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5. A novel in situ method for the detection of deficient transglutaminase activity in the skin. Raghunath M; Hennies HC; Velten F; Wiebe V; Steinert PM; Reis A; Traupe H Arch Dermatol Res; 1998 Nov; 290(11):621-7. PubMed ID: 9860283 [TBL] [Abstract][Full Text] [Related]
6. Specific TGM1 mutation profiles in bathing suit and self-improving collodion ichthyoses: phenotypic and genotypic data from 9 patients with dynamic phenotypes of autosomal recessive congenital ichthyosis. Bourrat E; Blanchet-Bardon C; Derbois C; Cure S; Fischer J Arch Dermatol; 2012 Oct; 148(10):1191-5. PubMed ID: 22801880 [TBL] [Abstract][Full Text] [Related]
7. Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. Vahlquist A; Bygum A; Gånemo A; Virtanen M; Hellström-Pigg M; Strauss G; Brandrup F; Fischer J J Invest Dermatol; 2010 Feb; 130(2):438-43. PubMed ID: 19890349 [TBL] [Abstract][Full Text] [Related]
8. Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis. Hackett BC; Fitzgerald D; Watson RM; Hol FA; Irvine AD Br J Dermatol; 2010 Feb; 162(2):448-51. PubMed ID: 19863506 [No Abstract] [Full Text] [Related]
9. In vitro and rapid in situ transglutaminase assays for congenital ichthyoses--a comparative study. Hohl D; Aeschlimann D; Huber M J Invest Dermatol; 1998 Mar; 110(3):268-71. PubMed ID: 9506447 [TBL] [Abstract][Full Text] [Related]
10. Congenital recessive ichthyosis unlinked to loci for epidermal transglutaminases. Bale SJ; Russell LJ; Lee ML; Compton JG; DiGiovanna JJ J Invest Dermatol; 1996 Dec; 107(6):808-11. PubMed ID: 8941665 [TBL] [Abstract][Full Text] [Related]
11. Pleomorphic ichthyosis: proposed name for a heterogeneous group of congenital ichthyoses with phenotypic shifting and mild residual scaling. Vahlquist A Acta Derm Venereol; 2010 Sep; 90(5):454-60. PubMed ID: 20814618 [TBL] [Abstract][Full Text] [Related]
12. Analyses of the transglutaminase 1 gene mutation and ultrastructural characteristics in a Japanese patient with lamellar ichthyosis. Yotsumoto S; Akiyama M; Yoneda K; Fukushige T; Kobayashi K; Saheki T; Kanzaki T J Dermatol Sci; 2000 Nov; 24(2):119-25. PubMed ID: 11064247 [TBL] [Abstract][Full Text] [Related]
13. Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with lamellar ichthyosis. Hennies HC; Raghunath M; Wiebe V; Vogel M; Velten F; Traupe H; Reis A Hum Genet; 1998 Mar; 102(3):314-8. PubMed ID: 9544844 [TBL] [Abstract][Full Text] [Related]
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15. [Collodion baby. Clinical course based on 29 cases]. Larrègue M; Gharbi R; Daniel J; Le Marec Y; Civatte J Ann Dermatol Syphiligr (Paris); 1976; 103(1):31-56. PubMed ID: 793506 [TBL] [Abstract][Full Text] [Related]
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17. [Novel compound heterozygous mutations of TGM1 gene identified in a Chinese collodion baby]. Zhang YL; Yue ZH; Yuan P; Zhou Q; Huang WJ; Hu B; Wang YM Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Feb; 29(1):1-4. PubMed ID: 22311480 [TBL] [Abstract][Full Text] [Related]
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20. Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean. Sugiura K; Takeichi T; Tanahashi K; Ito Y; Kosho T; Saida K; Uhara H; Okuyama R; Akiyama M J Dermatol Sci; 2013 Nov; 72(2):193-5. PubMed ID: 23871423 [No Abstract] [Full Text] [Related] [Next] [New Search]