley MA, Küster W, Huber M, Hohl D, Rothnagel JA, Roop DR.
    Exp Dermatol; 1999 Apr 01; 8(2):124-7. PubMed ID: 10232403
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 30(1):64-7. PubMed ID: 15663507
    [Abstract] [Full Text] [Related]

  • 16. A novel substitution in keratin 10 in epidermolytic hyperkeratosis.
    Arin MJ, Longley MA, Anton-Lamprecht I, Kurze G, Huber M, Hohl D, Rothnagel JA, Roop DR.
    J Invest Dermatol; 1999 Apr 01; 112(4):506-8. PubMed ID: 10201536
    [Abstract] [Full Text] [Related]

  • 17. Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster.
    Pulkkinen L, Christiano AM, Knowlton RG, Uitto J.
    J Clin Invest; 1993 Jan 01; 91(1):357-61. PubMed ID: 7678607
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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 01; 121(5):1013-20. PubMed ID: 14708600
    [Abstract] [Full Text] [Related]

  • 20. A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.
    Joh GY, Traupe H, Metze D, Nashan D, Huber M, Hohl D, Longley MA, Rothnagel JA, Roop DR.
    J Invest Dermatol; 1997 Mar 01; 108(3):357-61. PubMed ID: 9036939
    [Abstract] [Full Text] [Related]

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