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Journal Abstract Search

262 related items for PubMed ID: 28427821

  • 21. Compound heterozygous mutations p.Q1530X and 6103delG in COL7A1 causing recessive dystrophic epidermolysis bullosa in a Pakistani family.
    Shaiq PA, Klausegger A, Bauer JW, Azam M, Raja GK, Qamar R.
    J Dermatol; 2012 May; 39(5):472-4. PubMed ID: 21967228
    [No Abstract] [Full Text] [Related]

  • 22. Glycine substitution mutations by different amino acids at the same codon in COL7A1 cause different modes of dystrophic epidermolysis bullosa inheritance.
    Sawamura D, Mochitomi Y, Kanzaki T, Nakamura H, Shimizu H.
    Br J Dermatol; 2006 Oct; 155(4):834-7. PubMed ID: 16965438
    [No Abstract] [Full Text] [Related]

  • 23. Case report. Novel and recurrent COL7A1 mutations in Chinese patients with dystrophic epidermolysis bullosa pruriginosa.
    Zhu KJ, Zhu CY, Zhou Y, Fan YM.
    Genet Mol Res; 2014 Sep 12; 13(3):7587-92. PubMed ID: 25222259
    [Abstract] [Full Text] [Related]

  • 24. Localised Dominant Dystrophic Epidermolysis Bullosa with a Novel de Novo Mutation in COL7A1 Diagnosed by Next-generation Sequencing.
    Nagai M, Nagai H, Tominaga C, Sakaguchi Y, Jitsukawa O, Ohgo N, Nishigori C, Yamanishi K.
    Acta Derm Venereol; 2015 May 12; 95(5):629-31. PubMed ID: 25425313
    [No Abstract] [Full Text] [Related]

  • 25. Case report of two siblings with a novel homozygous mutation in COL7A1 leads to recessive dystrophic epidermolysis bullosa: which type?
    Gumus E.
    Clin Dysmorphol; 2018 Oct 12; 27(4):138-141. PubMed ID: 29846190
    [No Abstract] [Full Text] [Related]

  • 26. Two cases of recessive dystrophic epidermolysis bullosa diagnosed as severe generalized.
    Ohashi M, Shu E, Nagai M, Murase K, Nakano H, Tamai K, Sawamura D, Hiroka T, Seishima M, Kitajima Y, Aoyama Y.
    J Dermatol; 2011 Sep 12; 38(9):893-9. PubMed ID: 21658117
    [Abstract] [Full Text] [Related]

  • 27. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
    Dang N, Murrell DF.
    Exp Dermatol; 2008 Jul 12; 17(7):553-68. PubMed ID: 18558993
    [Abstract] [Full Text] [Related]

  • 28. Revertant mosaicism in recessive dystrophic epidermolysis bullosa.
    Almaani N, Nagy N, Liu L, Dopping-Hepenstal PJ, Lai-Cheong JE, Clements SE, Techanukul T, Tanaka A, Mellerio JE, McGrath JA.
    J Invest Dermatol; 2010 Jul 12; 130(7):1937-40. PubMed ID: 20357813
    [No Abstract] [Full Text] [Related]

  • 29. The clinical phenotype and a novel COL7A1 mutation in a Chinese family with dystrophic epidermolysis bullosa pruriginosa.
    Mu YZ, Du ZC, Zhang ZZ, Yang H, Chen X, Wang YB, Liu LL.
    J Eur Acad Dermatol Venereol; 2018 Oct 12; 32(10):e372-e373. PubMed ID: 29512192
    [No Abstract] [Full Text] [Related]

  • 30. 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 12; 91(3):262-6. PubMed ID: 21448560
    [Abstract] [Full Text] [Related]

  • 31. 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 12; 154(5):995-7. PubMed ID: 16634910
    [No Abstract] [Full Text] [Related]

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  • 34. [Neonatal hereditary dystrophic epidermolysis bullosa: a genetically diagnosed case report].
    Jiang Y, Hou XL, Li X, Lin ZS, Cui C.
    Beijing Da Xue Xue Bao Yi Xue Ban; 2013 Apr 18; 45(2):202-6. PubMed ID: 23591337
    [Abstract] [Full Text] [Related]

  • 35. A novel homozygous splice site mutation in COL7A1 in a Chinese patient with severe recessive dystrophic epidermolysis bullosa and squamous cell carcinoma.
    Huang L, Wong YP, Burd A.
    Int J Dermatol; 2011 Jan 18; 50(1):52-6. PubMed ID: 21182502
    [Abstract] [Full Text] [Related]

  • 36. Recessive dystrophic epidermolysis bullosa caused by a de novo interstitial deletion spanning COL7A1 and a hemizygous splicing mutation in trans.
    Lee M, Xu G, Wang K, Wang H, Zhang J, Tang Z, Lin Z, Yang Y.
    Clin Exp Dermatol; 2016 Jun 18; 41(4):372-8. PubMed ID: 26940370
    [Abstract] [Full Text] [Related]

  • 37. A novel COL7A1 gene mutation in an Iranian individual suffering dystrophic epidermolysis bullosa.
    Galehdari H, Mohammadian G, Azmoon S, Salehi B, Pedram M.
    J Mol Diagn; 2010 May 18; 12(3):377-9. PubMed ID: 20190017
    [Abstract] [Full Text] [Related]

  • 38. Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness.
    Weinel S, Lucky AW, Uitto J, Pfendner EG, Choo D.
    Pediatr Dermatol; 2008 May 18; 25(2):210-4. PubMed ID: 18429782
    [Abstract] [Full Text] [Related]

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  • 40. 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 18; 6(7):1125-35. PubMed ID: 9215684
    [Abstract] [Full Text] [Related]

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