179 related articles for article (PubMed ID: 31469246)
1. 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]
2. 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]
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. 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]
5. Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.
Guida V; Sparascio FP; Bernardini L; Pancheri F; Melis D; Cocciadiferro D; Pagnoni M; Puzzo M; Goldoni M; Barone C; Hozhabri H; Putotto C; Giuffrida MG; Briuglia S; Palumbo O; Bianca S; Stanzial F; Benedicenti F; Kariminejad A; Forzano F; Baghernajad Salehi L; Mattina T; Brancati F; Castori M; Carella M; Fadda MT; Iannetti G; Dallapiccola B; Digilio MC; Marino B; Tartaglia M; De Luca A
Clin Genet; 2021 Sep; 100(3):268-279. PubMed ID: 33988253
[TBL] [Abstract][Full Text] [Related]
6.
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]
7. 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]
8. 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]
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. 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]
11. 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]
12. 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]
13. A novel de novo mutation in MYT1, the unique OAVS gene identified so far.
Berenguer M; Tingaud-Sequeira A; Colovati M; Melaragno MI; Bragagnolo S; Perez ABA; Arveiler B; Lacombe D; Rooryck C
Eur J Hum Genet; 2017 Sep; 25(9):1083-1086. PubMed ID: 28612832
[TBL] [Abstract][Full Text] [Related]
14. 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; 140(6):933-944. PubMed ID: 33475861
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype.
Colovati ME; Bragagnolo S; Guilherme RS; Dantas AG; Soares MF; Kim CA; Perez AB; Melaragno MI
Cytogenet Genome Res; 2015; 147(2-3):130-4. PubMed ID: 26919065
[TBL] [Abstract][Full Text] [Related]
17. [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]
18. Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study.
Silva AP; Rosa RF; Trevisan P; Dorneles JC; Mesquita CS; Mattos VF; Paskulin GA; Zen PR
Sao Paulo Med J; 2015; 133(3):191-8. PubMed ID: 25337663
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Salivary glands abnormalities in oculo-auriculo-vertebral spectrum.
Brotto D; Manara R; Vio S; Ghiselli S; Cantone E; Mardari R; Toldo I; Stritoni V; Castiglione A; Lovo E; Trevisi P; Bovo R; Martini A
Clin Oral Investig; 2018 Jan; 22(1):395-400. PubMed ID: 28534125
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
