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Journal Abstract Search

430 related items for PubMed ID: 20030639

  • 21. Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland.
    Hamada T, Kawano Y, Szczecinska W, Wozniak K, Yasumoto S, Kowalewski C, Hashimoto T.
    Arch Dermatol Res; 2005 Jun; 296(12):577-9. PubMed ID: 15827748
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  • 23. Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis.
    Pfendner EG, Sadowski SG, Uitto J.
    J Invest Dermatol; 2005 Aug; 125(2):239-43. PubMed ID: 16098032
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  • 26. Epidermolysis bullosa simplex in Israel: clinical and genetic features.
    Ciubotaru D, Bergman R, Baty D, Indelman M, Pfendner E, Petronius D, Moualem H, Kanaan M, Ben Amitai D, McLean WH, Uitto J, Sprecher E.
    Arch Dermatol; 2003 Apr; 139(4):498-505. PubMed ID: 12707098
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  • 28. Dyskeratosis as a histologic feature in epidermolysis bullosa simplex-Dowling Meara.
    Bergman R, Harel A, Sprecher E.
    J Am Acad Dermatol; 2007 Sep; 57(3):463-6. PubMed ID: 17707151
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  • 31. A novel autosomal partially dominant mutation designated G476D in the keratin 5 gene causing epidermolysis bullosa simplex Weber-Cockayne type: a family study with a genetic twist.
    Kowalewski C, Hamada T, Wozniak K, Kawano Y, Szczecinska W, Yasumoto S, Schwartz RA, Hashimoto T.
    Int J Mol Med; 2007 Jul; 20(1):75-8. PubMed ID: 17549391
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  • 33. Keratins and epidermolysis bullosa simplex.
    Khani P, Ghazi F, Zekri A, Nasri F, Behrangi E, Aghdam AM, Mirzaei H.
    J Cell Physiol; 2018 Jan; 234(1):289-297. PubMed ID: 30078200
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  • 35. Epidermolysis bullosa simplex.
    Sprecher E.
    Dermatol Clin; 2010 Jan; 28(1):23-32. PubMed ID: 19945613
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  • 36. Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex.
    Wertheim-Tysarowska K, Sota J, Kutkowska-Kaźmierczak A, Woźniak K, Bal J, Kowalewski C.
    Br J Dermatol; 2014 Feb; 170(2):468-9. PubMed ID: 24024749
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  • 37. Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function.
    Rugg EL, Morley SM, Smith FJ, Boxer M, Tidman MJ, Navsaria H, Leigh IM, Lane EB.
    Nat Genet; 1993 Nov; 5(3):294-300. PubMed ID: 7506097
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  • 40. Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex.
    Sørensen CB, Andresen BS, Jensen UB, Jensen TG, Jensen PK, Gregersen N, Bolund L.
    Exp Dermatol; 2003 Aug; 12(4):472-9. PubMed ID: 12930305
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