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Journal Abstract Search

891 related items for PubMed ID: 18374850

  • 21. A glycine substitution in the COL7A1 gene causes mild RDEB in a Pakistani family.
    Kraemer L, Wajid M, Christiano AM.
    Eur J Dermatol; 2006; 16(6):615-9. PubMed ID: 17229600
    [Abstract] [Full Text] [Related]

  • 22. 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]

  • 23. 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]

  • 24. Gene therapy for recessive dystrophic epidermolysis bullosa.
    Titeux M, Pendaries V, Hovnanian A.
    Dermatol Clin; 2010 Apr; 28(2):361-6, xii. PubMed ID: 20447504
    [Abstract] [Full Text] [Related]

  • 25. Natural gene therapy in dystrophic epidermolysis bullosa.
    van den Akker PC, Nijenhuis M, Meijer G, Hofstra RM, Jonkman MF, Pasmooij AM.
    Arch Dermatol; 2012 Feb; 148(2):213-6. PubMed ID: 22004882
    [Abstract] [Full Text] [Related]

  • 26. A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa.
    Shi BJ, Feng J.
    Clin Exp Dermatol; 2009 Dec; 34(8):e975-8. PubMed ID: 19486043
    [Abstract] [Full Text] [Related]

  • 27. 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; 149(4):810-8. PubMed ID: 14616374
    [Abstract] [Full Text] [Related]

  • 28. High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa.
    Csikós M, Szocs HI, Lászik A, Mecklenbeck S, Horváth A, Kárpáti S, Bruckner-Tuderman L.
    Br J Dermatol; 2005 May; 152(5):879-86. PubMed ID: 15888141
    [Abstract] [Full Text] [Related]

  • 29. Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: analysis of transcript levels in dermal fibroblasts.
    Gardella R, Zoppi N, Ferraboli S, Marini D, Tadini G, Barlati S, Colombi M.
    Hum Mutat; 1999 May; 13(6):439-52. PubMed ID: 10408773
    [Abstract] [Full Text] [Related]

  • 30. Dystrophic forms of epidermolysis bullosa.
    Uitto J, Christiano AM.
    Semin Dermatol; 1993 Sep; 12(3):191-201. PubMed ID: 8217558
    [Abstract] [Full Text] [Related]

  • 31. Autosomal dominant bullous dermolysis of the newborn associated with a heterozygous missense mutation p.G1673R in type VII collagen.
    Frew J, Lim SW, Klausseger A, Chow CW, Tran K, Su J, Orchard D, Varigos G, Sawamura D, Nishie W, Shimizu H, Murrell DF.
    Australas J Dermatol; 2011 Nov; 52(4):e1-4. PubMed ID: 22070715
    [Abstract] [Full Text] [Related]

  • 32. Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization.
    Drera B, Castiglia D, Zoppi N, Gardella R, Tadini G, Floriddia G, De Luca N, Pedicelli C, Barlati S, Zambruno G, Colombi M.
    Clin Genet; 2006 Oct; 70(4):339-47. PubMed ID: 16965329
    [Abstract] [Full Text] [Related]

  • 33. Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).
    Järvikallio A, Pulkkinen L, Uitto J.
    Hum Mutat; 1997 Oct; 10(5):338-47. PubMed ID: 9375848
    [Abstract] [Full Text] [Related]

  • 34. A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa.
    Chuang GS, Martinez-Mir A, Yu HS, Sung FY, Chuang RY, Cserhalmi-Friedman PB, Christiano AM.
    Clin Exp Dermatol; 2004 May; 29(3):304-7. PubMed ID: 15115517
    [Abstract] [Full Text] [Related]

  • 35. Rat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effect.
    Nyström A, Buttgereit J, Bader M, Shmidt T, Ozcelik C, Hausser I, Bruckner-Tuderman L, Kern JS.
    PLoS One; 2013 May; 8(5):e64243. PubMed ID: 23717576
    [Abstract] [Full Text] [Related]

  • 36. 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]

  • 37. De Novo COL7A1 mutation in a patient with trisomy 21: coexistence of dystrophic epidermolysis bullosa and Down syndrome.
    Catalán JA, Rodríguez FA, Yubero MJ, Palisson F, Gana MJ, Krämer SM, Repetto GM.
    Int J Dermatol; 2012 Sep; 51(9):1078-81. PubMed ID: 22909362
    [Abstract] [Full Text] [Related]

  • 38. A novel indel COL7A1 mutation 8068del17insGA causes dominant dystrophic epidermolysis bullosa.
    Sawamura D, Nizeki H, Miyagawa S, Shinkuma S, Shimizu H.
    Br J Dermatol; 2006 May; 154(5):995-7. PubMed ID: 16634910
    [No Abstract] [Full Text] [Related]

  • 39. 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]

  • 40. A Japanese case of de novo dominant dystrophic epidermolysis bullosa.
    Matsuba S, Suga Y, Mayuzumi N, Ikeda S, Ogawa H.
    Clin Exp Dermatol; 2002 Jan; 27(1):56-8. PubMed ID: 11952672
    [Abstract] [Full Text] [Related]

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