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Page 1
Waardenburg syndrome: clinical differentiation between types I and II.
Pardono E, van Bever Y, van den Ende J, Havrenne PC, Iughetti P, Maestrelli SR, Costa F O, Richieri-Costa A, Frota-Pessoa O, Otto PA. Pardono E, et al. Am J Med Genet A. 2003 Mar 15;117A(3):223-35. doi: 10.1002/ajmg.a.10193. Am J Med Genet A. 2003. PMID: 12599185
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: pardono e. 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
Waardenburg syndrome: Novel mutations in a large Brazilian sample.
Bocángel MAP, Melo US, Alves LU, Pardono E, Lourenço NCV, Marcolino HVC, Otto PA, Mingroni-Netto RC. Bocángel MAP, et al. Among authors: pardono e. Eur J Med Genet. 2018 Jun;61(6):348-354. doi: 10.1016/j.ejmg.2018.01.012. Epub 2018 Jan 31. Eur J Med Genet. 2018. PMID: 29407415 Free article.
The structure of first-cousin marriages in Brazil.
Otto PA, Lemes RB, Farias AA, Weller M, Lima SOA, Albino VA, Marques-Alves YK, Pardono E, Bocangel MAP, Santos S. Otto PA, et al. Among authors: pardono e. Sci Rep. 2020 Sep 23;10(1):15573. doi: 10.1038/s41598-020-72366-z. Sci Rep. 2020. PMID: 32968083 Free PMC article.
Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss.
Batissoco AC, Pedroso-Campos V, Pardono E, Sampaio-Silva J, Sonoda CY, Vieira-Silva GA, da Silva de Oliveira Longati EU, Mariano D, Hoshino ACH, Tsuji RK, Jesus-Santos R, Abath-Neto O, Bento RF, Oiticica J, Lezirovitz K. Batissoco AC, et al. Among authors: pardono e. Hum Genet. 2022 Apr;141(3-4):519-538. doi: 10.1007/s00439-021-02372-2. Epub 2021 Oct 1. Hum Genet. 2022. PMID: 34599368
20 results