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Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.
Basel-Vanagaite L, Smirin-Yosef P, Essakow JL, Tzur S, Lagovsky I, Maya I, Pasmanik-Chor M, Yeheskel A, Konen O, Orenstein N, Weisz Hubshman M, Drasinover V, Magal N, Peretz Amit G, Zalzstein Y, Zeharia A, Shohat M, Straussberg R, Monté D, Salmon-Divon M, Behar DM. Basel-Vanagaite L, et al. Among authors: drasinover v. Hum Genet. 2015 Jun;134(6):577-87. doi: 10.1007/s00439-015-1541-x. Epub 2015 Mar 20. Hum Genet. 2015. PMID: 25792360 Clinical Trial.
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: drasinover v. 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.
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
Basel-Vanagaite L, Muncher L, Straussberg R, Pasmanik-Chor M, Yahav M, Rainshtein L, Walsh CA, Magal N, Taub E, Drasinover V, Shalev H, Attia R, Rechavi G, Simon AJ, Shohat M. Basel-Vanagaite L, et al. Among authors: drasinover v. Ann Neurol. 2006 Aug;60(2):214-22. doi: 10.1002/ana.20902. Ann Neurol. 2006. PMID: 16786527
Amniotic trisomy 11 mosaicism--is it a benign finding?
Basel-Vanagaite L, Davidov B, Friedman J, Yeshaya Y, Magal N, Drasinover V, Shohat M. Basel-Vanagaite L, et al. Among authors: drasinover v. Prenat Diagn. 2006 Sep;26(9):778-81. doi: 10.1002/pd.1501. Prenat Diagn. 2006. PMID: 16810710
Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.
Baris HN, Barnes-Kedar I, Toledano H, Halpern M, Hershkovitz D, Lossos A, Lerer I, Peretz T, Kariv R, Cohen S, Half EE, Magal N, Drasinover V, Wimmer K, Goldberg Y, Bercovich D, Levi Z. Baris HN, et al. Among authors: drasinover v. Pediatr Blood Cancer. 2016 Mar;63(3):418-27. doi: 10.1002/pbc.25818. Epub 2015 Nov 6. Pediatr Blood Cancer. 2016. PMID: 26544533
12 results