Testing for fragile X gene mutations throughout the life span.
作者信息
Hagerman Randi J, Hagerman Paul J
机构信息
M.I.N.D. Institute, and Department of Pediatrics, School of Medicine, University of California, Davis, USA.
出版信息
JAMA. 2008 Nov 26;300(20):2419-21. doi: 10.1001/jama.2008.684.
Abstract
摘要
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Testing for fragile X gene mutations throughout the life span.终生检测脆性X基因突变。
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本文引用的文献
1
Advances in the treatment of fragile X syndrome.脆性X综合征治疗进展
Pediatrics. 2009 Jan;123(1):378-90. doi: 10.1542/peds.2008-0317.
2
Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems.脆性X相关震颤共济失调综合征（FXTAS）及相关神经问题的治疗。
Clin Interv Aging. 2008;3(2):251-62. doi: 10.2147/cia.s1794.
3
Mood and anxiety disorders in females with the FMR1 premutation.携带脆性X智力低下基因1前突变的女性的情绪和焦虑障碍
Am J Med Genet B Neuropsychiatr Genet. 2009 Jan 5;150B(1):130-9. doi: 10.1002/ajmg.b.30786.
4
Expanded clinical phenotype of women with the FMR1 premutation.FMR1前突变女性的临床表型扩展
Am J Med Genet A. 2008 Apr 15;146A(8):1009-16. doi: 10.1002/ajmg.a.32060.
5
A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations.一种基于聚合酶链反应的快速筛查方法，用于鉴定新生儿和高危人群中脆性X（FMR1）基因的所有扩增等位基因。
J Mol Diagn. 2008 Jan;10(1):43-9. doi: 10.2353/jmoldx.2008.070073. Epub 2007 Dec 28.
6
Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome.脆性X相关震颤/共济失调综合征中的睾丸和垂体包涵体形成。
J Urol. 2007 Apr;177(4):1434-7. doi: 10.1016/j.juro.2006.11.097.
7
Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X.脆性X综合征中自闭症行为连续体的分子和认知预测因素。
Neurosci Biobehav Rev. 2007;31(3):315-26. doi: 10.1016/j.neubiorev.2006.09.007. Epub 2006 Nov 9.
8
Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation.脆性X前突变男孩中的自闭症谱系障碍和注意力缺陷多动障碍
J Dev Behav Pediatr. 2006 Apr;27(2 Suppl):S137-44. doi: 10.1097/00004703-200604002-00012.
9
Protein composition of the intranuclear inclusions of FXTAS.脆性X相关震颤/共济失调综合征（FXTAS）核内包涵体的蛋白质组成
Brain. 2006 Jan;129(Pt 1):256-71. doi: 10.1093/brain/awh650. Epub 2005 Oct 24.
10
Therapeutic implications of the mGluR theory of fragile X mental retardation.脆性X智力障碍的代谢型谷氨酸受体理论的治疗意义
Genes Brain Behav. 2005 Aug;4(6):393-8. doi: 10.1111/j.1601-183X.2005.00135.x.
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