273 related articles for article (PubMed ID: 7678607)
1. Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster.
Pulkkinen L; Christiano AM; Knowlton RG; Uitto J
J Clin Invest; 1993 Jan; 91(1):357-61. PubMed ID: 7678607
[TBL] [Abstract][Full Text] [Related]
2. Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q.
Compton JG; DiGiovanna JJ; Santucci SK; Kearns KS; Amos CI; Abangan DL; Korge BP; McBride OW; Steinert PM; Bale SJ
Nat Genet; 1992 Jul; 1(4):301-5. PubMed ID: 1284546
[TBL] [Abstract][Full Text] [Related]
3. Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12.
Bonifas JM; Bare JW; Chen MA; Lee MK; Slater CA; Goldsmith LA; Epstein EH
J Invest Dermatol; 1992 Nov; 99(5):524-7. PubMed ID: 1385543
[TBL] [Abstract][Full Text] [Related]
4. Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis.
Arin MJ; Longley MA; Epstein EH; Rothnagel JA; Roop DR
Exp Dermatol; 2000 Feb; 9(1):16-9. PubMed ID: 10688370
[TBL] [Abstract][Full Text] [Related]
5. A keratin K10 gene mutation in a Japanese patient with epidermolytic hyperkeratosis.
Nomura K; Meng X; Umeki K; Tamai K; Sawamura D; Hashimoto I; Kikuchi T
Jpn J Hum Genet; 1997 Mar; 42(1):217-23. PubMed ID: 9184002
[TBL] [Abstract][Full Text] [Related]
6. Epidermolytic hyperkeratosis.
Bale SJ; Compton JG; DiGiovanna JJ
Semin Dermatol; 1993 Sep; 12(3):202-9. PubMed ID: 7692917
[TBL] [Abstract][Full Text] [Related]
7. Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene.
Cserhalmi-Friedman PB; Squeo R; Gordon D; Garzon M; Schneiderman P; Grossman ME; Christiano AM
Clin Exp Dermatol; 2000 May; 25(3):241-3. PubMed ID: 10844506
[TBL] [Abstract][Full Text] [Related]
8. 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]
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. 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]
11. 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]
12. An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1.
Kremer H; Lavrijsen AP; McLean WH; Lane EB; Melchers D; Ruiter DJ; Mariman EC; Steijlen PM
J Invest Dermatol; 1998 Dec; 111(6):1224-6. PubMed ID: 9856846
[TBL] [Abstract][Full Text] [Related]
13. Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ichthyosiform erythroderma.
Mayuzumi N; Shigihara T; Ikeda S; Ogawa H
J Eur Acad Dermatol Venereol; 2000 Jul; 14(4):304-6. PubMed ID: 11204523
[TBL] [Abstract][Full Text] [Related]
14. Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene.
Michael EJ; Schneiderman P; Grossman ME; Christiano AM
Exp Dermatol; 1999 Dec; 8(6):501-3. PubMed ID: 10597140
[TBL] [Abstract][Full Text] [Related]
15. Epidermolytic hyperkeratosis: applied molecular genetics.
DiGiovanna JJ; Bale SJ
J Invest Dermatol; 1994 Mar; 102(3):390-4. PubMed ID: 7509838
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Bullous congenital ichthyosiform erythroderma of Brocq.
Kucharekova M; Mosterd K; Winnepenninckx V; van Geel M; Sommer A; van Steensel MA
Int J Dermatol; 2007 Nov; 46 Suppl 3():36-8. PubMed ID: 17973888
[TBL] [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; 51(2):182-5. PubMed ID: 22250628
[TBL] [Abstract][Full Text] [Related]
19. 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; 111(6):1220-3. PubMed ID: 9856845
[TBL] [Abstract][Full Text] [Related]
20. [Bullous congenital ichthyosiform erythroderma of Brocq; 2 patients with different phenotype and genotype].
Lavrijsen AP; Bergman W; Steijlen PM
Ned Tijdschr Geneeskd; 2001 Aug; 145(31):1527-8. PubMed ID: 11569466
[No Abstract] [Full Text] [Related]
[Next] [New Search]