These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
30. A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients. Afzal S; Ramzan K; Ullah S; Wakil SM; Jamal A; Basit S; Waqar AB BMC Med Genet; 2020 Jan; 21(1):20. PubMed ID: 32005174 [TBL] [Abstract][Full Text] [Related]
31. Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis. Sandilands A; O'Regan GM; Liao H; Zhao Y; Terron-Kwiatkowski A; Watson RM; Cassidy AJ; Goudie DR; Smith FJ; McLean WH; Irvine AD J Invest Dermatol; 2006 Aug; 126(8):1770-5. PubMed ID: 16810297 [TBL] [Abstract][Full Text] [Related]
32. Whole exome sequencing identified two point mutations of COL7A1 and FLG in a Chinese family with dystrophic epidermolysis bullous pruriginosa and ichthyosis vulgaris. Gong L; Liu CC; Li YH; Xu XG J Dermatol; 2019 Feb; 46(2):158-160. PubMed ID: 30549102 [TBL] [Abstract][Full Text] [Related]
33. Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1. Compton JG; DiGiovanna JJ; Johnston KA; Fleckman P; Bale SJ Exp Dermatol; 2002 Dec; 11(6):518-26. PubMed ID: 12473059 [TBL] [Abstract][Full Text] [Related]
34. Filaggrin genotype determines functional and molecular alterations in skin of patients with atopic dermatitis and ichthyosis vulgaris. Winge MC; Hoppe T; Berne B; Vahlquist A; Nordenskjöld M; Bradley M; Törmä H PLoS One; 2011; 6(12):e28254. PubMed ID: 22164253 [TBL] [Abstract][Full Text] [Related]
36. On the role of the epidermal differentiation complex in ichthyosis vulgaris, atopic dermatitis and psoriasis. Hoffjan S; Stemmler S Br J Dermatol; 2007 Sep; 157(3):441-9. PubMed ID: 17573887 [TBL] [Abstract][Full Text] [Related]
37. Filaggrin mutation c.3321delA in a Korean patient with ichthyosis vulgaris and atopic dermatitis. Kang TW; Lee JS; Oh SW; Kim SC Dermatology; 2009; 218(2):186-7. PubMed ID: 18841000 [No Abstract] [Full Text] [Related]
38. Filaggrin gene defects and the risk of developing allergic disorders. Osawa R; Akiyama M; Shimizu H Allergol Int; 2011 Mar; 60(1):1-9. PubMed ID: 21173567 [TBL] [Abstract][Full Text] [Related]
39. Palmar hyperlinearity in early childhood atopic dermatitis is associated with filaggrin mutation and sensitization to egg. Fukuie T; Yasuoka R; Fujiyama T; Sakabe JI; Taguchi T; Tokura Y Pediatr Dermatol; 2019 Mar; 36(2):213-218. PubMed ID: 30810250 [TBL] [Abstract][Full Text] [Related]
40. Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. Nomura T; Akiyama M; Sandilands A; Nemoto-Hasebe I; Sakai K; Nagasaki A; Ota M; Hata H; Evans AT; Palmer CN; Shimizu H; McLean WH J Invest Dermatol; 2008 Jun; 128(6):1436-41. PubMed ID: 18200065 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]