Suppr超能文献

Eight years' experience of direct molecular testing for myotonic dystrophy in Wales.

作者信息

Fokstuen S, Myring J, Meredith L, Ravine D, Harper P S

出版信息

J Med Genet. 2001 Dec;38(12):E42. doi: 10.1136/jmg.38.12.e42.

Abstract
摘要

相似文献

1
Eight years' experience of direct molecular testing for myotonic dystrophy in Wales.
J Med Genet. 2001 Dec;38(12):E42. doi: 10.1136/jmg.38.12.e42.
2
Presymptomatic testing in myotonic dystrophy: genetic counselling approaches.
J Med Genet. 2001 Dec;38(12):846-50. doi: 10.1136/jmg.38.12.846.
3
Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy.
J Med Genet. 2001 Dec;38(12):850-2. doi: 10.1136/jmg.38.12.850.
5
Instability in the normal CTG repeat range at the myotonic dystrophy locus.
J Med Genet. 1998 Sep;35(9):791. doi: 10.1136/jmg.35.9.791.
6
Technical standards and guidelines for myotonic dystrophy type 1 testing.
Genet Med. 2009 Jul;11(7):552-5. doi: 10.1097/GIM.0b013e3181abce0f.
7
Molecular and clinical study of two myotonic dystrophy homozygotes.
J Med Genet. 2001 Nov;38(11):E40. doi: 10.1136/jmg.38.11.e40.
8
Preimplantation genetic diagnosis for myotonic dystrophy type 1 in the UK.
Neuromuscul Disord. 2008 Feb;18(2):131-6. doi: 10.1016/j.nmd.2007.10.002. Epub 2007 Nov 28.
9
Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.
J Mol Diagn. 2013 Jul;15(4):518-25. doi: 10.1016/j.jmoldx.2013.03.008. Epub 2013 May 13.
10
The myotonic dystrophies: diagnosis and management.
J Neurol Neurosurg Psychiatry. 2010 Apr;81(4):358-67. doi: 10.1136/jnnp.2008.158261. Epub 2010 Feb 22.

引用本文的文献

1
Understanding the experience of myotonic dystrophy. Mixed method study.
J Genet Couns. 2015 Feb;24(1):169-78. doi: 10.1007/s10897-014-9752-1. Epub 2014 Aug 16.
2
Distribution of CTG repeats at the DMPK gene in myotonic dystrophy patients and healthy individuals from the Mexican population.
Mol Biol Rep. 2011 Feb;38(2):1341-6. doi: 10.1007/s11033-010-0235-7. Epub 2010 Jul 16.

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