169 related articles for article (PubMed ID: 19610085)
1. Syndromes of the first and second pharyngeal arches: A review.
Passos-Bueno MR; Ornelas CC; Fanganiello RD
Am J Med Genet A; 2009 Aug; 149A(8):1853-9. PubMed ID: 19610085
[TBL] [Abstract][Full Text] [Related]
2. Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity.
Masotti C; Oliveira KG; Poerner F; Splendore A; Souza J; Freitas Rda S; Zechi-Ceide R; Guion-Almeida ML; Passos-Bueno MR
Eur J Hum Genet; 2008 Feb; 16(2):145-52. PubMed ID: 18000524
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. Genome-wide scanning reveals complex etiology of oculo-auriculo-vertebral spectrum.
Huang XS; Li X; Tan C; Xiao L; Jiang HO; Zhang SF; Wang DM; Zhang JX
Tohoku J Exp Med; 2010 Dec; 222(4):311-8. PubMed ID: 21150135
[TBL] [Abstract][Full Text] [Related]
6. 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; 22(3):. PubMed ID: 33530447
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacle.
Jones NC; Farlie PG; Minichiello J; Newgreen DF
Hum Mol Genet; 1999 Nov; 8(12):2239-45. PubMed ID: 10545604
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. [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]
11. 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; 182(11):2624-2631. PubMed ID: 32893956
[TBL] [Abstract][Full Text] [Related]
12. Oculo-Auriculo-Vertebral Dysplasia With Craniocervical Instability and Occult Tethered Cord Syndrome. An Addition to the Spectrum? First Case Report and Review of the Literature.
Hansen-Algenstaedt N; Liem M; Khalifah S; Giese A; Gutenberg A
J Am Acad Orthop Surg Glob Res Rev; 2019 Jul; 3(7):e805. PubMed ID: 31579884
[TBL] [Abstract][Full Text] [Related]
13. The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes.
Estandia-Ortega B; Reyna-Fabián ME; Velázquez-Aragón JA; González-Del Angel A; Fernández-Hernández L; Alcántara-Ortigoza MA
Life (Basel); 2022 Oct; 12(11):. PubMed ID: 36362878
[TBL] [Abstract][Full Text] [Related]
14. Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease.
Tingaud-Sequeira A; Trimouille A; Sagardoy T; Lacombe D; Rooryck C
J Med Genet; 2022 May; 59(5):417-427. PubMed ID: 35110414
[TBL] [Abstract][Full Text] [Related]
15. Mutations in
Lopez E; Berenguer M; Tingaud-Sequeira A; Marlin S; Toutain A; Denoyelle F; Picard A; Charron S; Mathieu G; de Belvalet H; Arveiler B; Babin PJ; Lacombe D; Rooryck C
J Med Genet; 2016 Nov; 53(11):752-760. PubMed ID: 27358179
[TBL] [Abstract][Full Text] [Related]
16. Oculoauriculofrontonasal syndrome: case series revealing new bony nasal anomalies in an old syndrome.
Evans KN; Gruss JS; Khanna PC; Cunningham ML; Cox TC; Hing AV
Am J Med Genet A; 2013 Jun; 161A(6):1345-53. PubMed ID: 23637006
[TBL] [Abstract][Full Text] [Related]
17. Oculo-auriculo-vertebral spectrum with radial defects, a bifid condyle and taurodontism: A case report.
Desai V
Dent Med Probl; 2019; 56(4):427-431. PubMed ID: 31689014
[TBL] [Abstract][Full Text] [Related]
18. Mutations and new polymorphic changes in the TCOF1 gene of patients with oculo-auriculo-vertebral spectrum and Treacher-Collins syndrome.
Su PH; Yu JS; Chen JY; Chen SJ; Li SY; Chen HN
Clin Dysmorphol; 2007 Oct; 16(4):261-7. PubMed ID: 17786119
[TBL] [Abstract][Full Text] [Related]
19.
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]
20. 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; 7(10):e00959. PubMed ID: 31469246
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
