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Journal Abstract Search

117 related items for PubMed ID: 8618021

  • 1. Genetic basis of Bart's syndrome: a glycine substitution mutation in type VII collagen gene.
    Christiano AM, Bart BJ, Epstein EH, Uitto J.
    J Invest Dermatol; 1996 Apr; 106(4):778-80. PubMed ID: 8618021
    [Abstract] [Full Text] [Related]

  • 2. Genetic basis of Bart's syndrome: a glycine substitution mutation in the type VII collagen gene.
    Christiano AM, Bart BJ, Epstein EH, Uitto J.
    J Invest Dermatol; 1996 Jun; 106(6):1340-2. PubMed ID: 8752681
    [Abstract] [Full Text] [Related]

  • 3. Bart's syndrome. Ultrastructure and genetic linkage.
    Zelickson B, Matsumura K, Kist D, Epstein EH, Bart BJ.
    Arch Dermatol; 1995 Jun; 131(6):663-8. PubMed ID: 7778916
    [Abstract] [Full Text] [Related]

  • 4. A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa.
    Christiano AM, Morricone A, Paradisi M, Angelo C, Mazzanti C, Cavalieri R, Uitto J.
    J Invest Dermatol; 1995 Mar; 104(3):438-40. PubMed ID: 7861014
    [Abstract] [Full Text] [Related]

  • 5. A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa.
    Lee JY, Li C, Chao SC, Pulkkinen L, Uitto J.
    Arch Dermatol Res; 2000 Apr; 292(4):159-63. PubMed ID: 10836608
    [Abstract] [Full Text] [Related]

  • 6. Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.
    Christiano AM, Lee JY, Chen WJ, LaForgia S, Uitto J.
    Hum Mol Genet; 1995 Sep; 4(9):1579-83. PubMed ID: 8541842
    [Abstract] [Full Text] [Related]

  • 7. A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa.
    Lee JY, Pulkkinen L, Liu HS, Chen YF, Uitto J.
    J Invest Dermatol; 1997 Jun; 108(6):947-9. PubMed ID: 9182828
    [Abstract] [Full Text] [Related]

  • 8. Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.
    Terracina M, Posteraro P, Schubert M, Sonego G, Atzori F, Zambruno G, Bruckner-Tuderman L, Castiglia D.
    J Invest Dermatol; 1998 Nov; 111(5):744-50. PubMed ID: 9804332
    [Abstract] [Full Text] [Related]

  • 9. Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic.
    Kon A, Nomura K, Pulkkinen L, Sawamura D, Hashimoto I, Uitto J.
    J Invest Dermatol; 1997 Nov; 109(5):684-7. PubMed ID: 9347800
    [Abstract] [Full Text] [Related]

  • 10. Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.
    Hammami-Hauasli N, Schumann H, Raghunath M, Kilgus O, Lüthi U, Luger T, Bruckner-Tuderman L.
    J Biol Chem; 1998 Jul 24; 273(30):19228-34. PubMed ID: 9668111
    [Abstract] [Full Text] [Related]

  • 11. Identification of the glycine-to-arginine substitution G2043R in type VII collagen in a family with dominant dystrophic epidermolysis bullosa from Hungary.
    Cserhalmi-Friedman PB, Karpati S, Horvath A, Christiano AM.
    Exp Dermatol; 1997 Dec 24; 6(6):303-7. PubMed ID: 9412818
    [Abstract] [Full Text] [Related]

  • 12. A new glycine substitution mutation in the COL7A1 gene in a Chinese family with dominant dystrophic epidermolysis bullosa.
    Zhang XJ, Song YX, Zhang XQ, Yang S, Li M, Li CR, Yang CJ, Yang J.
    Clin Exp Dermatol; 2003 Jul 24; 28(4):437-9. PubMed ID: 12823310
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  • 16. Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.
    Christiano AM, McGrath JA, Tan KC, Uitto J.
    Am J Hum Genet; 1996 Apr 24; 58(4):671-81. PubMed ID: 8644729
    [Abstract] [Full Text] [Related]

  • 17. Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.
    Dunnill MG, McGrath JA, Richards AJ, Christiano AM, Uitto J, Pope FM, Eady RA.
    J Invest Dermatol; 1996 Aug 24; 107(2):171-7. PubMed ID: 8757758
    [Abstract] [Full Text] [Related]

  • 18. Bart's Syndrome with Novel Frameshift Mutations in the COL7A1 Gene.
    Han YM, Lee N, Byun SY, Cheon SJ, Ko HC.
    Fetal Pediatr Pathol; 2019 Feb 24; 38(1):72-79. PubMed ID: 30523708
    [Abstract] [Full Text] [Related]

  • 19. A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa.
    Mellerio JE, Salas-Alanis JC, Talamantes ML, Horn H, Tidman MJ, Ashton GH, Eady RA, McGrath JA.
    Br J Dermatol; 1998 Oct 24; 139(4):730-7. PubMed ID: 9892921
    [Abstract] [Full Text] [Related]

  • 20. Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa.
    Cserhalmi-Friedman PB, Grossman J, Karpati S, Ahmad W, Horvath A, Christiano AM.
    Exp Dermatol; 1999 Apr 24; 8(2):143-5. PubMed ID: 10232407
    [Abstract] [Full Text] [Related]

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