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Journal Abstract Search
166 related items for PubMed ID: 32666929
1. 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]
2. A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma. Bergman R, Khamaysi Z, Sprecher E. Am J Dermatopathol; 2008 Apr 01; 30(2):101-5. PubMed ID: 18360110 [Abstract] [Full Text] [Related]
3. 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]
4. 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 15; 35(6):e414-e415. PubMed ID: 30152556 [Abstract] [Full Text] [Related]
6. Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1. Sybert VP, Francis JS, Corden LD, Smith LT, Weaver M, Stephens K, McLean WH. Am J Hum Genet; 1999 Mar 15; 64(3):732-8. PubMed ID: 10053007 [Abstract] [Full Text] [Related]
7. De Novo Mutation in KRT1 Leads to Epidermolytic Palmoplantar Keratoderma: from Chinese Traditional Treatment to Prenatal Diagnosis Using Whole-Exome Sequencing-Plus. Ge M, Ji C, Li H, Huang H. DNA Cell Biol; 2023 Oct 15; 42(10):645-652. PubMed ID: 37566479 [Abstract] [Full Text] [Related]
8. 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]
9. 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 15; 36(10):1857-1862. PubMed ID: 35490383 [Abstract] [Full Text] [Related]
10. 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 15; 51(2):182-5. PubMed ID: 22250628 [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 15; 39(6):440-444. PubMed ID: 28121638 [Abstract] [Full Text] [Related]
15. 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 15; 24(11):883-5. PubMed ID: 26120802 [No Abstract] [Full Text] [Related]
17. A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. Suga Y, Duncan KO, Heald PW, Roop DR. J Invest Dermatol; 1998 Dec 15; 111(6):1220-3. PubMed ID: 9856845 [Abstract] [Full Text] [Related]
20. 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 Dec 15; 40(6):1149-1151. PubMed ID: 37170713 [Abstract] [Full Text] [Related] Page: [Next] [New Search]