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Phenotype variability in Hajdu-Cheney syndrome.
Regev M, Pode-Shakked B, Jacobson JM, Raas-Rothschild A, Goldstein DB, Anikster Y. Regev M, et al. Eur J Med Genet. 2019 Jan;62(1):35-38. doi: 10.1016/j.ejmg.2018.04.015. Epub 2018 Apr 23. Eur J Med Genet. 2019. PMID: 29698804
A dominant negative heterozygous G87R mutation in the zinc transporter, ZnT-2 (SLC30A2), results in transient neonatal zinc deficiency.
Lasry I, Seo YA, Ityel H, Shalva N, Pode-Shakked B, Glaser F, Berman B, Berezovsky I, Goncearenco A, Klar A, Levy J, Anikster Y, Kelleher SL, Assaraf YG. Lasry I, et al. J Biol Chem. 2012 Aug 24;287(35):29348-61. doi: 10.1074/jbc.M112.368159. Epub 2012 Jun 25. J Biol Chem. 2012. PMID: 22733820 Free PMC article. Clinical Trial.
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. Hum Genet. 2012 Nov;131(11):1805-10. doi: 10.1007/s00439-012-1207-x. Epub 2012 Jul 24. Hum Genet. 2012. PMID: 22825317
Bitterness of glucose/galactose: novel mutations in the SLC5A1 gene.
Pode-Shakked B, Reish O, Aktuglu-Zeybek C, Kesselman D, Dekel B, Bujanover Y, Anikster Y. Pode-Shakked B, et al. J Pediatr Gastroenterol Nutr. 2014 Jan;58(1):57-60. doi: 10.1097/MPG.0000000000000114. J Pediatr Gastroenterol Nutr. 2014. PMID: 24048166
Costeff syndrome: clinical features and natural history.
Yahalom G, Anikster Y, Huna-Baron R, Hoffmann C, Blumkin L, Lev D, Tsabari R, Nitsan Z, Lerman SF, Ben-Zeev B, Pode-Shakked B, Sofer S, Schweiger A, Lerman-Sagie T, Hassin-Baer S. Yahalom G, et al. J Neurol. 2014 Dec;261(12):2275-82. doi: 10.1007/s00415-014-7481-x. Epub 2014 Sep 9. J Neurol. 2014. PMID: 25201222
77 results