Anikster Y - Search Results

1

A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.

Pode-Shakked B, Ben-Moshe Y, Barel O, Regev LC, Kagan M, Eliyahu A, Marek-Yagel D, Atias-Varon D, Lahav E, Issler N, Shlomovitz O, Semo Oz R, Kol N, Mor N, Bar-Joseph I, Khavkin Y, Javasky E, Beckerman P, Greenberg M, Volovelsky O, Borovitz Y, Davidovits M, Haskin O, Alfandary H, Levi S, Kaidar M, Katzir Z, Angel-Korman A, Becker-Cohen R, Ben-Shalom E, Leiba A, Mor E, Dagan A, Pessach IM, Lotan D, Shashar M, Anikster Y, Raas-Rothschild A, Rechavi G, Dekel B, Vivante A. Pode-Shakked B, et al. Among authors: anikster y. Pediatr Nephrol. 2022 Jul;37(7):1623-1646. doi: 10.1007/s00467-021-05374-4. Epub 2022 Jan 7. Pediatr Nephrol. 2022. PMID: 34993602

2

Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome.

Lotan D, Eisenkraft A, Jacobsson JM, Bar-Yosef O, Kleta R, Gal N, Raviv-Zilka L, Gore H, Anikster Y. Lotan D, et al. Among authors: anikster y. Pediatr Nephrol. 2006 Mar;21(3):423-6. doi: 10.1007/s00467-005-2125-0. Epub 2005 Dec 29. Pediatr Nephrol. 2006. PMID: 16382316

3

Audiometric and imaging characteristics of distal renal tubular acidosis and deafness.

Joshua B, Kaplan DM, Raveh E, Lotan D, Anikster Y. Joshua B, et al. Among authors: anikster y. J Laryngol Otol. 2008 Feb;122(2):193-8. doi: 10.1017/S0022215107009747. Epub 2007 Aug 1. J Laryngol Otol. 2008. PMID: 17669226

4

Schimke immuno-osseous dysplasia: expression of SMARCAL1 in blood and kidney provides novel insight into disease phenotype.

Dekel B, Metsuyanim S, Goldstein N, Pode-Shakked N, Kovalski Y, Cohen Y, Davidovits M, Anikster Y. Dekel B, et al. Among authors: anikster y. Pediatr Res. 2008 Apr;63(4):398-403. doi: 10.1203/PDR.0b013e31816721cc. Pediatr Res. 2008. PMID: 18356746

5

Molecular assessment of thymic capacities in patients with Schimke immuno-osseous dysplasia.

Lev A, Amariglio N, Levy Y, Spirer Z, Anikster Y, Rechavi G, Dekel B, Somech R. Lev A, et al. Among authors: anikster y. Clin Immunol. 2009 Dec;133(3):375-81. doi: 10.1016/j.clim.2009.08.017. Epub 2009 Sep 30. Clin Immunol. 2009. PMID: 19796992

6

The GALT rush: high carrier frequency of an unusual deletion mutation of the GALT gene in the Ashkenazi population.

Goldstein N, Cohen Y, Pode-Shakked B, Sigalov E, Vilensky B, Peleg L, Anikster Y. Goldstein N, et al. Among authors: anikster y. Mol Genet Metab. 2011 Feb;102(2):157-60. doi: 10.1016/j.ymgme.2010.10.007. Epub 2010 Oct 20. Mol Genet Metab. 2011. PMID: 21059483

7

Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutations.

Vecsler M, Ben Zeev B, Nudelman I, Anikster Y, Simon AJ, Amariglio N, Rechavi G, Baasov T, Gak E. Vecsler M, et al. Among authors: anikster y. PLoS One. 2011;6(6):e20733. doi: 10.1371/journal.pone.0020733. Epub 2011 Jun 13. PLoS One. 2011. PMID: 21695138 Free PMC article.

8

Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.

Vivante A, Lotan D, Pode-Shakked N, Landau D, Svec P, Nampoothiri S, Verma I, Abu-Libdeh A, Bockenhauer D, Dekel B, Anikster Y. Vivante A, et al. Among authors: anikster y. Nephron Physiol. 2011;119(3):p31-9. doi: 10.1159/000329668. Epub 2011 Aug 18. Nephron Physiol. 2011. PMID: 21849803

9

McArdle disease: a novel mutation in Jewish families from the Caucasus region.

Haimi Cohen Y, Shalva N, Markus-Eidlitz T, Sadeh M, Dabby R, Weintraub Y, Pode-Shakked B, Zeharia A, Anikster Y. Haimi Cohen Y, et al. Among authors: anikster y. Mol Genet Metab. 2012 Jul;106(3):379-81. doi: 10.1016/j.ymgme.2012.04.012. Epub 2012 Apr 23. Mol Genet Metab. 2012. PMID: 22608882

10

Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.

Bar-joseph I, Pras E, Reznik-Wolf H, Marek-Yagel D, Abu-Horvitz A, Dushnitzky M, Goldstein N, Rienstein S, Dekel M, Pode-Shakked B, Zlotnik J, Benarrosh A, Gillery P, Hofliger N, Auray-Blais C, Garnotel R, Anikster Y. Bar-joseph I, et al. Among authors: anikster y. Hum Genet. 2012 Nov;131(11):1805-10. doi: 10.1007/s00439-012-1207-x. Epub 2012 Jul 24. Hum Genet. 2012. PMID: 22825317

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