基因符号：CHD7。疾病：CHARGE综合征。 - Suppr

Suppr

超能文献

Gene symbol: CHD7. Disease: CHARGE syndrome.

作者信息

Ellison Jay

机构信息

Mayo Clinic, Medical Genetics, 200 First St SW, Rochester, MN 55905, USA.

出版信息

Hum Genet. 2008 Oct;124(3):323.

PMID:18846688

Abstract

摘要

相似文献

Gene symbol: CHD7. Disease: CHARGE syndrome.

Hum Genet. 2008 Oct;124(3):323.

Immunological abnormalities in CHARGE syndrome.

Eur J Med Genet. 2007 Sep-Oct;50(5):338-45. doi: 10.1016/j.ejmg.2007.05.002. Epub 2007 May 27.

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.

J Pediatr. 2006 Mar;148(3):410-4. doi: 10.1016/j.jpeds.2005.10.044.

Gene symbol: NSD1. Disease: Sotos syndrome.

Hum Genet. 2008 Oct;124(3):311.

CHARGE syndrome: an update.

Eur J Hum Genet. 2007 Apr;15(4):389-99. doi: 10.1038/sj.ejhg.5201778. Epub 2007 Feb 14.

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.

Hum Mol Genet. 2010 Jul 15;19(14):2858-66. doi: 10.1093/hmg/ddq189. Epub 2010 May 7.

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

Nat Genet. 2004 Sep;36(9):955-7. doi: 10.1038/ng1407. Epub 2004 Aug 8.

Expanding the "E" in CHARGE.

Am J Med Genet A. 2008 Jul 15;146A(14):1890-2. doi: 10.1002/ajmg.a.32376.

New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene.

Ophthalmic Genet. 2008 Jun;29(2):79-84. doi: 10.1080/13816810801918391.

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

J Med Genet. 2006 Apr;43(4):306-14. doi: 10.1136/jmg.2005.036061. Epub 2005 Sep 9.

引用本文的文献

New Face for Chromatin-Related Mesenchymal Modulator: n-CHD9 Localizes to Nucleoli and Interacts With Ribosomal Genes.

J Cell Physiol. 2015 Sep;230(9):2270-80. doi: 10.1002/jcp.24960.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

相似文献

Gene symbol: CHD7. Disease: CHARGE syndrome.

Hum Genet. 2008 Oct;124(3):323.

Immunological abnormalities in CHARGE syndrome.

Eur J Med Genet. 2007 Sep-Oct;50(5):338-45. doi: 10.1016/j.ejmg.2007.05.002. Epub 2007 May 27.

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.

J Pediatr. 2006 Mar;148(3):410-4. doi: 10.1016/j.jpeds.2005.10.044.

Gene symbol: NSD1. Disease: Sotos syndrome.

Hum Genet. 2008 Oct;124(3):311.

CHARGE syndrome: an update.

Eur J Hum Genet. 2007 Apr;15(4):389-99. doi: 10.1038/sj.ejhg.5201778. Epub 2007 Feb 14.

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.

Hum Mol Genet. 2010 Jul 15;19(14):2858-66. doi: 10.1093/hmg/ddq189. Epub 2010 May 7.

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

Nat Genet. 2004 Sep;36(9):955-7. doi: 10.1038/ng1407. Epub 2004 Aug 8.

Expanding the "E" in CHARGE.

Am J Med Genet A. 2008 Jul 15;146A(14):1890-2. doi: 10.1002/ajmg.a.32376.

New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene.

Ophthalmic Genet. 2008 Jun;29(2):79-84. doi: 10.1080/13816810801918391.

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

J Med Genet. 2006 Apr;43(4):306-14. doi: 10.1136/jmg.2005.036061. Epub 2005 Sep 9.

引用本文的文献

New Face for Chromatin-Related Mesenchymal Modulator: n-CHD9 Localizes to Nucleoli and Interacts With Ribosomal Genes.

J Cell Physiol. 2015 Sep;230(9):2270-80. doi: 10.1002/jcp.24960.