Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 4 (of 4 Records) |
Query Trace: Oculo-auriculo-vertebral Spectrum[original query] |
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A novel de novo mutation in MYT1, the unique OAVS gene identified so far. European journal of human genetics : EJHG 2017 Jun . Berenguer Marie, Tingaud-Sequeira Angele, Colovati Mileny, Melaragno Maria I, Bragagnolo Silvia, Perez Ana B A, Arveiler Benoit, Lacombe Didier, Rooryck Caroli |
Candidate genes of oculo-auriculo-vertebral spectrum in 22q region: A systematic review. American journal of medical genetics. Part A 2020 9 182 (11): 2624-2631. Glaeser Andressa Barreto, Santos Andressa Schneiders, Diniz Bruna Lixinski, Deconte Desireé, Rosa Rafael Fabiano Machado, Zen Paulo Ricardo Gazzo |
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects. Clinical genetics 2021 May . Guida Valentina, Sparascio Francesca Piceci, Bernardini Laura, Pancheri Francesco, Melis Daniela, Cocciadiferro Dario, Pagnoni Mario, Puzzo Marianna, Goldoni Marina, Barone Chiara, Hozhabri Hossein, Putotto Carolina, Giuffrida Maria Grazia, Briuglia Silvana, Palumbo Orazio, Bianca Sebastiano, Stanzial Franco, Benedicenti Francesco, Kariminejad Ariana, Forzano Francesca, Baghernajad Salehi Leila, Mattina Teresa, Brancati Francesco, Castori Marco, Carella Massimo, Fadda Maria Teresa, Iannetti Giorgio, Dallapiccola Bruno, Digilio Maria Cristina, Marino Bruno, Tartaglia Marco, De Luca Alessand |
The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes. Life (Basel, Switzerland) 2022 11 12 (11): . Estandia-Ortega Bernardette, Reyna-Fabián Miriam Erandi, Velázquez-Aragón José Antonio, González-Del Angel Ariadna, Fernández-Hernández Liliana, Alcántara-Ortigoza Miguel Ang |
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