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396 related items for PubMed ID: 8592061

  • 1. Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity.
    Shimizu H, McGrath JA, Christiano AM, Nishikawa T, Uitto J.
    J Invest Dermatol; 1996 Jan; 106(1):119-24. PubMed ID: 8592061
    [Abstract] [Full Text] [Related]

  • 2. Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa.
    Tamai K, Ishida-Yamamoto A, Matsuo S, Iizuka H, Hashimoto I, Christiano AM, Uitto J, McGrath JA.
    Lab Invest; 1997 Feb; 76(2):209-17. PubMed ID: 9042157
    [Abstract] [Full Text] [Related]

  • 3. 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; 107(2):171-7. PubMed ID: 8757758
    [Abstract] [Full Text] [Related]

  • 4. 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; 26(2):125-32. PubMed ID: 11378329
    [Abstract] [Full Text] [Related]

  • 5. Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression.
    McGrath JA, Ishida-Yamamoto A, O'Grady A, Leigh IM, Eady RA.
    J Invest Dermatol; 1993 Apr; 100(4):366-72. PubMed ID: 8454899
    [Abstract] [Full Text] [Related]

  • 6. Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations.
    McGrath JA, Ashton GH, Mellerio JE, Salas-Alanis JC, Swensson O, McMillan JR, Eady RA.
    J Invest Dermatol; 1999 Sep; 113(3):314-21. PubMed ID: 10469327
    [Abstract] [Full Text] [Related]

  • 7. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
    Varki R, Sadowski S, Uitto J, Pfendner E.
    J Med Genet; 2007 Mar; 44(3):181-92. PubMed ID: 16971478
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa.
    Mellerio JE, Salas-Alanis JC, Amaya-Guerra M, Tamez E, Ashton GH, Mohammedi R, Eady RA, McGrath JA.
    Exp Dermatol; 1999 Feb; 8(1):22-9. PubMed ID: 10206718
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.
    van den Akker PC, van Essen AJ, Kraak MM, Meijer R, Nijenhuis M, Meijer G, Hofstra RM, Pas HH, Scheffer H, Jonkman MF.
    J Dermatol Sci; 2009 Oct; 56(1):9-18. PubMed ID: 19665875
    [Abstract] [Full Text] [Related]

  • 12. Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.
    Hovnanian A, Rochat A, Bodemer C, Petit E, Rivers CA, Prost C, Fraitag S, Christiano AM, Uitto J, Lathrop M, Barrandon Y, de Prost Y.
    Am J Hum Genet; 1997 Sep; 61(3):599-610. PubMed ID: 9326325
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Mild recessive dystrophic epidermolysis bullosa associated with two compound heterozygous COL7A1 mutations.
    von Bartenwerffer W, Has C, Arin MJ, Tantcheva-Poór I, Kreuter A, Kremer K, Arshah T, Hoffmann M, Eming SA, Kohlhase J, Krieg T, Bruckner-Tuderman L, Hartmann K.
    Eur J Dermatol; 2011 Nov; 21(2):170-2. PubMed ID: 21382783
    [Abstract] [Full Text] [Related]

  • 15. Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family.
    Ouragini H, Cherif F, Kassar S, Floriddia G, Pascucci M, Daoud W, Osman-Dhahri AB, Boubaker S, Castiglia D, Abdelhak S.
    J Dermatol Sci; 2009 May; 54(2):114-20. PubMed ID: 19261445
    [Abstract] [Full Text] [Related]

  • 16. Does the position of the premature termination codon in COL7A1 correlate with the clinical severity in recessive dystrophic epidermolysis bullosa?
    Ishiko A, Masunaga T, Ota T, Nishikawa T.
    Exp Dermatol; 2004 Apr; 13(4):229-33. PubMed ID: 15086338
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. A Case Report of an Infant with Autosomal Recessive Dystrophic Epidermolysis Bullosa: COL7A1 Gene Mutations at C2005T and G7922A.
    Liu J, Wang L.
    Acta Dermatovenerol Croat; 2021 Dec; 29(3):164-166. PubMed ID: 34990346
    [Abstract] [Full Text] [Related]

  • 19. [Recessive epidermolysis bullosa due to composite heterozygote mutations in the COL7A1 gene].
    Abdou A, Daoui L, Charlesworth A, Chiaverini C, Algros MP, Puzenat E, Chantegret C, Vabres P, Lacour JP, Aubin F.
    Ann Dermatol Venereol; 2015 May; 142(5):346-9. PubMed ID: 25683012
    [Abstract] [Full Text] [Related]

  • 20. "Sporadic" dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?
    Vaccaro M, Moretti G, Guarneri F, Cannavò S, Magaudda L.
    Eur J Dermatol; 2000 Aug; 10(6):436-8. PubMed ID: 10980463
    [Abstract] [Full Text] [Related]

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