These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

106 related articles for article (PubMed ID: 9457914)

  • 1. A deletion mutation in COL17A1 in five Austrian families with generalized atrophic benign epidermolysis bullosa represents propagation of an ancestral allele.
    Darling TN; Koh BB; Bale SJ; Compton JG; Bauer JW; Hintner H; Yancey KB
    J Invest Dermatol; 1998 Feb; 110(2):170-3. PubMed ID: 9457914
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Compound heterozygosity for a point mutation and a deletion located at splice acceptor sites in the LAMB3 gene leads to generalized atrophic benign epidermolysis bullosa.
    Takizawa Y; Hiraoka Y; Takahashi H; Ishiko A; Yasuraoka I; Hashimoto I; Aiso S; Nishikawa T; Shimizu H
    J Invest Dermatol; 2000 Aug; 115(2):312-6. PubMed ID: 10951252
    [TBL] [Abstract][Full Text] [Related]  

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

  • 4. A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel.
    Whittock NV; Sher C; Gold I; Libman V; Reish O
    Genet Med; 2003; 5(6):435-9. PubMed ID: 14614394
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa.
    Darling TN; Yee C; Koh B; McGrath JA; Bauer JW; Uitto J; Hintner H; Yancey KB
    J Invest Dermatol; 1998 Feb; 110(2):165-9. PubMed ID: 9457913
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa.
    Gatalica B; Pulkkinen L; Li K; Kuokkanen K; Ryynänen M; McGrath JA; Uitto J
    Am J Hum Genet; 1997 Feb; 60(2):352-65. PubMed ID: 9012408
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

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

  • 9. Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa.
    Scheffer H; Stulp RP; Verlind E; van der Meulen M; Bruckner-Tuderman L; Gedde-Dahl T; te Meerman GJ; Sonnenberg A; Buys CH; Jonkman MF
    Hum Genet; 1997 Aug; 100(2):230-5. PubMed ID: 9254855
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy.
    Bauer JW; Lanschuetzer C
    Clin Exp Dermatol; 2003 Jan; 28(1):53-60. PubMed ID: 12558632
    [TBL] [Abstract][Full Text] [Related]  

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

  • 12. Comprehensive analysis of gene expression profiles in keratinocytes from patients with generalized atrophic benign epidermolysis bullosa.
    Huber A; Yee C; Darling TN; Yancey KB
    Exp Dermatol; 2002 Feb; 11(1):75-81. PubMed ID: 11952829
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Generalized atrophic benign epidermolysis bullosa in 2 siblings complicated by multiple squamous cell carcinomas.
    Swensson O; Christophers E
    Arch Dermatol; 1998 Feb; 134(2):199-203. PubMed ID: 9487212
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.
    Takizawa Y; Shimizu H; Pulkkinen L; Hiraoka Y; McGrath JA; Suzumori K; Aiso S; Uitto J; Nishikawa T
    J Invest Dermatol; 1998 Feb; 110(2):174-8. PubMed ID: 9457915
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Generalized atrophic benign epidermolysis bullosa.
    Darling TN; Bauer JW; Hintner H; Yancey KB
    Adv Dermatol; 1997; 13():87-119; discussion 120. PubMed ID: 9551142
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations.
    Pasmooij AM; Nijenhuis M; Brander R; Jonkman MF
    J Invest Dermatol; 2012 May; 132(5):1374-83. PubMed ID: 22318390
    [TBL] [Abstract][Full Text] [Related]  

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

  • 19. 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]  

  • 20. 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
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.