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Year Number of Results
2004 1
2009 2
2010 2
2011 1
2016 1
2018 2
2020 3
2023 1
2024 1

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Page 1
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: otto pa. 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.
Novel frameshift variant in gene SALL4 causing Okihiro syndrome.
Alves LU, Perez AB, Alonso LG, Otto PA, Mingroni-Netto RC. Alves LU, et al. Among authors: otto pa. Eur J Med Genet. 2016 Feb;59(2):80-5. doi: 10.1016/j.ejmg.2015.12.015. Epub 2016 Jan 11. Eur J Med Genet. 2016. PMID: 26791099 Free article.
Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype.
Souza LS, Almeida CF, Yamamoto GL, Pavanello RCM, Gurgel-Giannetti J, da Costa SS, Anequini IP, do Carmo SA, Wang JYT, Scliar MO, Castelli EC, Otto PA, Zanoteli E, Vainzof M. Souza LS, et al. Among authors: otto pa. Neurol Genet. 2020 Sep 4;6(5):e513. doi: 10.1212/NXG.0000000000000513. eCollection 2020 Oct. Neurol Genet. 2020. PMID: 33062893 Free PMC article.
The search of a genetic basis for noise-induced hearing loss (NIHL).
Abreu-Silva RS, Rincon D, Horimoto AR, Sguillar AP, Ricardo LA, Kimura L, Batissoco AC, Auricchio MT, Otto PA, Mingroni-Netto RC. Abreu-Silva RS, et al. Among authors: otto pa. Ann Hum Biol. 2011 Mar;38(2):210-8. doi: 10.3109/03014460.2010.513774. Epub 2010 Sep 3. Ann Hum Biol. 2011. PMID: 20812880
Dementia in Fragile X-associated Tremor/Ataxia Syndrome.
Nitrini R, Gonçalves MRR, Capelli LP, Barbosa ER, Porto CS, Amaro E, Otto PA, Vianna-Morgante AM. Nitrini R, et al. Among authors: otto pa. Dement Neuropsychol. 2010 Jan-Mar;4(1):79-83. doi: 10.1590/S1980-57642010DN40100014. Dement Neuropsychol. 2010. PMID: 29213666 Free PMC article.
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.
Tolezano GC, Bastos GC, da Costa SS, Scliar MO, de Souza CFM, Van Der Linden H Jr, Fernandes WLM, Otto PA, Vianna-Morgante AM, Haddad LA, Honjo RS, Yamamoto GL, Kim CA, Rosenberg C, Jorge AAL, Bertola DR, Krepischi ACV. Tolezano GC, et al. Among authors: otto pa. Mol Neurobiol. 2024 Jan 5. doi: 10.1007/s12035-023-03894-8. Online ahead of print. Mol Neurobiol. 2024. PMID: 38180615
13 results