Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements-Reference-Cited by-同舟云学术

Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

Published:2012-08 Issue:2 Volume:91 Page:252-264
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Froyen Guy,Belet Stefanie,Martinez Francisco,Santos-Rebouças Cíntia Barros,Declercq Matthias,Verbeeck Jelle,Donckers Lene,Berland Siren,Mayo Sonia,Rosello Monica,Pimentel Márcia Mattos Gonçalves,Fintelman-Rodrigues Natalia,Hovland Randi,Rodrigues dos Santos Suely,Raymond F. Lucy,Bose Tulika,Corbett Mark A.,Sheffield Leslie,van Ravenswaaij-Arts Conny M.A.,Dijkhuizen Trijnie,Coutton Charles,Satre Veronique,Siu Victoria,Marynen Peter

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference48 articles.

1. Genetics of intellectual disability;Ropers;Curr. Opin. Genet. Dev.,2008

2. The genetic landscape of intellectual disability arising from chromosome X;Gécz;Trends Genet.,2009

3. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males;Van Esch;Am. J. Hum. Genet.,2005

4. Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome;Meins;J. Med. Genet.,2005

5. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching;Carvalho;Hum. Mol. Genet.,2009

Cited by 74 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Sphingosine kinase 2 regulates protein ubiquitination networks in neurons;Molecular and Cellular Neuroscience;2024-09

2. Tom1p ubiquitin ligase structure, interaction with Spt6p, and function in maintaining normal transcript levels and the stability of chromatin in promoters;2024-07-08

3. Methods of Detection and Mechanisms of Origin of Complex Structural Genome Variations;Methods in Molecular Biology;2024

4. Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disability;Clinical Genetics;2023-10-29

5. Dynamic X-chromosomal reactivation enhances female brain resilience;2023-06-21