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Journal Abstract Search

262 related items for PubMed ID: 33530447

  • 1. 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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  • 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 26; 58(9):455-65. PubMed ID: 26206081
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  • 6. Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS.
    Tingaud-Sequeira A, Trimouille A, Marlin S, Lopez E, Berenguer M, Gherbi S, Arveiler B, Lacombe D, Rooryck C.
    Mol Genet Genomic Med; 2020 Oct 26; 8(10):e1375. PubMed ID: 32738032
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  • 8. [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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  • 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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  • 16. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.
    Tasse C, Böhringer S, Fischer S, Lüdecke HJ, Albrecht B, Horn D, Janecke A, Kling R, König R, Lorenz B, Majewski F, Maeyens E, Meinecke P, Mitulla B, Mohr C, Preischl M, Umstadt H, Kohlhase J, Gillessen-Kaesbach G, Wieczorek D.
    Eur J Med Genet; 2005 Jun 26; 48(4):397-411. PubMed ID: 16378924
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  • 17. Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update.
    Beleza-Meireles A, Clayton-Smith J, Saraiva JM, Tassabehji M.
    J Med Genet; 2014 Oct 26; 51(10):635-45. PubMed ID: 25118188
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  • 19. Late Recognition of a Case of Oculo-Auriculo-Vertebral Spectrum.
    El Mansoury J, Mbekeani JN.
    Optom Vis Sci; 2016 Nov 26; 93(11):1449-1453. PubMed ID: 27755235
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  • 20. Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2.
    Digilio MC, McDonald-McGinn DM, Heike C, Catania C, Dallapiccola B, Marino B, Zackai EH.
    Am J Med Genet A; 2009 Dec 26; 149A(12):2860-4. PubMed ID: 19890921
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