Dr Gina Gómez, from the National Autistic Society, said research into fragile X syndrome could help understanding of certain aspects of autism.
全国自闭症协会的Gina Gómez博士认为对于脆性X综合症的研究有助于理解自闭症的某些方面。
But up to 20 percent of women with fragile X pre-mutations undergo premature menopause.
不过大约有20%的带有脆弱X前突变基因的妇女要发生过早绝经。
They were aggressive, slow learners, and kept convulsing in seizures-classic signs of Fragile X syndrome.
他们表现的很具有进攻性,学习缓慢,并在发作时持续抽搐——脆性X综合征的典型迹象。
They also indicate the need for more study into the fragile X mental retardation protein's function itself.
它们同时也暗示着还需要对脆性X智力低下蛋白的功能本身进行更多的研究。
Fragile X neurons lack the ability to mute messages from the mGluR5 receptor, leading to an overproduction of protein.
脆性X神经没有能力将从mGluR5受体收到的信息静音,从而导致生产过剩的蛋白质。
If so, there could be a familial genetic disorder called fragile X, in which a certain portion of the X chromosome is abnormal.
如果有,那么你很可能有脆弱X基因的家族遗传病。也就是X基因的一部分是异常的。
Objective:To find out the significance of fragile X mental retardation on diagnostic etiology of inherent mental retardation(MR).
目的:探讨脆性X综合征对先天智力低下儿童病因学诊断的重要性。
Objective: to establish an efficient method to detect fragile X chromosome syndrome (FraX) by optimizing PCR amplifying condition.
目的:优化PCR扩增条件,建立一种有效检测脆性X综合征的方法。
Bear's drug, called STX107, inhibits the receptors to pare back the overproduction of proteins associated with Fragile X to a normal range.
贝尔的药物,称为STX107,可以抑制受体,削减与脆性X染色体相关联的蛋白质的生产过剩到一个正常的范围内。
Conclusion the parents with mentally retarded students knew little about the fragile X syndrome, but whose acceptability of screening was high.
结论培智学校学生家长对脆性X综合征的了解很少,但对此病的高危筛查接受性高。
Dr Gina gomez DE la Cuesta, from the National Autistic Society, said research into fragile X syndrome could help understanding of certain aspects of autism.
全国孤独症协会的GinagomezdelaCuesta博士认为对于脆性X综合症的研究有助于加深对孤独症的了解。
The PCR-Sequence gel silver staining was more rapid, immediate, simple and economy, which suits to the colony screening fragile X syndrome on a large scale.
运用PCR -序列分析胶银染法快速、直接、简便、实用,适合脆性X综合征的大规模群体筛查。
Objective to investigate neural pruning or neural plasticity of mouse somatosensory cortical barrel in the absence of fragile X mental retardation protein (FMRP).
目的研究脆性X智力低下蛋白(fmrp)缺失对感觉皮质功能柱神经可塑性的影响。
The probands of pedigrees E and F of the mother were found with suspicions fragile X chromosome, being confirmed as the non-fragile X pedigrees by the molecular genetic test.
家系先证者及其母亲,F家系先证者发现可疑脆性X染色体,分子遗传学检查证实为非脆性X综合征家系。
We hope and expect that, like other developmental disorders such as Fragile X syndrome, the use of mouse models will lead directly to clinical trials that can benefit patients.
我们希望并期待其他发育障碍,如x染色体脆弱症。老鼠试验能够帮助进行对有益于病人的临床试验。
Results of phenotypical, patho-psychological and molecular-genetic analysis of the 53 probands with clinical features of the fragile X syndrome and 10 female carriers are presented.
结果表型,病理心理和分子遗传学分析的53个渊源与临床特征的脆性X综合征和10名女性运营商提出。
Fragile X syndrome, a single genetic mutation on the X chromosome, is the most common source of inherited mental impairment, affecting one in every 4,000 boys and one in every 6,000 girls.
脆性X综合征,一个X染色体上的基因突变,是遗传性智力障碍最常见的来源,每4000名男孩和每6000名女孩中就有一名儿童患有该症。
Further research of this method will introduce a more simple and rapid method for detecting male patients with fragile X syndrome. This method may be used for general population screening.
这一方法的进一步研究,将使脆性X男性患者的诊断方法更加简单、快速,有可能用于大规模群体筛查。
Fragile X syndrome, a single genetic mutation on the X chromosome, is the most common source of inherited mental impairment, affecting one in every 4, 000 boys and one in every 6, 000 girls.
脆性X综合征,一个X染色体上的基因突变,是遗传性智力障碍最常见的来源,每4000名男孩和每6000名女孩中就有一名儿童患有该症。
Fragile X syndrome, a single genetic mutation on the X chromosome, is the most common source of inherited mental impairment, affecting one in every 4, 000 boys and one in every 6, 000 girls.
脆性X综合征,一个X染色体上的基因突变,是遗传性智力障碍最常见的来源,每4000名男孩和每6000名女孩中就有一名儿童患有该症。
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