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Journal Abstract Search

235 related items for PubMed ID: 12207583

  • 1. Different phenotypes in recessive dystrophic epidermolysis bullosa patients sharing the same mutation in compound heterozygosity with two novel mutations in the type VII collagen gene.
    Gardella R, Zoppi N, Zambruno G, Barlati S, Colombi M.
    Br J Dermatol; 2002 Sep; 147(3):450-7. PubMed ID: 12207583
    [Abstract] [Full Text] [Related]

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

  • 3. Hallopeau-Siemens dystrophic epidermolysis bullosa due to homozygous 5818delC mutation in the COL7A gene.
    Koshida S, Tsukamura A, Yanagi T, Nakahara S, Takeuchi Y, Kato T, Tanaka T, Nakano H, Shimizu H.
    Pediatr Int; 2013 Apr; 55(2):234-7. PubMed ID: 23679163
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.
    Massé M, Cserhalmi-Friedman PB, Falanga V, Celebi JT, Martinez-Mir A, Christiano AM.
    Clin Exp Dermatol; 2005 May; 30(3):289-93. PubMed ID: 15807692
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.
    Gardella R, Belletti L, Zoppi N, Marini D, Barlati S, Colombi M.
    Am J Hum Genet; 1996 Aug; 59(2):292-300. PubMed ID: 8755915
    [Abstract] [Full Text] [Related]

  • 9. Five Novel COL7A1 Gene Mutations in Three Chinese Patients with Recessive Dystrophic Epidermolysis Bullosa.
    Yan Y, Meng Z, Hao S, Wang F, Jin X, Sun D, Gao H, Ma X.
    Ann Clin Lab Sci; 2018 Jan; 48(1):100-105. PubMed ID: 29531004
    [Abstract] [Full Text] [Related]

  • 10. Genotype-phenotype correlations in six Japanese patients with recessive dystrophic epidermolysis bullosa with the recurrent p.Glu2857X mutation.
    Saito M, Masunaga T, Teraki Y, Takamori K, Ishiko A.
    J Dermatol Sci; 2008 Oct; 52(1):13-20. PubMed ID: 18440202
    [Abstract] [Full Text] [Related]

  • 11. Type VII collagen gene mutations (c.8569G>T and c.4879G>A) result in the moderately severe phenotype of recessive dystrophic epidermolysis bullosa in a Korean patient.
    Cho JW, Nakano H, Lee KS.
    J Korean Med Sci; 2009 Apr; 24(2):256-61. PubMed ID: 19399267
    [Abstract] [Full Text] [Related]

  • 12. A novel COL7A1 mutation in a Korean patient with Hallopeau-Siemens recessive dystrophic epidermolysis bullosa.
    Park J, Chae H, Kim M, Kim Y, Park IY, Shin JC, Park YM.
    Genet Mol Res; 2013 Mar 11; 12(1):678-82. PubMed ID: 23546949
    [Abstract] [Full Text] [Related]

  • 13. Recessive dystrophic epidermolysis bullosa: case of non-Hallopeau-Siemens variant with premature termination codons in both alleles.
    Yonei N, Ohtani T, Furukawa F.
    J Dermatol; 2006 Nov 11; 33(11):802-5. PubMed ID: 17073998
    [Abstract] [Full Text] [Related]

  • 14. 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 11; 107(2):171-7. PubMed ID: 8757758
    [Abstract] [Full Text] [Related]

  • 15. Splice site mutation in COL7A1 resulting in aberrant in-frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial.
    Masunaga T, Kubo A, Ishiko A.
    J Dermatol; 2018 Jun 11; 45(6):742-745. PubMed ID: 29500833
    [Abstract] [Full Text] [Related]

  • 16. 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 11; 16(3):275. PubMed ID: 10980546
    [Abstract] [Full Text] [Related]

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  • 18. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
    Dang N, Murrell DF.
    Exp Dermatol; 2008 Jul 11; 17(7):553-68. PubMed ID: 18558993
    [Abstract] [Full Text] [Related]

  • 19. Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study.
    Chiaverini C, Charlesworth A, Fernandez A, Barbarot S, Bessis D, Bodemer C, Bursztejn AC, Cobo AM, Del Rio M, D'Incan M, Labrèze C, Langlet C, Mazereeuw J, Miquel J, Vabres P, Meneguzzi G, Lacour JP.
    Br J Dermatol; 2014 Apr 11; 170(4):901-6. PubMed ID: 24252097
    [Abstract] [Full Text] [Related]

  • 20. Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa.
    Atanasova VS, Jiang Q, Prisco M, Gruber C, Piñón Hofbauer J, Chen M, Has C, Bruckner-Tuderman L, McGrath JA, Uitto J, South AP.
    J Invest Dermatol; 2017 Sep 11; 137(9):1842-1849. PubMed ID: 28549954
    [Abstract] [Full Text] [Related]

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