Anikster Y - Search Results

1

Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.

Pode-Shakked B, Barash H, Ziv L, Gripp KW, Flex E, Barel O, Carvalho KS, Scavina M, Chillemi G, Niceta M, Eyal E, Kol N, Ben-Zeev B, Bar-Yosef O, Marek-Yagel D, Bertini E, Duker AL, Anikster Y, Tartaglia M, Raas-Rothschild A. Pode-Shakked B, et al. Among authors: anikster y. Clin Genet. 2017 May;91(5):725-738. doi: 10.1111/cge.12914. Epub 2016 Dec 16. Clin Genet. 2017. PMID: 27807845

2

Glutaric aciduria type I in the Arab and Jewish communities in Israel.

Anikster Y, Shaag A, Joseph A, Mandel H, Ben-Zeev B, Christensen E, Elpeleg ON. Anikster Y, et al. Am J Hum Genet. 1996 Nov;59(5):1012-8. Am J Hum Genet. 1996. PMID: 8900228 Free PMC article.

3

Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews.

Ben-Zeev B, Levy-Nissenbaum E, Lahat H, Anikster Y, Shinar Y, Brand N, Gross-Tzur V, MacGregor D, Sidi R, Kleta R, Frydman M, Pras E. Ben-Zeev B, et al. Among authors: anikster y. Hum Genet. 2002 Aug;111(2):214-8. doi: 10.1007/s00439-002-0770-y. Epub 2002 Jul 16. Hum Genet. 2002. PMID: 12189496

4

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

5

Unusual presentation of familial glucocorticoid deficiency with a novel MRAP mutation.

Modan-Moses D, Ben-Zeev B, Hoffmann C, Falik-Zaccai TC, Bental YA, Pinhas-Hamiel O, Anikster Y. Modan-Moses D, et al. Among authors: anikster y. J Clin Endocrinol Metab. 2006 Oct;91(10):3713-7. doi: 10.1210/jc.2006-0687. Epub 2006 Jul 25. J Clin Endocrinol Metab. 2006. PMID: 16868047

6

Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency.

Hoffmann C, Ben-Zeev B, Anikster Y, Nissenkorn A, Brand N, Kuint J, Kushnir T. Hoffmann C, et al. Among authors: anikster y. J Child Neurol. 2007 Oct;22(10):1214-21. doi: 10.1177/0883073807306260. J Child Neurol. 2007. PMID: 17940249

7

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

8

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.

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

205 results

Search Page

Filters