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Journal Abstract Search

263 related items for PubMed ID: 22264670

  • 1. A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita.
    Eliason MJ, Leachman SA, Feng BJ, Schwartz ME, Hansen CD.
    J Am Acad Dermatol; 2012 Oct; 67(4):680-6. PubMed ID: 22264670
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  • 3. 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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  • 5. Pachyonychia congenita in pediatric patients: natural history, features, and impact.
    Shah S, Boen M, Kenner-Bell B, Schwartz M, Rademaker A, Paller AS.
    JAMA Dermatol; 2014 Feb; 150(2):146-53. PubMed ID: 24132595
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  • 8. 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
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  • 9. 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
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  • 10. Pachyonychia congenita: a case report.
    Kohli N.
    Cutis; 2009 Nov; 84(5):269-71. PubMed ID: 20099620
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  • 11. Pachyonychia congenita associated with median rhomboid glossitis.
    Karen JK, Schaffer JV.
    Dermatol Online J; 2007 Jan 27; 13(1):21. PubMed ID: 17511954
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  • 12. Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita.
    Wu TT, Eldirany SA, Bunick CG, Teng JMC.
    J Invest Dermatol; 2021 Dec 27; 141(12):2876-2884.e4. PubMed ID: 34116063
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  • 13. Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children.
    Goldberg I, Mashiah J, Kutz A, Derowe A, Warshauer E, Schwartz ME, Smith F, Sprecher E, Hansen CD.
    Br J Dermatol; 2020 Mar 27; 182(3):708-713. PubMed ID: 31777952
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  • 14. Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita.
    Agarwala M, Salphale P, Peter D, Wilson NJ, Pulimood S, Schwartz ME, Smith FJD.
    Indian J Dermatol; 2017 Mar 27; 62(4):422-426. PubMed ID: 28794556
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  • 15. Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation.
    Abdollahimajd F, Rajabi F, Shahidi-Dadras M, Saket S, Youssefian L, Vahidnezhad H, Uitto J.
    Br J Dermatol; 2019 Sep 27; 181(3):584-586. PubMed ID: 30307612
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  • 16. Phenotype and genotype features of Vietnamese children with pachyonychia congenita.
    Chu HT, Dinh Duong TA, Le DH, Le TV, Nguyen BB, Dang CV, Vu QV.
    Pediatr Neonatol; 2023 Jul 27; 64(4):405-410. PubMed ID: 36658016
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  • 18. 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 27; 132(5):1384-91. PubMed ID: 22336941
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  • 19. 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 27; 182(3):564-573. PubMed ID: 31021398
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  • 20. Pachyonychia congenita type 2 (Jackson-Lawler syndrome) or PC-17: case report.
    Morais P, Peralta L, Loureiro M, Coelho S.
    Acta Dermatovenerol Croat; 2013 Mar 27; 21(1):48-51. PubMed ID: 23683487
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