Anikster Y - Search Results

1

Hereditary orotic aciduria identified by newborn screening.

Staretz-Chacham O, Damseh NS, Daas S, Abu Salah N, Anikster Y, Barel O, Dumin E, Fattal-Valevski A, Falik-Zaccai TC, Hershkovitz E, Josefsberg S, Landau Y, Lerman-Sagie T, Mandel H, Rock R, Rostami N, Saraf-Levy T, Shaul Lotan N, Spiegel R, Tal G, Ulanovsky I, Wilnai Y, Korman SH, Almashanu S. Staretz-Chacham O, et al. Among authors: anikster y. Front Genet. 2023 Mar 14;14:1135267. doi: 10.3389/fgene.2023.1135267. eCollection 2023. Front Genet. 2023. PMID: 36999056 Free PMC article.

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

A new genetic isolate of gray platelet syndrome (GPS): clinical, cellular, and hematologic characteristics.

Falik-Zaccai TC, Anikster Y, Rivera CE, Horne MK 3rd, Schliamser L, Phornphutkul C, Attias D, Hyman T, White JG, Gahl WA. Falik-Zaccai TC, et al. Among authors: anikster y. Mol Genet Metab. 2001 Nov;74(3):303-13. doi: 10.1006/mgme.2001.3247. Mol Genet Metab. 2001. PMID: 11708859

4

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

5

A safety trial of high dose glyceryl triacetate for Canavan disease.

Segel R, Anikster Y, Zevin S, Steinberg A, Gahl WA, Fisher D, Staretz-Chacham O, Zimran A, Altarescu G. Segel R, et al. Among authors: anikster y. Mol Genet Metab. 2011 Jul;103(3):203-6. doi: 10.1016/j.ymgme.2011.03.012. Epub 2011 Mar 15. Mol Genet Metab. 2011. PMID: 21474353 Clinical Trial.

6

A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis.

Zivony-Elboum Y, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R, Falik-Zaccai TC. Zivony-Elboum Y, et al. Among authors: anikster y. J Med Genet. 2012 Jul;49(7):462-72. doi: 10.1136/jmedgenet-2012-100742. Epub 2012 Jun 20. J Med Genet. 2012. PMID: 22717650

7

Glycogen storage disease type III in Israel: presentation and long-term outcome.

Hershkovitz E, Forschner I, Mandel H, Spiegel R, Lerman-Sagie T, Anikster Y, Zeharia A, Moses S. Hershkovitz E, et al. Among authors: anikster y. Pediatr Endocrinol Rev. 2014 Mar;11(3):318-23. Pediatr Endocrinol Rev. 2014. PMID: 24716397 Review.

8

The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome.

Sofer S, Schweiger A, Blumkin L, Yahalom G, Anikster Y, Lev D, Ben-Zeev B, Lerman-Sagie T, Hassin-Baer S. Sofer S, et al. Among authors: anikster y. Am J Med Genet B Neuropsychiatr Genet. 2015 Apr;168B(3):197-203. doi: 10.1002/ajmg.b.32296. Epub 2015 Feb 5. Am J Med Genet B Neuropsychiatr Genet. 2015. PMID: 25657044

9

SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.

Heimer G, Marek-Yagel D, Eyal E, Barel O, Oz Levi D, Hoffmann C, Ruzzo EK, Ganelin-Cohen E, Lancet D, Pras E, Rechavi G, Nissenkorn A, Anikster Y, Goldstein DB, Ben Zeev B. Heimer G, et al. Among authors: anikster y. Clin Genet. 2015 Oct;88(4):327-35. doi: 10.1111/cge.12637. Epub 2015 Jul 28. Clin Genet. 2015. PMID: 26138499

10

Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep.

Carmi N, Lev D, Leshinsky-Silver E, Anikster Y, Blumkin L, Kivity S, Lerman-Sagie T, Zerem A. Carmi N, et al. Among authors: anikster y. Eur J Paediatr Neurol. 2015 Nov;19(6):733-6. doi: 10.1016/j.ejpn.2015.06.006. Epub 2015 Jul 9. Eur J Paediatr Neurol. 2015. PMID: 26190011

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