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7. 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 [TBL] [Abstract][Full Text] [Related]
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10. 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; 8(10):e1375. PubMed ID: 32738032 [TBL] [Abstract][Full Text] [Related]
11. Celse T; Tingaud-Sequeira A; Dieterich K; Siegfried G; Lecaignec C; Bouneau L; Fannemel M; Salaun G; Laffargue F; Martinez G; Satre V; Vieville G; Bidart M; Soussi Zander C; Turesson AC; Splitt M; Reboul D; Chiesa J; Khau Van Kien P; Godin M; Gruchy N; Goel H; Palmer E; Demetriou K; Shalhoub C; Rooryck C; Coutton C J Med Genet; 2023 Jun; 60(6):620-626. PubMed ID: 36368868 [TBL] [Abstract][Full Text] [Related]
12. Oculo-auriculo-vertebral spectrum: going beyond the first and second pharyngeal arch involvement. Davide B; Renzo M; Sara G; Elisa L; Rodica M; Irene T; Alessandro C; Giovanni S; Valentina S; Roberto B; Patrizia T; Alessandro M Neuroradiology; 2017 Mar; 59(3):305-316. PubMed ID: 28251330 [TBL] [Abstract][Full Text] [Related]
13. Expanding the Etiology of Oculo-Auriculo-Vertebral Spectrum: A Novel Interstitial Microdeletion at 1p36. García-Castro M; Martinez-Merino T; Puente N; Riancho JA Int J Mol Sci; 2022 Dec; 24(1):. PubMed ID: 36613479 [TBL] [Abstract][Full Text] [Related]
14. A Novel Truncating Mutation in PAX1 Gene Causes Otofaciocervical Syndrome Without Immunodeficiency. Elbagoury NM; Abdel-Aleem AF; Sharaf-Eldin WE; Ashaat EA; Esswai ML J Mol Neurosci; 2023 Dec; 73(11-12):976-982. PubMed ID: 37924468 [TBL] [Abstract][Full Text] [Related]
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; 29(24):2184-8. PubMed ID: 27093828 [TBL] [Abstract][Full Text] [Related]
17. A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum. Guida V; Sinibaldi L; Pagnoni M; Bernardini L; Loddo S; Margiotti K; Digilio MC; Fadda MT; Dallapiccola B; Iannetti G; Alessandro de L Am J Med Genet A; 2015 Apr; 167A(4):797-801. PubMed ID: 25735547 [TBL] [Abstract][Full Text] [Related]
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19. 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; 51(10):635-45. PubMed ID: 25118188 [TBL] [Abstract][Full Text] [Related]
20. 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; 185(7):2056-2064. PubMed ID: 33880880 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]