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Journal Abstract Search

419 related items for PubMed ID: 7550320

  • 1. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.
    McGrath JA, Gatalica B, Christiano AM, Li K, Owaribe K, McMillan JR, Eady RA, Uitto J.
    Nat Genet; 1995 Sep; 11(1):83-6. PubMed ID: 7550320
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  • 2. Generalized atrophic benign epidermolysis bullosa.
    Darling TN, Bauer JW, Hintner H, Yancey KB.
    Adv Dermatol; 1997 Sep; 13():87-119; discussion 120. PubMed ID: 9551142
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  • 3. Autosomal dominant junctional epidermolysis bullosa.
    Almaani N, Liu L, Dopping-Hepenstal PJ, Lovell PA, Lai-Cheong JE, Graham RM, Mellerio JE, McGrath JA.
    Br J Dermatol; 2009 May; 160(5):1094-7. PubMed ID: 19120338
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  • 4. Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition.
    McGrath JA, Gatalica B, Li K, Dunnill MG, McMillan JR, Christiano AM, Eady RA, Uitto J.
    Am J Pathol; 1996 Jun; 148(6):1787-96. PubMed ID: 8669466
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  • 5. Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.
    Kiritsi D, Kern JS, Schumann H, Kohlhase J, Has C, Bruckner-Tuderman L.
    J Med Genet; 2011 Jul; 48(7):450-7. PubMed ID: 21357940
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  • 10. Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa.
    Darling TN, McGrath JA, Yee C, Gatalica B, Hametner R, Bauer JW, Pohla-Gubo G, Christiano AM, Uitto J, Hintner H, Yancey KB.
    J Invest Dermatol; 1997 Apr; 108(4):463-8. PubMed ID: 9077475
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  • 12. Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa.
    Pulkkinen L, Christiano AM, Airenne T, Haakana H, Tryggvason K, Uitto J.
    Nat Genet; 1994 Mar; 6(3):293-7. PubMed ID: 8012393
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  • 13. Hemidesmosome assembly assessed by expression of a wild-type integrin beta 4 cDNA in junctional epidermolysis bullosa keratinocytes.
    Gagnoux-Palacios L, Gache Y, Ortonne JP, Meneguzzi G.
    Lab Invest; 1997 Nov; 77(5):459-68. PubMed ID: 9389789
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  • 14. Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa.
    Schumann H, Hammami-Hauasli N, Pulkkinen L, Mauviel A, Küster W, Lüthi U, Owaribe K, Uitto J, Bruckner-Tuderman L.
    Am J Hum Genet; 1997 Jun; 60(6):1344-53. PubMed ID: 9199555
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  • 15. Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa.
    Floeth M, Fiedorowicz J, Schäcke H, Hammami-Hausli N, Owaribe K, Trüeb RM, Bruckner-Tuderman L.
    J Invest Dermatol; 1998 Sep; 111(3):528-33. PubMed ID: 9740252
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  • 16. Analysis of the COL17A1 in non-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta.
    Nakamura H, Sawamura D, Goto M, Nakamura H, Kida M, Ariga T, Sakiyama Y, Tomizawa K, Mitsui H, Tamaki K, Shimizu H.
    Int J Mol Med; 2006 Aug; 18(2):333-7. PubMed ID: 16820943
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  • 17. LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: consequences at the mRNA and protein levels.
    Pulkkinen L, Jonkman MF, McGrath JA, Kuijpers A, Paller AS, Uitto J.
    Lab Invest; 1998 Jul; 78(7):859-67. PubMed ID: 9690563
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  • 18. Corrective gene transfer of keratinocytes from patients with junctional epidermolysis bullosa restores assembly of hemidesmosomes in reconstructed epithelia.
    Vailly J, Gagnoux-Palacios L, Dell'Ambra E, Roméro C, Pinola M, Zambruno G, De Luca M, Ortonne JP, Meneguzzi G.
    Gene Ther; 1998 Oct; 5(10):1322-32. PubMed ID: 9930337
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  • 19. Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands.
    Yuen WY, Lemmink HH, van Dijk-Bos KK, Sinke RJ, Jonkman MF.
    Br J Dermatol; 2011 Dec; 165(6):1314-22. PubMed ID: 21801158
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  • 20. Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands.
    Pasmooij AM, Pas HH, Jansen GH, Lemmink HH, Jonkman MF.
    Br J Dermatol; 2007 May; 156(5):861-70. PubMed ID: 17263807
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