Genetic counseling and prenatal diagnosis for mtDNA disease.
作者信息
Chinnery P F, Howell N, Lightowlers R N, Turnbull D M
出版信息
Am J Hum Genet. 1998 Dec;63(6):1908-11. doi: 10.1086/302157.
Abstract
摘要
相似文献
1
Genetic counseling and prenatal diagnosis for mtDNA disease.线粒体DNA疾病的遗传咨询与产前诊断
Am J Hum Genet. 1998 Dec;63(6):1908-11. doi: 10.1086/302157.
2
Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options.线粒体疾病：遗传学、咨询、产前诊断及生殖选择
Am J Med Genet. 2001 Spring;106(1):102-14. doi: 10.1002/ajmg.1380.
3
Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993.针对线粒体DNA 8993位核苷酸突变的遗传咨询与产前诊断
Am J Hum Genet. 1999 Aug;65(2):474-82. doi: 10.1086/302488.
4
Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA.产前排除线粒体DNA中T8993C突变所致的 Leigh 综合征。
Prenat Diagn. 2003 Jan;23(1):31-3. doi: 10.1002/pd.516.
5
Progress in genetic counselling and prenatal diagnosis of maternally inherited mtDNA diseases.母系遗传线粒体DNA疾病的遗传咨询与产前诊断进展
Neuromuscul Disord. 2000 Oct;10(7):484-7. doi: 10.1016/s0960-8966(00)00130-9.
6
Prospects for DNA-based prenatal diagnosis of mitochondrial disorders.基于DNA的线粒体疾病产前诊断前景。
Prenat Diagn. 1996 Dec;16(13):1247-56. doi: 10.1002/(SICI)1097-0223(199612)16:13<1247::AID-PD99>3.0.CO;2-P.
7
Transmission of mitochondrial DNA disorders: possibilities for the future.线粒体DNA疾病的传播：未来的可能性
Lancet. 2006 Jul 1;368(9529):87-9. doi: 10.1016/S0140-6736(06)68972-1.
8
Segregation of mitochondrial DNA (mtDNA) in human oocytes and in animal models of mtDNA disease: clinical implications.线粒体DNA（mtDNA）在人类卵母细胞及线粒体DNA疾病动物模型中的分离：临床意义
Reproduction. 2002 Jun;123(6):751-5. doi: 10.1530/rep.0.1230751.
9
Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism.
J Inherit Metab Dis. 1996;19(4):581-7. doi: 10.1007/BF01799118.
10
Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome.人胚胎胎儿发育过程中m.8993T→G线粒体DNA突变负荷的稳定性对NARP综合征产前诊断的可行性具有重要意义。
J Med Genet. 2007 Oct;44(10):664-9. doi: 10.1136/jmg.2006.048553. Epub 2007 Jun 1.
引用本文的文献
1
Mitochondrial Modification Techniques and Ethical Issues.线粒体修饰技术与伦理问题。
J Clin Med. 2017 Feb 24;6(3):25. doi: 10.3390/jcm6030025.
2
Treatment for mitochondrial disorders.线粒体疾病的治疗。
Cochrane Database Syst Rev. 2012 Apr 18;2012(4):CD004426. doi: 10.1002/14651858.CD004426.pub3.
3
Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype.MELAS 相关的线粒体 DNA m.3243A>G 基因型的自然史。
Neurology. 2011 Nov 29;77(22):1965-71. doi: 10.1212/WNL.0b013e31823a0c7f. Epub 2011 Nov 16.
4
Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system.人类胚胎发生过程中线粒体 DNA 的分离：m.3243A>G 作为模型系统。
Hum Mutat. 2011 Jan;32(1):116-25. doi: 10.1002/humu.21417.
5
The distribution of mitochondrial DNA heteroplasmy due to random genetic drift.由于随机遗传漂变导致的线粒体DNA异质性分布。
Am J Hum Genet. 2008 Nov;83(5):582-93. doi: 10.1016/j.ajhg.2008.10.007. Epub 2008 Oct 30.
6
Clinical mitochondrial genetics.临床线粒体遗传学
J Med Genet. 1999 Jun;36(6):425-36.
Zotero 插件