Diagnosis of Spinocerebellar Ataxias Caused by Trinucleotide Repeat Expansions [0.03%]
由三核苷酸重复扩增引起的脊髓小脑共济失调的诊断
Joanne E Martindale
Joanne E Martindale
Spinocerebellar ataxias (SCAs) are a group of disorders that are both clinically and genetically heterogeneous. They usually demonstrate onset in adulthood, but some forms may have juvenile or infantile onset. There are many different types...
Genetic Risk Scores [0.03%]
遗传风险评分
Jessica N Cooke Bailey,Robert P Igo Jr
Jessica N Cooke Bailey
The generation of genome-wide variation data has become commonplace. However, the potential for interpretation and application of these data for clinical assessment of outcomes of interest, and prediction of disease risk, is currently not f...
Jacob B Hall,William S Bush
Jacob B Hall
Most analyses of genome-wide association data consider each variant independently without considering or adjusting for the genetic background present in the rest of the genome. New approaches to genome analysis use representations of genomi...
COSMIC: High-Resolution Cancer Genetics Using the Catalogue of Somatic Mutations in Cancer [0.03%]
利用肿瘤体细胞突变目录进行高分辨率癌症遗传学研究(COSMIC)
S A Forbes,D Beare,N Bindal et al.
S A Forbes et al.
COSMIC (http://cancer.sanger.ac.uk) is an expert-curated database of somatic mutations in human cancer. Broad and comprehensive in scope, recent releases in 2016 describe over 4 million coding mutations across all human cancer disease types...
Sujata Chakraborty,Matteo Vatta,Linda L Bachinski et al.
Sujata Chakraborty et al.
Myotonic dystrophy types 1 (DM1) and 2 (DM2) are autosomal dominant, microsatellite repeat expansion disorders that affect muscle function. Myotonic dystrophy type 1 is caused by CTG repeat expansion in the 3' UTR region of the DMPK gene. P...
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS) [0.03%]
超高效液相色谱-串联质谱法测定酰基甘氨酸类化合物
Judith A Hobert,Aiping Liu,Marzia Pasquali
Judith A Hobert
Quantitative analysis of urine acylglycines has shown to be a highly sensitive and specific method with proven clinical utility for the diagnosis of several inherited metabolic disorders including: medium chain acyl-CoA dehydrogenase defici...
Samantha L P Schilit,Masato Ohtsuka,Rolen M Quadros et al.
Samantha L P Schilit et al.
Microinjection of DNA expression cassettes into fertilized zygotes has been a standard method for generating transgenic animal models. While efficient, the injected DNA integrates randomly into the genome, leading to potential disruption of...
High-Risk Screening of Fabry Disease: Analysis of Fifteen Urinary Methylated and Non-Methylated Gb3 Isoforms Using Tandem Mass Spectrometry [0.03%]
法布雷病高危筛查：采用串联质谱分析尿液中15种美拉皮素及非美拉皮素Gb3同分异构体
Mona Abaoui,Michel Boutin,Pamela Lavoie et al.
Mona Abaoui et al.
Fabry disease is a multisystemic, X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to α-galactosidase A deficiency and resulting in the accumulation of glycosphingolipids in different tissues and biological ...
Johan T den Dunnen
Johan T den Dunnen
Consistent and unambiguous description of sequence variants is essential to report and exchange information on the analysis of a genome, in particular in DNA diagnostics. The HGVS nomenclature-recommendations for the description of sequence...
Efficient Generation of Hypothalamic Neurons from Human Pluripotent Stem Cells [0.03%]
高效的人多能干细胞向下丘脑神经元分化的研究进展
Liheng Wang,Dieter Egli,Rudolph L Leibel
Liheng Wang
The hypothalamus comprises neuronal clusters that are essential for body weight regulation and other physiological functions. Insights into the complex cellular physiology of this region of the brain are critical to understanding the pathog...