Below are the most recent publications written about "Epidermolysis Bullosa Simplex" by people in Profiles.
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Kim EN, Harris AG, Bingham LJ, Yan W, Su JC, Murrell DF. A Review of 52 Pedigrees with Epidermolysis Bullosa Simplex Identifying Ten Novel Mutations in KRT5 and KRT14 in Australia. Acta Derm Venereol. 2017 Oct 02; 97(9):1114-1119.
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Villa CR, Ryan TD, Collins JJ, Taylor MD, Lucky AW, Jefferies JL. Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation. Neuromuscul Disord. 2015 Feb; 25(2):165-8.
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Crombie J, Greenlaw S, Fenner J, Lyle S, Wiss K. Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type. J Am Acad Dermatol. 2012 Sep; 67(3):e120-1.
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Weiner M, Stein A, Cash S, de Leoz J, Fine JD. Tetracycline and epidermolysis bullosa simplex: a double-blind, placebo-controlled, crossover randomized clinical trial. Br J Dermatol. 2004 Mar; 150(3):613-4.
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Arbiser JL, Fine JD, Murrell D, Paller A, Connors S, Keough K, Marsh E, Folkman J. Basic fibroblast growth factor: a missing link between collagen VII, increased collagenase, and squamous cell carcinoma in recessive dystrophic epidermolysis bullosa. Mol Med. 1998 Mar; 4(3):191-5.
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Fuchs E, Coulombe P, Cheng J, Chan YM, Hutton E, Syder A, Degenstein L, Yu QC, Letai A, Vassar R. Genetic bases of epidermolysis bullosa simplex and epidermolytic hyperkeratosis. J Invest Dermatol. 1994 Nov; 103(5 Suppl):25S-30S.
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Chan YM, Yu QC, LeBlanc-Straceski J, Christiano A, Pulkkinen L, Kucherlapati RS, Uitto J, Fuchs E. Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex. J Cell Sci. 1994 Apr; 107 ( Pt 4):765-74.
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Letai A, Coulombe PA, McCormick MB, Yu QC, Hutton E, Fuchs E. Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex. Proc Natl Acad Sci U S A. 1993 Apr 15; 90(8):3197-201.
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Adamis AP, Schein OD, Kenyon KR. Anterior corneal disease of epidermolysis bullosa simplex. Arch Ophthalmol. 1993 Apr; 111(4):499-502.
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Kates SG, Sueki H, Honig PJ, Murphy GF. Immunohistochemical and ultrastructural characterization of tonofilament and hemidesmosome abnormalities in a case of epidermolysis bullosa herpetiformis (Dowling-Meara). J Am Acad Dermatol. 1992 Dec; 27(6 Pt 1):929-34.