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Journal Abstract Search

179 related items for PubMed ID: 23278621

  • 1. A novel mutation of keratin 17 gene in a pedigree with pachyonychia congenita type 2.
    Qiang W, Kaibo W, Tienan L, Guilan Z, Yueyang L, Ting X, Fangji S.
    Int J Dermatol; 2013 Jan; 52(1):117-9. PubMed ID: 23278621
    [No Abstract] [Full Text] [Related]

  • 2. Recurrent mutation in keratin 17 in a large family with pachyonychia congenita type 2.
    Oh Adib C, Jones B, Liao H, Smith FJ, Solomon R, Egan CA, Leachman S.
    Arch Dermatol Res; 2008 Jun; 300(5):211-4. PubMed ID: 18347808
    [No Abstract] [Full Text] [Related]

  • 3. 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
    [No Abstract] [Full Text] [Related]

  • 4. 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
    [No Abstract] [Full Text] [Related]

  • 5. A novel mutation (p.Arg94Gly) of keratin 17 in a Chinese family with steatocystoma multiplex.
    Zang D, Zhou C, He M, Ma X, Zhang J.
    Eur J Dermatol; 2011 Feb; 21(1):142-4. PubMed ID: 21262598
    [No Abstract] [Full Text] [Related]

  • 6. 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
    [No Abstract] [Full Text] [Related]

  • 7. [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
    [Abstract] [Full Text] [Related]

  • 8. Pachyonychia congenita: a case report.
    Kohli N.
    Cutis; 2009 Nov; 84(5):269-71. PubMed ID: 20099620
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. 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; 159(3):730-2. PubMed ID: 18547302
    [No Abstract] [Full Text] [Related]

  • 11. Modulation of keratin deposition and pathogenesis of hidradenitis suppurativa: evidence coming from pachyonychia congenita.
    Giamarellos-Bourboulis EJ.
    Br J Dermatol; 2022 Nov; 187(5):e170-e171. PubMed ID: 35996837
    [No Abstract] [Full Text] [Related]

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  • 14. Familial pachyonychia congenita with steatocystoma multiplex and multiple abscesses of the scalp due to the p.Asn92Ser mutation in keratin 17.
    Ofaiche J, Duchatelet S, Fraitag S, Nassif A, Nougué J, Hovnanian A.
    Br J Dermatol; 2014 Dec; 171(6):1565-7. PubMed ID: 24842198
    [No Abstract] [Full Text] [Related]

  • 15. [Genetic study of a Chinese pedigree affected with pachyonychia congenita].
    Zhao F, Xing B, Xiao J, Zhao X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Oct 10; 36(10):985-988. PubMed ID: 31598941
    [Abstract] [Full Text] [Related]

  • 16. Double trouble: homozygous dominant mutations and hair loss in pachyonychia congenita.
    Irvine AD.
    J Invest Dermatol; 2012 Jul 10; 132(7):1757-9. PubMed ID: 22695286
    [Abstract] [Full Text] [Related]

  • 17. Steatocystoma multiplex, oligodontia and partial persistent primary dentition associated with a novel keratin 17 mutation.
    Gass JK, Wilson NJ, Smith FJ, Lane EB, McLean WH, Rytina E, Salvary I, Burrows NP.
    Br J Dermatol; 2009 Dec 10; 161(6):1396-8. PubMed ID: 19659471
    [No Abstract] [Full Text] [Related]

  • 18. Novel mutation (p.L91P, c.272T>C) of keratin 17 in a case with pachyonychia congenita type 2.
    Ichimiya M, Yamaguchi M, Nemoto K, Muto M.
    J Dermatol; 2013 Sep 10; 40(9):757-8. PubMed ID: 23855588
    [No Abstract] [Full Text] [Related]

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  • 20. 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 10; 171(2):343-55. PubMed ID: 24611874
    [Abstract] [Full Text] [Related]

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