BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

219 related articles for article (PubMed ID: 9740253)

  • 1. 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]  

  • 2. 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]  

  • 3. 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
    [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. 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; 109(5):684-7. PubMed ID: 9347800
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

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

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

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa.
    Salas-Alanis JC; Mellerio JE; Amaya-Guerra M; Ashton GH; Eady RA; McGrath JA
    Br J Dermatol; 1998 May; 138(5):852-8. PubMed ID: 9666834
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A recurrent COL7A1 mutation, R2814X, in British patients with recessive dystrophic epidermolysis bullosa.
    Mohammedi R; Mellerio JE; Ashton GH; Eady RA; McGrath JA
    Clin Exp Dermatol; 1999 Jan; 24(1):37-9. PubMed ID: 10233647
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

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

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

  • 19. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A -96C-->T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa.
    Gardella R; Barlati S; Zoppi N; Tadini G; Colombi M
    Hum Mutat; 2000 Sep; 16(3):275. PubMed ID: 10980546
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.