Suppr超能文献

Clinical utility gene card for: CHARGE syndrome - update 2015.

作者信息

van Ravenswaaij-Arts Conny M A, Blake Kim, Hoefsloot Lies, Verloes Alain

机构信息

University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.

Department of Pediatrics, IWK Health Centre, Dalhouse University, Halifax, Nova Scotia, Canada.

出版信息

Eur J Hum Genet. 2015 Nov;23(11). doi: 10.1038/ejhg.2015.15. Epub 2015 Feb 18.

Abstract
摘要

相似文献

1
Clinical utility gene card for: CHARGE syndrome - update 2015.
Eur J Hum Genet. 2015 Nov;23(11). doi: 10.1038/ejhg.2015.15. Epub 2015 Feb 18.
2
Clinical utility gene card for: CHARGE syndrome.
Eur J Hum Genet. 2011 Sep;19(9). doi: 10.1038/ejhg.2011.45. Epub 2011 Mar 16.
4
CHARGE syndrome and CHD7 gene mutation.
Neurologia. 2011 May;26(4):255. doi: 10.1016/j.nrl.2010.10.011. Epub 2010 Dec 31.
6
Novel frameshift mutation in the CHD7 gene associated with CHARGE syndrome with preaxial polydactyly.
Clin Dysmorphol. 2016 Jul;25(3):98-100. doi: 10.1097/MCD.0000000000000120.
7
CHARGE syndrome: a review.
J Paediatr Child Health. 2014 Jul;50(7):504-11. doi: 10.1111/jpc.12497. Epub 2014 Feb 19.
9
A novel missense variant in CHD7, a rare cause of CHARGE syndrome.
Clin Dysmorphol. 2020 Jul;29(3):158-160. doi: 10.1097/MCD.0000000000000315.

引用本文的文献

1
A case report of CHARGE syndrome caused by a de novo gene mutation.
SAGE Open Med Case Rep. 2024 Nov 30;12:2050313X241293307. doi: 10.1177/2050313X241293307. eCollection 2024.
2
Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism.
J Clin Endocrinol Metab. 2022 Jul 14;107(8):2228-2242. doi: 10.1210/clinem/dgac300.
3
CHARGE syndrome: A case report of two new CDH7 gene mutations.
Saudi J Ophthalmol. 2021 Jul 29;34(4):306-309. doi: 10.4103/1319-4534.322601. eCollection 2020 Oct-Dec.
4
A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis.
Ital J Pediatr. 2020 Apr 23;46(1):53. doi: 10.1186/s13052-020-0806-8.
5
Neonatal presentation of growth hormone deficiency in CHARGE syndrome: the benefit of early treatment on long-term growth.
Arch Endocrinol Metab. 2020 Aug;64(4):487-491. doi: 10.20945/2359-3997000000231. Epub 2020 Apr 6.
6
A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay.
Ann Pediatr Endocrinol Metab. 2019 Mar;24(1):49-54. doi: 10.6065/apem.2019.24.1.49. Epub 2019 Mar 31.
7
Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.
Proc Natl Acad Sci U S A. 2018 Jan 23;115(4):E620-E629. doi: 10.1073/pnas.1715378115. Epub 2018 Jan 8.
8
New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries.
Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):397-406. doi: 10.1002/ajmg.c.31592. Epub 2017 Nov 24.
9
Reproductive endocrine phenotypes relating to CHD7 mutations in humans.
Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):507-515. doi: 10.1002/ajmg.c.31585. Epub 2017 Nov 20.
10
Newly Emerging Feeding Difficulties in a 33-Year-Old Adult With CHARGE Syndrome.
J Clin Med Res. 2016 Jan;8(1):56-8. doi: 10.14740/jocmr2288w. Epub 2015 Dec 3.

本文引用的文献

1
Understanding obstructive sleep apnea in children with CHARGE syndrome.
Int J Pediatr Otorhinolaryngol. 2012 Jul;76(7):947-53. doi: 10.1016/j.ijporl.2012.02.061. Epub 2012 Apr 25.
2
A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.
Hum Mutat. 2012 Aug;33(8):1251-60. doi: 10.1002/humu.22106. Epub 2012 May 11.
3
Mutation update on the CHD7 gene involved in CHARGE syndrome.
Hum Mutat. 2012 Aug;33(8):1149-60. doi: 10.1002/humu.22086. Epub 2012 Apr 16.
4
Botulinum toxin injections into salivary glands to decrease oral secretions in CHARGE syndrome: prospective case study.
Am J Med Genet A. 2012 Apr;158A(4):828-31. doi: 10.1002/ajmg.a.33241. Epub 2012 Mar 14.
5
The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome.
J Clin Endocrinol Metab. 2012 May;97(5):E858-62. doi: 10.1210/jc.2011-2652. Epub 2012 Mar 7.
6
CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.
J Med Genet. 2011 May;48(5):334-42. doi: 10.1136/jmg.2010.087106. Epub 2011 Mar 4.
7
Mutations in the CHD7 gene: the experience of a commercial laboratory.
Genet Test Mol Biomarkers. 2010 Dec;14(6):881-91. doi: 10.1089/gtmb.2010.0101.
8
Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome.
J Pediatr. 2011 Mar;158(3):474-9. doi: 10.1016/j.jpeds.2010.08.032.
9
Prevalence of genetic testing in CHARGE syndrome.
J Genet Couns. 2011 Feb;20(1):49-57. doi: 10.1007/s10897-010-9328-7. Epub 2010 Sep 28.
10
Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype.
Eur J Med Genet. 2009 Jul-Aug;52(4):271-2. doi: 10.1016/j.ejmg.2009.02.005. Epub 2009 Feb 25.

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