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Journal Abstract Search

407 related items for PubMed ID: 14708600

  • 1. Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis.
    Virtanen M, Smith SK, Gedde-Dahl T, Vahlquist A, Bowden PE.
    J Invest Dermatol; 2003 Nov; 121(5):1013-20. PubMed ID: 14708600
    [Abstract] [Full Text] [Related]

  • 2. Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1.
    Tal O, Bergman R, Alcalay J, Indelman M, Sprecher E.
    Clin Exp Dermatol; 2005 Jan; 30(1):64-7. PubMed ID: 15663507
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  • 4. Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs.
    Credille KM, Barnhart KF, Minor JS, Dunstan RW.
    Br J Dermatol; 2005 Jul; 153(1):51-8. PubMed ID: 16029326
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  • 5. Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression.
    Virtanen M, Gedde-Dahl T, Mörk NJ, Leigh I, Bowden PE, Vahlquist A.
    Acta Derm Venereol; 2001 Jul; 81(3):163-70. PubMed ID: 11558869
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  • 6. Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1.
    Terron-Kwiatkowski A, Paller AS, Compton J, Atherton DJ, McLean WH, Irvine AD.
    J Invest Dermatol; 2002 Oct; 119(4):966-71. PubMed ID: 12406346
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  • 7. Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation.
    Morais P, Mota A, Baudrier T, Lopes JM, Cerqueira R, Tavares P, Azevedo F.
    Eur J Dermatol; 2009 Oct; 19(4):333-6. PubMed ID: 19443303
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  • 9. Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.
    Smith FJD, Kreuser-Genis IM, Jury CS, Wilson NJ, Terron-Kwiatowski A, Zamiri M.
    Clin Exp Dermatol; 2019 Jul; 44(5):528-534. PubMed ID: 30288772
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  • 10. Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.
    Terron-Kwiatkowski A, Terrinoni A, Didona B, Melino G, Atherton DJ, Irvine AD, McLean WH.
    Br J Dermatol; 2004 Jun; 150(6):1096-103. PubMed ID: 15214894
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  • 11. Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads.
    Mo R, Lin M, Lee M, Yan W, Wang H, Lin Z.
    J Eur Acad Dermatol Venereol; 2022 Oct; 36(10):1857-1862. PubMed ID: 35490383
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  • 12. Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10.
    Covaciu C, Castori M, De Luca N, Ghirri P, Nannipieri A, Ragone G, Zambruno G, Castiglia D.
    Br J Dermatol; 2010 Jun; 162(6):1384-7. PubMed ID: 20302579
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  • 13. A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis.
    Müller FB, Huber M, Kinaciyan T, Hausser I, Schaffrath C, Krieg T, Hohl D, Korge BP, Arin MJ.
    Hum Mol Genet; 2006 Apr 01; 15(7):1133-41. PubMed ID: 16505000
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  • 14. A novel substitution in keratin 10 in epidermolytic hyperkeratosis.
    Arin MJ, Longley MA, Anton-Lamprecht I, Kurze G, Huber M, Hohl D, Rothnagel JA, Roop DR.
    J Invest Dermatol; 1999 Apr 01; 112(4):506-8. PubMed ID: 10201536
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  • 15. A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis.
    Bolling MC, Bladergroen RS, van Steensel MA, Willemsen M, Jonkman MF, van Geel M.
    Br J Dermatol; 2010 Apr 01; 162(4):875-9. PubMed ID: 20500210
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  • 16. Ultrastructural changes resulting from keratin-9 gene mutations in two families with epidermolytic palmoplantar keratoderma.
    Navsaria HA, Swensson O, Ratnavel RC, Shamsher M, McLean WH, Lane EB, Griffiths D, Eady RA, Leigh IM.
    J Invest Dermatol; 1995 Mar 01; 104(3):425-9. PubMed ID: 7532198
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  • 18. Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis.
    Tsubota A, Akiyama M, Sakai K, Goto M, Nomura Y, Ando S, Abe M, Sawamura D, Shimizu H.
    J Invest Dermatol; 2007 Jun 01; 127(6):1371-4. PubMed ID: 17255957
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  • 19. Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis.
    Bonifas JM, Matsumura K, Chen MA, Berth-Jones J, Hutchison PE, Zloczower M, Fritsch PO, Epstein EH.
    J Invest Dermatol; 1994 Oct 01; 103(4):474-7. PubMed ID: 7523529
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  • 20. A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma.
    Endo H, Hatamochi A, Shinkai H.
    J Invest Dermatol; 1997 Jul 01; 109(1):113-5. PubMed ID: 9204965
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