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Journal Abstract Search

162 related items for PubMed ID: 22695286

  • 1.
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  • 2. Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita.
    Wilson NJ, Pérez ML, Vahlquist A, Schwartz ME, Hansen CD, McLean WH, Smith FJ.
    J Invest Dermatol; 2012 Jul; 132(7):1921-4. PubMed ID: 22336949
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  • 3. 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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  • 4. 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
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  • 6. 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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  • 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
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  • 8. 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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  • 10. [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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  • 11. Pachyonychia congenita type 2 (Jackson-Lawler syndrome) or PC-17: case report.
    Morais P, Peralta L, Loureiro M, Coelho S.
    Acta Dermatovenerol Croat; 2013 Feb; 21(1):48-51. PubMed ID: 23683487
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  • 14. 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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  • 16. Pachyonychia Congenita Associated with a Novel Variant of KRT17 Presenting Unusual Oral Manifestations.
    Dabbagh B, Cukier O, Yeganeh M, Halal F, Dos Santos BF.
    J Dent Child (Chic); 2019 Jan 15; 86(1):61-63. PubMed ID: 30992103
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  • 18. A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb.
    Tsuda T, Ishikawa C, Nakagawa N, Konishi H, Tarutani M, Matsuki M, Yamanishi K.
    Br J Dermatol; 2008 Sep 15; 159(3):730-2. PubMed ID: 18547302
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