Literature DB >> 16760734

Oculoauriculovertebral spectrum with 5p15.33-pter deletion.

Maria Descartes1.   

Abstract

A report of the sixth case with the oculoauriculovertebral phenotype with limb anomalies and 5p terminal deletion is described.

Entities:  

Mesh：

Year:  2006        PMID： 16760734     DOI： 10.1097/01.mcd.0000204989.46743.ad

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  4 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.  Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).

Authors:  Valentina Guida; Luciano Calzari; Maria Teresa Fadda; Francesca Piceci-Sparascio; Maria Cristina Digilio; Laura Bernardini; Francesco Brancati; Teresa Mattina; Daniela Melis; Francesca Forzano; Silvana Briuglia; Tommaso Mazza; Sebastiano Bianca; Enza Maria Valente; Leila Bagherjad Salehi; Paolo Prontera; Mario Pagnoni; Romano Tenconi; Bruno Dallapiccola; Giorgio Iannetti; Luigi Corsaro; Alessandro De Luca; Davide Gentilini
Journal:  Int J Mol Sci       Date:  2021-01-26       Impact factor: 5.923

3.  A new association of Oculoauriculovertebral spectrum and persistent fifth aortic arch -double lumen aorta: a case report.

Authors:  İsmail Balaban; Meltem Ceyhan Bilgici; Kemal Baysal
Journal:  BMC Pediatr       Date:  2022-02-21       Impact factor: 2.125

4.  A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?

Authors:  Chantal Farra; Khaled Yunis; Nadine Yazbeck; Marianne Majdalani; Lama Charafeddine; Rima Wakim; Johnny Awwad
Journal:  Appl Clin Genet       Date:  2011-07-06
  4 in total

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