Esther Leshinsky-Silver
Molecular Genetics Laboratory
Wolfson Medical Center
Holon
Israel
Name/email consistency: high
- A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions. Leshinsky-Silver, E., Malinger, G., Ben-Sira, L., Kidron, D., Cohen, S., Inbar, S., Bezaleli, T., Levine, A., Vinkler, C., Lev, D., Lerman-Sagie, T. Eur. J. Hum. Genet. (2011)
- Juvenile Leigh Syndrome, Optic Atrophy, Ataxia, Dystonia, and Epilepsy due to T14487C Mutation in the mtDNA-ND6 Gene: A Mitochondrial Syndrome Presenting From Birth to Adolescence. Leshinsky-Silver, E., Shuvalov, R., Inbar, S., Cohen, S., Lev, D., Lerman-Sagie, T. J. Child Neurol. (2011)
- Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3. Leshinsky-Silver, E., Lev, D., Malinger, G., Shapira, D., Cohen, S., Lerman-Sagie, T., Saada, A. Mol. Genet. Metab. (2010)
- NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement. Leshinsky-Silver, E., Lebre, A.S., Minai, L., Saada, A., Steffann, J., Cohen, S., Rötig, A., Munnich, A., Lev, D., Lerman-Sagie, T. Mol. Genet. Metab. (2009)
- A defect in the thymidine kinase 2 gene causing isolated mitochondrial myopathy without mtDNA depletion. Leshinsky-Silver, E., Michelson, M., Cohen, S., Ginsberg, M., Sadeh, M., Barash, V., Lerman-Sagie, T., Lev, D. Eur. J. Paediatr. Neurol. (2008)
- Lack of association of the 3'-UTR polymorphism in the NFKBIA gene with Crohn's disease in an Israeli cohort. Leshinsky-Silver, E., Karban, A., Cohen, S., Fridlander, M., Davidowich, O., Kimmel, G., Shamir, R., Levine, A. Int. J. Colorectal. Dis (2007)
- Evaluation of the interleukin-23 receptor gene coding variant R381Q in pediatric and adult Crohn disease. Leshinsky-Silver, E., Karban, A., Dalal, I., Eliakim, R., Shirin, H., Tzofi, T., Boaz, M., Levine, A. J. Pediatr. Gastroenterol. Nutr. (2007)
- Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene. Leshinsky-Silver, E., Argov, Z., Rozenboim, L., Cohen, S., Tzofi, Z., Cohen, Y., Wirguin, Y., Dabby, R., Lev, D., Sadeh, M. Neuromuscul. Disord. (2007)
- Gene symbol: GJB2. Leshinsky-Silver, E., Berman, Z., Vinkler, C., Yannov-Sharav, M., Lev, D. Hum. Genet. (2007)
- Candidate gene polymorphism in cardiovascular disease: the BIP cohort. Leshinsky-Silver, E., Cheng, S., Grow, M.A., Shoshana, S., Scharf, L., Lev, D., Boaz, M., Brunner, D., Zimlichman, R. Isr. Med. Assoc. J. (2006)
- Congenital hyperreninemic hypoaldosteronism in Israel: sequence analysis of CYP11B2 gene. Leshinsky-Silver, E., Landau, Z., Unlubay, S., Bistrizer, T., Zung, A., Tenenbaum-Rakover, Y., Devries, L., Lev, D., Hanukoglu, A. Horm. Res. (2006)
- A novel missense mutation in the Connexin 26 gene associated with autosomal recessive sensorineural deafness. Leshinsky-Silver, E., Berman, Z., Vinkler, C., Yannov-Sharav, M., Lev, D. Hear. Res. (2005)
- Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene. Leshinsky-Silver, E., Lev, D., Tzofi-Berman, Z., Cohen, S., Saada, A., Yanoov-Sharav, M., Gilad, E., Lerman-Sagie, T. Biochem. Biophys. Res. Commun. (2005)
- Is age of onset of Crohn's disease governed by mutations in NOD2/caspase recruitment domains 15 and Toll-like receptor 4? Evaluation of a pediatric cohort. Leshinsky-Silver, E., Karban, A., Buzhakor, E., Fridlander, M., Yakir, B., Eliakim, R., Reif, S., Shaul, R., Boaz, M., Lev, D., Levine, A. Pediatr. Res. (2005)