BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

236 related articles for article (PubMed ID: 11378329)

  • 1. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa.
    Christiano AM; Hoffman GG; Zhang X; Xu Y; Tamai Y; Greenspan DS; Uitto J
    Hum Mutat; 1997; 10(5):408-14. PubMed ID: 9375858
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa.
    Christiano AM; Anhalt G; Gibbons S; Bauer EA; Uitto J
    Genomics; 1994 May; 21(1):160-8. PubMed ID: 8088783
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.
    Christiano AM; Suga Y; Greenspan DS; Ogawa H; Uitto J
    J Clin Invest; 1995 Mar; 95(3):1328-34. PubMed ID: 7883979
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.
    Kon A; Pulkkinen L; Ishida-Yamamoto A; Hashimoto I; Uitto J
    J Invest Dermatol; 1998 Sep; 111(3):534-7. PubMed ID: 9740253
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1).
    Christiano AM; LaForgia S; Paller AS; McGuire J; Shimizu H; Uitto J
    Mol Med; 1996 Jan; 2(1):59-76. PubMed ID: 8900535
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa.
    Hovnanian A; Hilal L; Blanchet-Bardon C; de Prost Y; Christiano AM; Uitto J; Goossens M
    Am J Hum Genet; 1994 Aug; 55(2):289-96. PubMed ID: 8037207
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 13(6):439-52. PubMed ID: 10408773
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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
    [TBL] [Abstract][Full Text] [Related]  

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

  • 20. Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa.
    Mellerio JE; Dunnill MG; Allison W; Ashton GH; Christiano AM; Uitto J; Eady RA; McGrath JA
    J Invest Dermatol; 1997 Aug; 109(2):246-9. PubMed ID: 9242516
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.