Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes-Reference-Cited by-同舟云学术

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

Published:2015-01-09 Issue:2 Volume:125 Page:636-651
ISSN:0021-9738
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:J. Clin. Invest.

Author:

Yuan Bo,Pehlivan Davut,Karaca Ender,Patel Nisha,Charng Wu-Lin,Gambin Tomasz,Gonzaga-Jauregui Claudia,Sutton V. Reid,Yesil Gozde,Bozdogan Sevcan Tug,Tos Tulay,Koparir Asuman,Koparir Erkan,Beck Christine R.,Gu Shen,Aslan Huseyin,Yuregir Ozge Ozalp,Al Rubeaan Khalid,Alnaqeb Dhekra,Alshammari Muneera J.,Bayram Yavuz,Atik Mehmed M.,Aydin Hatip,Geckinli B. Bilge,Seven Mehmet,Ulucan Hakan,Fenercioglu Elif,Ozen Mustafa,Jhangiani Shalini,Muzny Donna M.,Boerwinkle Eric,Tuysuz Beyhan,Alkuraya Fowzan S.,Gibbs Richard A.,Lupski James R.

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Reference64 articles.

1. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

2. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

3. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

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