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Journal Abstract Search

144 related items for PubMed ID: 30992103

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  • 2. 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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  • 3. 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
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  • 5. Double trouble: homozygous dominant mutations and hair loss in pachyonychia congenita.
    Irvine AD.
    J Invest Dermatol; 2012 Jul; 132(7):1757-9. PubMed ID: 22695286
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  • 7. 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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  • 11. [Keratin 17 mutation in pachyonychia congenita type 2 in a Chinese Han family].
    Zhang SD, Lin ZX, Zhang ZH, Liu JJ, Tian W, Zhao JJ.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Feb; 28(1):6-9. PubMed ID: 21287500
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  • 12. Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view.
    Cogulu O, Onay H, Aykut A, Wilson NJ, Smith FJ, Dereli T, Ozkinay F.
    Eur J Pediatr; 2009 Oct; 168(10):1269-72. PubMed ID: 19107515
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  • 16. Morphological and genetic analysis of steatocystoma multiplex in an Asian family with pachyonychia congenita type 2 harbouring a KRT17 missense mutation.
    Kanda M, Natsuga K, Nishie W, Akiyama M, Nagasaki A, Shimizu T, Shimizu H.
    Br J Dermatol; 2009 Feb; 160(2):465-8. PubMed ID: 19120334
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  • 17. 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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  • 19. Identification of a novel substitution mutation (R103C) in the rod domain of the keratin 17 gene associated with pachyonychia congenita type 2.
    Ghazawi FM, Hassani-Ardakani K, Henriques L, Jafarian F.
    Int J Dermatol; 2019 Feb; 58(2):233-236. PubMed ID: 29904921
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