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Journal Abstract Search

165 related items for PubMed ID: 24357266

  • 1. Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family.
    Dai L, Wu J, Guo H, Huang Y, Zhang K, Liu D, Fu L, Wu Y, Guan X, Bai Y, Liao Q.
    Eur J Pediatr; 2014 Jun; 173(6):737-41. PubMed ID: 24357266
    [Abstract] [Full Text] [Related]

  • 2. A KRT16 mutation in the first Chinese pedigree with Pachyonychia congenita and review of the literatures.
    Xu Q, Zhang Q, Tang L, Jin L, Wang X, Kan L, Zheng X, Yang S.
    J Cosmet Dermatol; 2019 Dec; 18(6):1930-1934. PubMed ID: 30859684
    [Abstract] [Full Text] [Related]

  • 3. Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma.
    Du ZF, Xu CM, Zhao Y, Liu WT, Chen XL, Chen CY, Fang H, Ke HP, Zhang XN.
    Eur J Dermatol; 2012 Dec; 22(4):476-80. PubMed ID: 22668561
    [Abstract] [Full Text] [Related]

  • 4. Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16.
    Spaunhurst KM, Hogendorf AM, Smith FJ, Lingala B, Schwartz ME, Cywinska-Bernas A, Zeman KJ, Tang JY.
    Br J Dermatol; 2012 Apr; 166(4):875-8. PubMed ID: 22098151
    [Abstract] [Full Text] [Related]

  • 5. A new KRT16 mutation associated with a phenotype of pachyonychia congenita.
    Paris F, Hurtado C, Azón A, Aguado L, Vizmanos JL.
    Exp Dermatol; 2013 Dec; 22(12):838-9. PubMed ID: 24118415
    [Abstract] [Full Text] [Related]

  • 6. A large mutational study in pachyonychia congenita.
    Wilson NJ, Leachman SA, Hansen CD, McMullan AC, Milstone LM, Schwartz ME, McLean WH, Hull PR, Smith FJ.
    J Invest Dermatol; 2011 May; 131(5):1018-24. PubMed ID: 21326300
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  • 7. A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.
    Liao H, Sayers JM, Wilson NJ, Irvine AD, Mellerio JE, Baselga E, Bayliss SJ, Uliana V, Fimiani M, Lane EB, McLean WH, Leachman SA, Smith FJ.
    J Dermatol Sci; 2007 Dec; 48(3):199-205. PubMed ID: 17719747
    [Abstract] [Full Text] [Related]

  • 8. The molecular genetic analysis of the expanding pachyonychia congenita case collection.
    Wilson NJ, O'Toole EA, Milstone LM, Hansen CD, Shepherd AA, Al-Asadi E, Schwartz ME, McLean WH, Sprecher E, Smith FJ.
    Br J Dermatol; 2014 Aug; 171(2):343-55. PubMed ID: 24611874
    [Abstract] [Full Text] [Related]

  • 9. Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations.
    Fu T, Leachman SA, Wilson NJ, Smith FJ, Schwartz ME, Tang JY.
    J Invest Dermatol; 2011 May; 131(5):1025-8. PubMed ID: 21160496
    [Abstract] [Full Text] [Related]

  • 10. Revisiting pachyonychia congenita: a case-cohort study of 815 patients.
    Samuelov L, Smith FJD, Hansen CD, Sprecher E.
    Br J Dermatol; 2020 Mar; 182(3):738-746. PubMed ID: 31823354
    [Abstract] [Full Text] [Related]

  • 11. Pathophysiology of pachyonychia congenita-associated palmoplantar keratoderma: new insights into skin epithelial homeostasis and avenues for treatment.
    Zieman AG, Coulombe PA.
    Br J Dermatol; 2020 Mar; 182(3):564-573. PubMed ID: 31021398
    [Abstract] [Full Text] [Related]

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  • 13. Identification of clinically useful predictive genetic variants in pachyonychia congenita.
    Samuelov L, Sarig O, Adir N, Pavlovsky M, Smith FJ, Schwartz J, Hansen CD, Sprecher E.
    Clin Exp Dermatol; 2021 Jul; 46(5):867-873. PubMed ID: 33486795
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  • 17. First case of pachyonychia congenita in the Czech Republic.
    Jiráková A, Rajská L, Rob F, Džambová M, Sečníková Z, Göpfertová D, Schwartz M, Smith F, Lotti T, Hercogová J.
    Dermatol Ther; 2015 Jul; 28(1):10-2. PubMed ID: 25174302
    [Abstract] [Full Text] [Related]

  • 18. Mutation p.Arg127Pro in the 1A Domain of KRT16 Causes Pachyonychia Congenita in Chinese Patient: A Case Report of PC Associated with Acral Melanoma.
    Ge WW, Chen ZM, Chou MW, Ismail F, Chen G, Wu LM, Yang JQ.
    Clin Cosmet Investig Dermatol; 2024 Jul; 17():1111-1116. PubMed ID: 38770089
    [Abstract] [Full Text] [Related]

  • 19. Keratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders.
    Lessard JC, Coulombe PA.
    J Invest Dermatol; 2012 May; 132(5):1384-91. PubMed ID: 22336941
    [Abstract] [Full Text] [Related]

  • 20. A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report.
    Li Y, Wang Y, Ming Y, Chaolan P, Jia Z, Cheng N, Qiaoyu C, Li M, Tianyi X.
    BMC Med Genomics; 2021 Nov 01; 14(1):259. PubMed ID: 34724947
    [Abstract] [Full Text] [Related]

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