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Journal Abstract Search

208 related items for PubMed ID: 1385543

  • 1.
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  • 2. 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; 91(1):357-61. PubMed ID: 7678607
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  • 4. An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1.
    Kremer H, Lavrijsen AP, McLean WH, Lane EB, Melchers D, Ruiter DJ, Mariman EC, Steijlen PM.
    J Invest Dermatol; 1998 Dec; 111(6):1224-6. PubMed ID: 9856846
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  • 5. Genetic bases of epidermolysis bullosa simplex and epidermolytic hyperkeratosis.
    Fuchs E, Coulombe P, Cheng J, Chan YM, Hutton E, Syder A, Degenstein L, Yu QC, Letai A, Vassar R.
    J Invest Dermatol; 1994 Nov; 103(5 Suppl):25S-30S. PubMed ID: 7525738
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  • 7. The molecular genetics of keratin disorders.
    Smith F.
    Am J Clin Dermatol; 2003 Nov; 4(5):347-64. PubMed ID: 12688839
    [Abstract] [Full Text] [Related]

  • 8. Linkage of epidermolysis bullosa simplex to keratin gene loci.
    McKenna KE, Hughes AE, Bingham EA, Nevin NC.
    J Med Genet; 1992 Aug; 29(8):568-70. PubMed ID: 1381443
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  • 10. 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
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  • 12. Genetic skin disorders of keratin.
    Fuchs E.
    J Invest Dermatol; 1992 Dec; 99(6):671-4. PubMed ID: 1281858
    [No Abstract] [Full Text] [Related]

  • 13. 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
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  • 14. Mutations in the genes for epidermal keratins in epidermolysis bullosa and epidermolytic hyperkeratosis.
    Leigh IM, Lane EB.
    Arch Dermatol; 1993 Dec; 129(12):1571-7. PubMed ID: 7504434
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  • 15. 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
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  • 16. Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.
    Bonifas JM, Rothman AL, Epstein EH.
    Science; 1991 Nov 22; 254(5035):1202-5. PubMed ID: 1720261
    [Abstract] [Full Text] [Related]

  • 17. Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.
    Chan YM, Yu QC, LeBlanc-Straceski J, Christiano A, Pulkkinen L, Kucherlapati RS, Uitto J, Fuchs E.
    J Cell Sci; 1994 Apr 22; 107 ( Pt 4)():765-74. PubMed ID: 7520042
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  • 19. Epidermolytic hyperkeratosis.
    Kwak J, Maverakis E.
    Dermatol Online J; 2006 Sep 08; 12(5):6. PubMed ID: 16962021
    [Abstract] [Full Text] [Related]

  • 20. 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 08; 111(6):1220-3. PubMed ID: 9856845
    [Abstract] [Full Text] [Related]

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