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Journal Abstract Search

144 related items for PubMed ID: 30152556

  • 1. A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.
    Zaki TD, Yoo KY, Kassardjian M, Choate KA.
    Pediatr Dermatol; 2018 Nov; 35(6):e414-e415. PubMed ID: 30152556
    [Abstract] [Full Text] [Related]

  • 2. Annular epidermolytic ichthyosis: a case report and literature review.
    Mikilita ES, Hernandez IP, Boff AL, Kiszewski AE.
    An Bras Dermatol; 2020 Nov; 95(4):484-489. PubMed ID: 32482553
    [Abstract] [Full Text] [Related]

  • 3. Annular epidermolytic ichthyosis with palmoplantar keratosis: a unique phenotype associated with interfamilial phenotypic heterogeneity.
    Liang B, Yuan T, Zhou Y, Ding Y, Tang L, Wang F, Wang P, Li H, Zhang Y, Zhu M, Ji Y, Hong X, Zhang X, Zhu Q.
    Eur J Dermatol; 2020 Jun 01; 30(3):294-299. PubMed ID: 32666929
    [Abstract] [Full Text] [Related]

  • 4. Annular Epidermolytic Ichthyosis Mimicking Greither Disease: A Case Report and Literature Review.
    Almuqarrab FJ, Alakloby OM, Alqahtani JM, Hennies HC.
    Am J Case Rep; 2022 Feb 24; 23():e935393. PubMed ID: 35202349
    [Abstract] [Full Text] [Related]

  • 5. A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma.
    Calì F, Failla P, Vinci M, Siragusa M, Schepis C.
    Dermatol Online J; 2020 Jul 15; 26(7):. PubMed ID: 32898404
    [Abstract] [Full Text] [Related]

  • 6. Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.
    Smith FJD, Kreuser-Genis IM, Jury CS, Wilson NJ, Terron-Kwiatowski A, Zamiri M.
    Clin Exp Dermatol; 2019 Jul 15; 44(5):528-534. PubMed ID: 30288772
    [Abstract] [Full Text] [Related]

  • 7. Two cases of KRT1 mutation-associated epidermolytic ichthyosis without typical epidermolytic hyperkeratosis in the neonatal skin lesions.
    Kim T, Kim SC, Lee SE.
    Pediatr Dermatol; 2023 Jul 15; 40(6):1149-1151. PubMed ID: 37170713
    [Abstract] [Full Text] [Related]

  • 8. Mild epidermolytic ichthyosis with palmoplantar keratoderma due to the KRT1 mutation p.lle479Thr.
    Murase Y, Tanahashi K, Takeichi T, Sugiura K, Aiyama A, Nishida K, Mitsuma T, Akiyama M.
    J Dermatol; 2020 Sep 15; 47(9):e336-e339. PubMed ID: 32588446
    [No Abstract] [Full Text] [Related]

  • 9. Infantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma.
    Austin Smith W, Cope A, Fernandez M, Parekh P.
    Dermatol Online J; 2016 Apr 18; 22(4):. PubMed ID: 27617465
    [Abstract] [Full Text] [Related]

  • 10. Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1.
    Nellen RG, Nagtzaam IF, Hoogeboom AJ, Bladergroen RS, Jonkman MF, Steijlen PM, van Steensel MA, van Geel M.
    Exp Dermatol; 2015 Nov 18; 24(11):883-5. PubMed ID: 26120802
    [No Abstract] [Full Text] [Related]

  • 11. Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads.
    Mo R, Lin M, Lee M, Yan W, Wang H, Lin Z.
    J Eur Acad Dermatol Venereol; 2022 Oct 18; 36(10):1857-1862. PubMed ID: 35490383
    [Abstract] [Full Text] [Related]

  • 12. Epidermolytic Ichthyosis Sine Epidermolysis.
    Eskin-Schwartz M, Drozhdina M, Sarig O, Gat A, Jackman T, Isakov O, Shomron N, Samuelov L, Malchin N, Peled A, Vodo D, Hovnanian A, Ruzicka T, Koshkin S, Harmon RM, Koetsier JL, Green KJ, Paller AS, Sprecher E.
    Am J Dermatopathol; 2017 Jun 18; 39(6):440-444. PubMed ID: 28121638
    [Abstract] [Full Text] [Related]

  • 13. Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.
    Hotz A, Oji V, Bourrat E, Jonca N, Mazereeuw-Hautier J, Betz RC, Blume-Peytavi U, Stieler K, Morice-Picard F, Schönbuchner I, Markus S, Schlipf N, Fischer J.
    Acta Derm Venereol; 2016 May 18; 96(4):473-8. PubMed ID: 26581228
    [Abstract] [Full Text] [Related]

  • 14. A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma.
    Bergman R, Khamaysi Z, Sprecher E.
    Am J Dermatopathol; 2008 Apr 18; 30(2):101-5. PubMed ID: 18360110
    [Abstract] [Full Text] [Related]

  • 15. Epidermolytic ichthyosis in a child and systematized epidermolytic nevi in the mosaic parent associated with a KRT1 variant.
    Chia SY, Tan EC, Wei H, Zhao Y, Koh MJA.
    Eur J Med Genet; 2021 Nov 18; 64(11):104324. PubMed ID: 34461324
    [Abstract] [Full Text] [Related]

  • 16. Extensive Post-zygotic Mosaicism of KRT1 or KRT10 Mutation Mimicking Classical Epider-molytic Ichthyosis.
    Severino-Freire M, Jonca N, Pichery M, Tournier E, Chassaing N, Mazereeuw-Hautier J.
    Acta Derm Venereol; 2017 Mar 10; 97(3):387-388. PubMed ID: 27722766
    [No Abstract] [Full Text] [Related]

  • 17. A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis.
    Bolling MC, Bladergroen RS, van Steensel MA, Willemsen M, Jonkman MF, van Geel M.
    Br J Dermatol; 2010 Apr 10; 162(4):875-9. PubMed ID: 20500210
    [Abstract] [Full Text] [Related]

  • 18. A recurrent missense mutation of keratin 1 gene in a Chinese family with epidermolytic hyperkeratosis (severe palmoplantar hyperkeratosis, type 1).
    Zeng YP, Chai WX, Fang K, Sun QN, Zuo YG.
    Int J Dermatol; 2012 Feb 10; 51(2):182-5. PubMed ID: 22250628
    [Abstract] [Full Text] [Related]

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  • 20. A KRT1 gene mutation related to epidermolytic ichthyosis in a Chinese family.
    Ji YZ, Bai Y, Wang S, Li FQ.
    Clin Exp Dermatol; 2015 Dec 10; 40(8):879-82. PubMed ID: 25808222
    [Abstract] [Full Text] [Related]

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