Literature DB >> 20635336

Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum.

Caroline Rooryck1, Noui Souakri, Dorothée Cailley, Julie Bouron, Cyril Goizet, Marie-Ange Delrue, Sandrine Marlin, Feclad Didier Lacombe, Benoît Arveiler.   

Abstract

Oculoauriculovertebral spectrum (OAVS) is a clinically and genetically heterogeneous congenital disorder. We performed high density oligonucleotide array-CGH on 86 OAVS patients and identified in 11 patients 12 novel genomic rearrangements (4 deletions and 8 duplications) ranging in size from 2.7 kb to 2.3 Mb. We discuss the potential pathogenic role of these chromosomal aberrations, and describe new candidate regions for OAVS.

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Year:  2010        PMID： 20635336     DOI： 10.1002/ajmg.a.33491

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


  13 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.  A novel de novo mutation in MYT1, the unique OAVS gene identified so far.

Authors:  Marie Berenguer; Angele Tingaud-Sequeira; Mileny Colovati; Maria I Melaragno; Silvia Bragagnolo; Ana B A Perez; Benoit Arveiler; Didier Lacombe; Caroline Rooryck
Journal:  Eur J Hum Genet       Date:  2017-06-14       Impact factor: 4.246

3.  Clinical, genetic and environmental factors associated with congenital vertebral malformations.

Authors:  P F Giampietro; C L Raggio; R D Blank; C McCarty; U Broeckel; M A Pickart
Journal:  Mol Syndromol       Date:  2013-02

4.  Interstitial deletion 14q31.1q31.3 transmitted from a mother to her daughter, both with features of hemifacial microsomia.

Authors:  S Gimelli; C Cuoco; P Ronchetto; G Gimelli; E Tassano
Journal:  J Appl Genet       Date:  2013-05-05       Impact factor: 3.240

5.  Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.

Authors:  Ingeborg Barisic; Ljubica Odak; Maria Loane; Ester Garne; Diana Wellesley; Elisa Calzolari; Helen Dolk; Marie-Claude Addor; Larraitz Arriola; Jorieke Bergman; Sebastiano Bianca; Berenice Doray; Babak Khoshnood; Kari Klungsoyr; Bob McDonnell; Anna Pierini; Judith Rankin; Anke Rissmann; Catherine Rounding; Annette Queisser-Luft; Gioacchino Scarano; David Tucker
Journal:  Eur J Hum Genet       Date:  2014-01-08       Impact factor: 4.246

6.  Goldenhar syndrome with right circumflex aortic arch, severe coarctation and vascular ring in a twin pregnancy.

Authors:  Elaheh Malakan Rad
Journal:  Ann Pediatr Cardiol       Date:  2014-09

7.  Caudal Regression and Encephalocele: Rare Manifestations of Expanded Goldenhar Complex.

Authors:  Gabriella D'Angelo; Lucia Marseglia; Salvatore Aversa; Sara Manti; Caterina Cuppari; Mariaconcetta Cutrupi; Carmelo Salpietro; Eloisa Gitto
Journal:  Case Rep Pediatr       Date:  2017-09-12

8.  Whole-Exome Sequencing Reveals Rare Germline Mutations in Patients With Hemifacial Microsomia.

Authors:  Xiaojun Chen; Fatao Liu; Zin Mar Aung; Yan Zhang; Gang Chai
Journal:  Front Genet       Date:  2021-05-17       Impact factor: 4.599

Review 9.  Genetic aspects of congenital and idiopathic scoliosis.

Authors:  Philip F Giampietro
Journal:  Scientifica (Cairo)       Date:  2012-12-31

10.  OTX2 duplication is implicated in hemifacial microsomia.

Authors:  Dina Zielinski; Barak Markus; Mona Sheikh; Melissa Gymrek; Clement Chu; Marta Zaks; Balaji Srinivasan; Jodi D Hoffman; Dror Aizenbud; Yaniv Erlich
Journal:  PLoS One       Date:  2014-05-09       Impact factor: 3.240
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