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Journal Abstract Search

273 related items for PubMed ID: 7678607

  • 1. 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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  • 2. Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q.
    Compton JG, DiGiovanna JJ, Santucci SK, Kearns KS, Amos CI, Abangan DL, Korge BP, McBride OW, Steinert PM, Bale SJ.
    Nat Genet; 1992 Jul; 1(4):301-5. PubMed ID: 1284546
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  • 3. Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12.
    Bonifas JM, Bare JW, Chen MA, Lee MK, Slater CA, Goldsmith LA, Epstein EH.
    J Invest Dermatol; 1992 Nov; 99(5):524-7. PubMed ID: 1385543
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  • 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
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  • 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
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  • 6. Epidermolytic hyperkeratosis.
    Bale SJ, Compton JG, DiGiovanna JJ.
    Semin Dermatol; 1993 Sep; 12(3):202-9. PubMed ID: 7692917
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  • 9. A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma.
    Bergman R, Khamaysi Z, Sprecher E.
    Am J Dermatopathol; 2008 Apr; 30(2):101-5. PubMed ID: 18360110
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  • 10. A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis.
    Bolling MC, Bladergroen RS, van Steensel MA, Willemsen M, Jonkman MF, van Geel M.
    Br J Dermatol; 2010 Apr; 162(4):875-9. PubMed ID: 20500210
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  • 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
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  • 15. Epidermolytic hyperkeratosis: applied molecular genetics.
    DiGiovanna JJ, Bale SJ.
    J Invest Dermatol; 1994 Mar; 102(3):390-4. PubMed ID: 7509838
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  • 17. Bullous congenital ichthyosiform erythroderma of Brocq.
    Kucharekova M, Mosterd K, Winnepenninckx V, van Geel M, Sommer A, van Steensel MA.
    Int J Dermatol; 2007 Nov; 46 Suppl 3():36-8. PubMed ID: 17973888
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  • 18. 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; 51(2):182-5. PubMed ID: 22250628
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  • 19. 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; 111(6):1220-3. PubMed ID: 9856845
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  • 20. [Bullous congenital ichthyosiform erythroderma of Brocq; 2 patients with different phenotype and genotype].
    Lavrijsen AP, Bergman W, Steijlen PM.
    Ned Tijdschr Geneeskd; 2001 Aug 04; 145(31):1527-8. PubMed ID: 11569466
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