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Journal Abstract Search

186 related items for PubMed ID: 8644729

  • 1. 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; 58(4):671-81. PubMed ID: 8644729
    [Abstract] [Full Text] [Related]

  • 2. Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
    Almaani N, Liu L, Dopping-Hepenstal PJ, Lai-Cheong JE, Wong A, Nanda A, Moss C, Martinéz AE, Mellerio JE, McGrath JA.
    Acta Derm Venereol; 2011 May; 91(3):262-6. PubMed ID: 21448560
    [Abstract] [Full Text] [Related]

  • 3. Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.
    Kon A, McGrath JA, Pulkkinen L, Nomura K, Nakamura T, Maekawa Y, Christiano AM, Hashimoto I, Uitto J.
    J Invest Dermatol; 1997 Feb; 108(2):224-8. PubMed ID: 9008239
    [Abstract] [Full Text] [Related]

  • 4. Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.
    Nordal EJ, Mecklenbeck S, Hausser I, Skranes J, Bruckner-Tuderman L, Gedde-Dahl T.
    Br J Dermatol; 2001 Jan; 144(1):151-7. PubMed ID: 11167698
    [Abstract] [Full Text] [Related]

  • 5. 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; 139(4):730-7. PubMed ID: 9892921
    [Abstract] [Full Text] [Related]

  • 6. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
    Dang N, Murrell DF.
    Exp Dermatol; 2008 Jul; 17(7):553-68. PubMed ID: 18558993
    [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.
    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]

  • 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. 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; 28(4):437-9. PubMed ID: 12823310
    [Abstract] [Full Text] [Related]

  • 10. Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants.
    Dang N, Klingberg S, Marr P, Murrell DF.
    J Dermatol Sci; 2007 Jun; 46(3):169-78. PubMed ID: 17425959
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.
    Winberg JO, Hammami-Hauasli N, Nilssen O, Anton-Lamprecht I, Naylor SL, Kerbacher K, Zimmermann M, Krajci P, Gedde-Dahl T, Bruckner-Tuderman L.
    Hum Mol Genet; 1997 Jul; 6(7):1125-35. PubMed ID: 9215684
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa.
    Mallipeddi R, Bleck O, Mellerio JE, Ashton GH, Eady RA, McGrath JA.
    Br J Dermatol; 2003 Oct 24; 149(4):810-8. PubMed ID: 14616374
    [Abstract] [Full Text] [Related]

  • 15. Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype.
    Christiano AM, Anton-Lamprecht I, Amano S, Ebschner U, Burgeson RE, Uitto J.
    Am J Hum Genet; 1996 Apr 24; 58(4):682-93. PubMed ID: 8644730
    [Abstract] [Full Text] [Related]

  • 16. 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 24; 109(5):684-7. PubMed ID: 9347800
    [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. Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients.
    Ryoo YW, Kim BC, Lee KS.
    J Dermatol Sci; 2001 Jun 24; 26(2):125-32. PubMed ID: 11378329
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Diagnostic dilemma of "sporadic" cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?
    Hashimoto I, Kon A, Tamai K, Uitto J.
    Exp Dermatol; 1999 Apr 24; 8(2):140-2. PubMed ID: 10232406
    [Abstract] [Full Text] [Related]

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