Literature DB >> 24311469

Non-overlapping 22q11.2 microdeletions in patients with oculo-auriculo-vertebral spectrum.

Pollyanna Almeida Costa Dos Santos1, Silviene Fabiana de Oliveira, Erika L Freitas, Heloisa Pires Neto Safatle, Carla Rosenberg, Iris Ferrari, Juliana Forte Mazzeu.   

Abstract

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Year:  2013        PMID： 24311469     DOI： 10.1002/ajmg.a.36231

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  3 in total

Review 1.  Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebral Spectrum: A Systematic Review.

Authors:  Andressa Barreto Glaeser; Bruna Lixinski Diniz; Desirée Deconte; Andressa Schneiders Santos; Rafael Fabiano Machado Rosa; Paulo Ricardo Gazzola Zen
Journal:  J Pediatr Genet       Date:  2020-05-27

2.  Ectopic external auditory canal and ossicular formation in the oculo-auriculo-vertebral spectrum.

Authors:  Nucharin Supakul; Stephen F Kralik; Chang Y Ho
Journal:  Pediatr Radiol       Date:  2014-12-06

3.  Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS.

Authors:  Angèle Tingaud-Sequeira; Aurélien Trimouille; Sandrine Marlin; Estelle Lopez; Marie Berenguer; Souad Gherbi; Benoit Arveiler; Didier Lacombe; Caroline Rooryck
Journal:  Mol Genet Genomic Med       Date:  2020-08-01       Impact factor: 2.183
  3 in total

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