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A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel.
Lahat H, Pras E, Olender T, Avidan N, Ben-Asher E, Man O, Levy-Nissenbaum E, Khoury A, Lorber A, Goldman B, Lancet D, Eldar M. Lahat H, et al. Among authors: olender t. Am J Hum Genet. 2001 Dec;69(6):1378-84. doi: 10.1086/324565. Epub 2001 Oct 25. Am J Hum Genet. 2001. PMID: 11704930 Free PMC article.
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.
Raas-Rothschild A, Bargal R, Goldman O, Ben-Asher E, Groener JE, Toutain A, Stemmer E, Ben-Neriah Z, Flusser H, Beemer FA, Penttinen M, Olender T, Rein AJ, Bach G, Zeigler M. Raas-Rothschild A, et al. Among authors: olender t. J Med Genet. 2004 Apr;41(4):e52. doi: 10.1136/jmg.2003.015222. J Med Genet. 2004. PMID: 15060128 Free PMC article. No abstract available.
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S. Eisenberg I, et al. Among authors: olender t. Nat Genet. 2001 Sep;29(1):83-7. doi: 10.1038/ng718. Nat Genet. 2001. PMID: 11528398
A role for TENM1 mutations in congenital general anosmia.
Alkelai A, Olender T, Haffner-Krausz R, Tsoory MM, Boyko V, Tatarskyy P, Gross-Isseroff R, Milgrom R, Shushan S, Blau I, Cohn E, Beeri R, Levy-Lahad E, Pras E, Lancet D. Alkelai A, et al. Among authors: olender t. Clin Genet. 2016 Sep;90(3):211-9. doi: 10.1111/cge.12782. Epub 2016 May 31. Clin Genet. 2016. PMID: 27040985
The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation.
Basel-Vanagaite L, Attia R, Yahav M, Ferland RJ, Anteki L, Walsh CA, Olender T, Straussberg R, Magal N, Taub E, Drasinover V, Alkelai A, Bercovich D, Rechavi G, Simon AJ, Shohat M. Basel-Vanagaite L, et al. Among authors: olender t. J Med Genet. 2006 Mar;43(3):203-10. doi: 10.1136/jmg.2005.035709. Epub 2005 Jul 20. J Med Genet. 2006. PMID: 16033914 Free PMC article.
83 results