287 related articles for article (PubMed ID: 30288772)
1. 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; 44(5):528-534. PubMed ID: 30288772
[TBL] [Abstract][Full Text] [Related]
2. Infantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma.
Austin Smith W; Cope A; Fernandez M; Parekh P
Dermatol Online J; 2016 Apr; 22(4):. PubMed ID: 27617465
[TBL] [Abstract][Full Text] [Related]
3. 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; 36(10):1857-1862. PubMed ID: 35490383
[TBL] [Abstract][Full Text] [Related]
4. Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis.
Virtanen M; Smith SK; Gedde-Dahl T; Vahlquist A; Bowden PE
J Invest Dermatol; 2003 Nov; 121(5):1013-20. PubMed ID: 14708600
[TBL] [Abstract][Full Text] [Related]
5. 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; 162(4):875-9. PubMed ID: 20500210
[TBL] [Abstract][Full Text] [Related]
6. 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; 96(4):473-8. PubMed ID: 26581228
[TBL] [Abstract][Full Text] [Related]
7. Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation.
Morais P; Mota A; Baudrier T; Lopes JM; Cerqueira R; Tavares P; Azevedo F
Eur J Dermatol; 2009; 19(4):333-6. PubMed ID: 19443303
[TBL] [Abstract][Full Text] [Related]
8. 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; 26(7):. PubMed ID: 32898404
[TBL] [Abstract][Full Text] [Related]
9. A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma.
Bergman R; Khamaysi Z; Sprecher E
Am J Dermatopathol; 2008 Apr; 30(2):101-5. PubMed ID: 18360110
[TBL] [Abstract][Full Text] [Related]
10. 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; 47(9):e336-e339. PubMed ID: 32588446
[No Abstract] [Full Text] [Related]
11. Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.
Terron-Kwiatkowski A; Terrinoni A; Didona B; Melino G; Atherton DJ; Irvine AD; McLean WH
Br J Dermatol; 2004 Jun; 150(6):1096-103. PubMed ID: 15214894
[TBL] [Abstract][Full Text] [Related]
12. Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.
Arin MJ; Oji V; Emmert S; Hausser I; Traupe H; Krieg T; Grimberg G
Br J Dermatol; 2011 Feb; 164(2):442-7. PubMed ID: 21271994
[TBL] [Abstract][Full Text] [Related]
13. Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1.
Tal O; Bergman R; Alcalay J; Indelman M; Sprecher E
Clin Exp Dermatol; 2005 Jan; 30(1):64-7. PubMed ID: 15663507
[TBL] [Abstract][Full Text] [Related]
14. Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression.
Virtanen M; Gedde-Dahl T; Mörk NJ; Leigh I; Bowden PE; Vahlquist A
Acta Derm Venereol; 2001; 81(3):163-70. PubMed ID: 11558869
[TBL] [Abstract][Full Text] [Related]
15. 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; 40(6):1149-1151. PubMed ID: 37170713
[TBL] [Abstract][Full Text] [Related]
16. 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; 24(11):883-5. PubMed ID: 26120802
[No Abstract] [Full Text] [Related]
17. 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
[TBL] [Abstract][Full Text] [Related]
18. 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; 30(3):294-299. PubMed ID: 32666929
[TBL] [Abstract][Full Text] [Related]
19. 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; 40(8):879-82. PubMed ID: 25808222
[TBL] [Abstract][Full Text] [Related]
20. First Case of
Diociaiuti A; Castiglia D; Corbeddu M; Rotunno R; Rossi S; Pisaneschi E; Cesario C; Condorelli AG; Zambruno G; El Hachem M
Int J Mol Sci; 2020 Oct; 21(20):. PubMed ID: 33081034
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]