Gabriele Richard
Department of Dermatology and Cutaneous Biology
Jefferson Medical College and Jefferson Institute of Molecular Medicine
Thomas Jefferson University
Philadelphia
USA
Name/email consistency: high
- 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., Compton, J.G., Bale, S.J., DiGiovanna, J.J., Uitto, J. J. Invest. Dermatol. (2003)
- Connexin gene pathology. Richard, G. Clin. Exp. Dermatol. (2003)
- 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., Ryynänen, M., Jabs, E.W., Bale, S.J., DiGiovanna, J.J., Uitto, J., Russell, L. Am. J. Hum. Genet. (2002)
- Human connexin disorders of the skin. Richard, G. Cell Commun. Adhes. (2001)
- Connexins: a connection with the skin. Richard, G. Exp. Dermatol. (2000)
- The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. Richard, G., Brown, N., Smith, L.E., Terrinoni, A., Melino, G., Mackie, R.M., Bale, S.J., Uitto, J. Hum. Genet. (2000)
- Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Richard, G., Smith, L.E., Bailey, R.A., Itin, P., Hohl, D., Epstein, E.H., DiGiovanna, J.J., Compton, J.G., Bale, S.J. Nat. Genet. (1998)