312 related articles for article (PubMed ID: 21271994)
1. 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]
2. 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]
3. 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]
4. 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]
5. Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10.
Covaciu C; Castori M; De Luca N; Ghirri P; Nannipieri A; Ragone G; Zambruno G; Castiglia D
Br J Dermatol; 2010 Jun; 162(6):1384-7. PubMed ID: 20302579
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs.
Credille KM; Barnhart KF; Minor JS; Dunstan RW
Br J Dermatol; 2005 Jul; 153(1):51-8. PubMed ID: 16029326
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event.
Lacz NL; Schwartz RA; Kihiczak G
Int J Dermatol; 2005 Jan; 44(1):1-6. PubMed ID: 15663649
[TBL] [Abstract][Full Text] [Related]
12. A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis.
Müller FB; Huber M; Kinaciyan T; Hausser I; Schaffrath C; Krieg T; Hohl D; Korge BP; Arin MJ
Hum Mol Genet; 2006 Apr; 15(7):1133-41. PubMed ID: 16505000
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens.
Rothnagel JA; Traupe H; Wojcik S; Huber M; Hohl D; Pittelkow MR; Saeki H; Ishibashi Y; Roop DR
Nat Genet; 1994 Aug; 7(4):485-90. PubMed ID: 7524919
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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; 39(6):440-444. PubMed ID: 28121638
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. [Mutation analysis of KRT10 gene in a patient with bullous congenital ichthyosiform erythroderma].
Zhang SD; Liu JJ; Tian W; Zhao ZJ; Zhao JJ
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Aug; 28(4):421-3. PubMed ID: 21811984
[TBL] [Abstract][Full Text] [Related]
19. Annular epidermolytic ichthyosis.
Naik NS
Dermatol Online J; 2003 Oct; 9(4):4. PubMed ID: 14594577
[TBL] [Abstract][Full Text] [Related]
20. Mutations in the genes for epidermal keratins in epidermolysis bullosa and epidermolytic hyperkeratosis.
Leigh IM; Lane EB
Arch Dermatol; 1993 Dec; 129(12):1571-7. PubMed ID: 7504434
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
