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Eli Sprecher

Department of Dermatology

Rambam Medical Center

Haifa 31096

Israel

[email]@*.health.gov.il

Name/email consistency: high

 
 
 
 
 
 
 

Affiliations

  • Department of Dermatology, Rambam Medical Center, Haifa 31096, Israel. 2001 - 2007
  • Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel. 2003 - 2007
  • Laboratory of Molecular Dermatology, Department of Dermatology, Rambam Health Care Campus, Faculty of Medicine and Rappaport Institute for Research in the Medical Sciences, Israel. 2007

References

  1. 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) [Pubmed]
  2. Tumoral calcinosis: new insights for the rheumatologist into a familial crystal deposition disease. Sprecher, E. Curr. Rheumatol. Rep (2007) [Pubmed]
  3. Genetic factors in the pathogenesis of UV-induced skin cancer1. Sprecher, E. Curr. Probl. Dermatol. (2007) [Pubmed]
  4. Genetic hair and nail disorders. Sprecher, E. Clin. Dermatol. (2005) [Pubmed]
  5. 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) [Pubmed]
  6. 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) [Pubmed]
  7. 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) [Pubmed]
  8. 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) [Pubmed]
  9. 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) [Pubmed]
 
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