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Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.
Klopocki E, Lohan S, Doelken SC, Stricker S, Ockeloen CW, Soares Thiele de Aguiar R, Lezirovitz K, Mingroni Netto RC, Jamsheer A, Shah H, Kurth I, Habenicht R, Warman M, Devriendt K, Kordass U, Hempel M, Rajab A, Mäkitie O, Naveed M, Radhakrishna U, Antonarakis SE, Horn D, Mundlos S. Klopocki E, et al. Among authors: lezirovitz k. J Med Genet. 2012 Feb;49(2):119-25. doi: 10.1136/jmedgenet-2011-100409. Epub 2011 Dec 6. J Med Genet. 2012. PMID: 22147889
A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects.
Santos SC, Pardono E, Ferreira da Costa MI, de Melo AN, Graciani Z, de Albuquerque e Souza AC, Lezirovitz K, Thiele-Aguiar RS, Mingroni-Netto RC, Opitz JM, Kok F, Otto PA. Santos SC, et al. Among authors: lezirovitz k. Am J Med Genet A. 2008 Dec 15;146A(24):3126-31. doi: 10.1002/ajmg.a.32580. Am J Med Genet A. 2008. PMID: 19012338
A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21.
Lezirovitz K, Braga MC, Thiele-Aguiar RS, Auricchio MT, Pearson PL, Otto PA, Mingroni-Netto RC. Lezirovitz K, et al. Clin Genet. 2009 May;75(5):490-3. doi: 10.1111/j.1399-0004.2008.01130.x. Epub 2009 Jan 21. Clin Genet. 2009. PMID: 19159392 No abstract available.
Novel OTOF mutations in Brazilian patients with auditory neuropathy.
Romanos J, Kimura L, Fávero ML, Izarra FA, de Mello Auricchio MT, Batissoco AC, Lezirovitz K, Abreu-Silva RS, Mingroni-Netto RC. Romanos J, et al. Among authors: lezirovitz k. J Hum Genet. 2009 Jul;54(7):382-5. doi: 10.1038/jhg.2009.45. Epub 2009 May 22. J Hum Genet. 2009. PMID: 19461658
44 results