Eli Sprecher
Department of Dermatology
Rambam Medical Center
Haifa 31096
Israel
Name/email consistency: high
- Galli-Galli disease is an acantholytic variant of Dowling-Degos disease. Sprecher, E., Indelman, M., Khamaysi, Z., Lugassy, J., Petronius, D., Bergman, R. Br. J. Dermatol. (2007)
- Tumoral calcinosis: new insights for the rheumatologist into a familial crystal deposition disease. Sprecher, E. Curr. Rheumatol. Rep (2007)
- Genetic factors in the pathogenesis of UV-induced skin cancer1. Sprecher, E. Curr. Probl. Dermatol. (2007)
- Genetic hair and nail disorders. Sprecher, E. Clin. Dermatol. (2005)
- A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. Sprecher, E., Ishida-Yamamoto, A., Mizrahi-Koren, M., Rapaport, D., Goldsher, D., Indelman, M., Topaz, O., Chefetz, I., Keren, H., O'brien, T.J., Bercovich, D., Shalev, S., Geiger, D., Bergman, R., Horowitz, M., Mandel, H. Am. J. Hum. Genet. (2005)
- Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families. Sprecher, E., Molho-Pessach, V., Ingber, A., Sagi, E., Indelman, M., Bergman, R. J. Invest. Dermatol. (2004)
- Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome. Sprecher, E., Tesfaye-Kedjela, A., Ratajczak, P., Bergman, R., Richard, G. Clin. Exp. Dermatol. (2004)
- Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5. Sprecher, E., Yosipovitch, G., Bergman, R., Ciubutaro, D., Indelman, M., Pfendner, E., Goh, L.C., Miller, C.J., Uitto, J., Richard, G. J. Invest. Dermatol. (2003)
- Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin. Sprecher, E., Bergman, R., Richard, G., Lurie, R., Shalev, S., Petronius, D., Shalata, A., Anbinder, Y., Leibu, R., Perlman, I., Cohen, N., Szargel, R. Nat. Genet. (2001)