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PUBMED FOR HANDHELDS

Journal Abstract Search


172 related items for PubMed ID: 36368868

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  • 2. Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.
    Beleza-Meireles A, Hart R, Clayton-Smith J, Oliveira R, Reis CF, Venâncio M, Ramos F, Sá J, Ramos L, Cunha E, Pires LM, Carreira IM, Scholey R, Wright R, Urquhart JE, Briggs TA, Kerr B, Kingston H, Metcalfe K, Donnai D, Newman WG, Saraiva JM, Tassabehji M.
    Eur J Med Genet; 2015 Sep; 58(9):455-65. PubMed ID: 26206081
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  • 5. Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).
    Guida V, Calzari L, Fadda MT, Piceci-Sparascio F, Digilio MC, Bernardini L, Brancati F, Mattina T, Melis D, Forzano F, Briuglia S, Mazza T, Bianca S, Valente EM, Salehi LB, Prontera P, Pagnoni M, Tenconi R, Dallapiccola B, Iannetti G, Corsaro L, De Luca A, Gentilini D.
    Int J Mol Sci; 2021 Jan 26; 22(3):. PubMed ID: 33530447
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  • 7. Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication.
    Ballesta-Martínez MJ, López-González V, Dulcet LA, Rodríguez-Santiago B, Garcia-Miñaúr S, Guillen-Navarro E.
    Am J Med Genet A; 2013 Aug 26; 161A(8):2030-5. PubMed ID: 23794319
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  • 9. A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum.
    Tingaud-Sequeira A, Trimouille A, Salaria M, Stapleton R, Claverol S, Plaisant C, Bonneu M, Lopez E, Arveiler B, Lacombe D, Rooryck C.
    Hum Genet; 2021 Jun 26; 140(6):933-944. PubMed ID: 33475861
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  • 14. Novel MYT1 variants expose the complexity of oculo-auriculo-vertebral spectrum genetic mechanisms.
    Zamariolli M, Burssed B, Moysés-Oliveira M, Colovati M, Bellucco FTDS, Dos Santos LC, Alvarez Perez AB, Bragagnolo S, Melaragno MI.
    Am J Med Genet A; 2021 Jul 26; 185(7):2056-2064. PubMed ID: 33880880
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  • 16. [The etiology research progress of oculo-auriculo-vertebral spectrum].
    Wang P, Fan Y, Chen X.
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2015 Dec 26; 29(24):2184-8. PubMed ID: 27093828
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  • 17. Candidate genes of oculo-auriculo-vertebral spectrum in 22q region: A systematic review.
    Glaeser AB, Santos AS, Diniz BL, Deconte D, Rosa RFM, Zen PRG.
    Am J Med Genet A; 2020 Nov 26; 182(11):2624-2631. PubMed ID: 32893956
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  • 19. Rare single-nucleotide variants in oculo-auriculo-vertebral spectrum (OAVS).
    Zamariolli M, Colovati M, Moysés-Oliveira M, Nunes N, Caires Dos Santos L, Alvarez Perez AB, Bragagnolo S, Melaragno MI.
    Mol Genet Genomic Med; 2019 Oct 26; 7(10):e00959. PubMed ID: 31469246
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