Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy-Reference-Cited by-同舟云学术

Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy

Published:2015-03-05 Issue:1 Volume:89 Page:68-73
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Leroy C.¹,Jacquemont M.-L.²,Doray B.³,Lamblin D.⁴,Cormier-Daire V.⁵⁶,Philippe A.⁵⁶⁷,Nusbaum S.¹,Patrat C.⁸,Steffann J.⁵,Colleaux L.⁶⁷,Vekemans M.¹⁶,Romana S.¹⁶,Turleau C.¹,Malan V.¹⁶⁷

Affiliation:

1. Service de Cytogénétique; Hôpital Necker-Enfants Malades; Paris France

2. Service de Néonatologie; Centre Hospitalier Universitaire de la Réunion; Saint-Pierre France

3. Service de Génétique; Centre Hospitalier Universitaire de La Réunion, Hôpital Félix Guyon; Saint-Denis France

4. Fondation Père Favron; CAMSP; Saint-Louis France

5. Service de Génétique; Hôpital Necker-Enfants Malades; Paris France

6. Sorbonne Paris Cité; Université Paris Descartes; Paris France

7. Institut IMAGINE; INSERM UMR_S1163, Hôpital Necker-Enfants Malades; Paris France

8. Laboratoire de Biologie De la Reproduction; Groupe Hospitalier Bichat-Claude Bernard; Paris France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12567/fullpdf

Reference21 articles.

1. Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes;Froyen;Hum Mutat,2007

2. Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis;Honda;J Hum Genet,2010

3. Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability;Whibley;Am J Hum Genet,2010

4. Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements;Froyen;Am J Hum Genet,2012

5. Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation;Froyen;Am J Hum Genet,2008

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