8 results for author:"Rouan F." in Literature citations
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| Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations. Pfendner E., Rouan F., Uitto J. Exp. Dermatol. 14:241-249(2005) · Mapped (4) |
| Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro. Rouan F., Lo C.W., Fertala A., Wahl M., Jost M., Rodeck U., Uitto J., Richard G. Exp. Dermatol. 12:191-197(2003) · Mapped (1) |
| Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. Richard G., Brown N., Rouan F., Van der Schroeff J.G., Bijlsma E., Eichenfield L.F., Sybert V.P., Greer K.E., Hogan P., Campanelli C. et al. J. Invest. Dermatol. 120:601-609(2003) · Mapped (3) |
| Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Richard G., Rouan F., Willoughby C.E., Brown N., Chung P., Ryynanen M., Jabs E.W., Bale S.J., DiGiovanna J.J., Uitto J. et al. Am. J. Hum. Genet. 70:1341-1348(2002) · UniProtKB (1) · Mapped (2) |
| A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency. Bauer J.W., Rouan F., Kofler B., Rezniczek G.A., Kornacker I., Muss W., Hametner R., Klausegger A., Huber A., Pohla-Gubo G. et al. Am. J. Pathol. 158:617-625(2001) · UniProtKB (1) |
| Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1). Jonkman M.F., Moreno G., Rouan F., Oranje A.P., Pulkkinen L., Uitto J. J. Invest. Dermatol. 112:815-817(1999) · UniProtKB (1) |
| Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling. Rouan F., Pulkkinen L., Jonkman M.F., Bauer J.W., Cserhalmi-Friedman P.B., Christiano A.M., Uitto J. J. Invest. Dermatol. 111:1210-1213(1998) · UniProtKB (1) |
| Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. Pulkkinen L., Rouan F., Bruckner-Tuderman L., Wallerstein R., Garzon M., Brown T., Smith L., Carter W.G., Uitto J. Am. J. Hum. Genet. 63:1376-1387(1998) · UniProtKB (1) |