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Expanded Phenotypic Definition Identifies Hundreds of Potential Causative Genes for Leukodystrophies and Leukoencephalopathies

机译：扩增的表型定义鉴定了数百种潜在的白细胞病症和白血病的致病基因

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摘要

The genes responsible for genetic white matter disorders (GWMD; leukodystrophies and leukoencephalopathies) are incompletely known. Our goal was to revise the list of genes considered to cause GWMD. We considered a GWMD to consist of any genetic disease causing T2 signal white matter changes in magnetic resonance images.

机译：负责遗传白质疾病的基因（GWMD;白科医疗和白细胞病）都不完全了解。我们的目标是修改被认为导致GWMD的基因清单。我们认为GWMD由任何遗传疾病组成，导致磁共振图像中的T2信号白质变化。

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期刊名称 Child Neurology Open
作者
Veronica M. Urbik; Marilyn Schmiedel; Haille Soderholm; Joshua L. Bonkowsky;
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作者单位

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年(卷),期 2020(-1),-1
年度 2020
页码 -1
总页数 10
原文格式 PDF
正文语种
中图分类神经科学;
关键词

机译：leukodystrophy;基因;白细胞病;分类;诊断;

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专利

1. Expanded Phenotypic Definition Identifies Hundreds of Potential Causative Genes for Leukodystrophies and Leukoencephalopathies [J] . Veronica M. Urbik, Marilyn Schmiedel, Haille Soderholm, Child Neurology Open . 2020,第a期

机译：扩增的表型定义鉴定了数百种潜在的白细胞和白血病致病基因
2. Author’s Response to “Classifying Hypomyelination: A Critical (white) Matter” From Perrier et al.: regarding Expanded Phenotypic Definition Identifies Hundreds of Potential Causative Genes for Leukodystrophies and Leukoencephalopathies [J] . Veronica M. Urbik, Marilyn Schmiedel, Haille Soderholm, Child Neurology Open . 2020,第a期

机译：作者对“分类低性髓鞘定位：来自Perrier等的”批判性（白色）物“：关于扩展的表型定义，鉴定了数百种潜在的白科医疗和白血病的致病基因
3. Genome‐wide analysis identifies potentially causative genes explaining the phenotypic variability in Pinzirita sheep [J] . Mastrangelo Salvatore, Criscione Andrea, Sottile Gianluca, Animal Genetics . 2019,第2期

机译：基因组 - 范围分析识别出潜在的致病基因，解释了Pinzirita绵羊的表型变异性
4. Using phenotypic and phylogenetic analyses to identify coliform bacteria obtained from 11 different EPA approved coliform methods in USA [C] . Ya Zhang, Bonnie Coates, Mark W. LeChevallier, 2012 water quality technology conference amp; exposition : The premier conference for water quality professionals around the world . 2012

机译：使用表型和系统发育分析来鉴定从美国11种不同的EPA批准大肠菌方法中获得的大肠菌
5. Organellar signaling expands plant phenotypic variation and increases the potential for breeding the epigenome. [D] . De la Rosa Santamaria, Roberto. 2012

机译：细胞器信号传导扩大了植物表型变异并增加了繁殖表观基因组的潜力。
6. Author’s Response to Classifying Hypomyelination: A Critical (white) Matter From Perrier et al.: regarding Expanded Phenotypic Definition Identifies Hundreds of Potential Causative Genes for Leukodystrophies and Leukoencephalopathies [O] . Veronica M. Urbik, Marilyn Schmiedel, Haille Soderholm, 2020

机译：作者对分类低质髓中异性：临界（白色）的反应来自Perrier等：关于扩展的表型定义鉴定了数百种潜在的白科医疗致病基因和白细胞病
7. Author’s Response to “Classifying Hypomyelination: A Critical (white) Matter” From Perrier et al.: regarding Expanded Phenotypic Definition Identifies Hundreds of Potential Causative Genes for Leukodystrophies and Leukoencephalopathies [O] . Veronica M. Urbik, Marilyn Schmiedel, Haille Soderholm, 2020

机译：作者对“分类低质髓中异性：临界（白色）”的反应来自Perrier等：关于扩展的表型定义，鉴定了数百种潜在的白科医疗致病基因和白细胞病

Expanded Phenotypic Definition Identifies Hundreds of Potential Causative Genes for Leukodystrophies and Leukoencephalopathies

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