The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis
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Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis
Russell LJ, DiGiovanna JJ, Rogers GR et al. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nature Genet 1995; 9: 279-83.
Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: Private and recurrent mutations in an isolated population
Laiho E, Ignatius J, Mikkola H et al. Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population. Am J Hum Genet 1997; 61: 529-38.
Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma
Akiyama M, Takizawa Y, Kokaji T, Shimizu H. Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma. Br J Dermatol 2001; 144: 401-7.
Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma
Becker K, Csikos M, Sardy M et al. Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma. Exp Dermatol 2003; 12: 324-9.
Lipoxygenase-3 (ALOXE3) and 12 (R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1
Jobard F, Lefèvre C, Karaduman A et al. Lipoxygenase-3 (ALOXE3) and 12 (R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet 2002; 11: 107-13.
Collodion Baby. Ultrastructure and distribution of cornified cell envelope proteins and keratins
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In vitro and rapid in situ transglutaminase assays for congenital ichthyoses - A comparative study
Hohl D, Aeschlimann D, Huber M. In vitro and rapid in situ transglutaminase assays for congenital ichthyoses - a comparative study. J Invest Dermatol 1998; 110: 268-71.