Hans-Ulrich Klein,Martin Schäfer
Hans-Ulrich Klein
The R package epigenomix has been designed to detect differentially transcribed gene isoforms that, in addition, exhibit altered histone modifications at their respective genomic loci. The package provides methods to map histone ChIP-seq pr...
Robert P Igo Jr,Jessica N Cooke Bailey,Jane Romm et al.
Robert P Igo Jr et al.
The Illumina HumanExome BeadChip and other exome-based genotyping arrays offer inexpensive genotyping of some 240,000 mostly nonsynonymous coding variants across the human genome. The HumanExome chip, with its highly non-uniform distributio...
Tandem Mass Spectrometry Quantitation of Lyso-Gb3 and Six Related Analogs in Plasma for Fabry Disease Patients [0.03%]
用于法布雷病患者血浆中Lyso-Gb3及相关六种类似物定量的串联质谱方法
Michel Boutin,Pamela Lavoie,Mona Abaoui et al.
Michel Boutin et al.
Fabry disease is an X-linked lysosomal storage disorder, caused by a deficit in α-galactosidase A enzyme activity, leading to the storage of sphingolipids such as globotriaosylsphingosine (lyso-Gb3 ), globotriaosylceramide (Gb3 ), and gala...
Fabry Disease Biomarkers: Analysis of Urinary Lyso-Gb3 and Seven Related Analogs Using Tandem Mass Spectrometry [0.03%]
采用串联质谱分析法测定法布雷病生物标志物——七种类Gb3的尿液中酶切产物量化分析方法
Pamela Lavoie,Michel Boutin,Mona Abaoui et al.
Pamela Lavoie et al.
Fabry disease is an X-linked lysosomal storage disorder caused by the absence or reduction of the enzyme α-galactosidase A activity. Currently, globotriaosylsphingosine (lyso-Gb3 ) and globotriaosylceramide (Gb3 ) are used as biomarkers to...
Christopher S Rogers
Christopher S Rogers
Animal models are an important resource for studying human diseases. Genetically engineered mice are the most commonly used species and have made significant contributions to our understanding of basic biology, disease mechanisms, and drug ...
Anne B S Giersch,Frederick R Bieber,Adrian M Dubuc et al.
Anne B S Giersch et al.
This appendix, developed by the staff at the Center for Advanced Molecular Diagnostics in the Department of Pathology at the Brigham and Women's Hospital, includes a comprehensive list of current "macros" or standardized statements used to ...
Steven M Harrison,Erin R Riggs,Donna R Maglott et al.
Steven M Harrison et al.
ClinVar is a freely accessible, public archive of reports of the relationships among genomic variants and phenotypes. To facilitate evaluation of the clinical significance of each variant, ClinVar aggregates submissions of the same variant,...
Patrick R Gonzales,Andrew J Carroll,Bruce R Korf
Patrick R Gonzales
Chromosome analysis is one of the first approaches to genetic testing and remains a key component of genetic analysis of constitutional and somatic genetic disorders. Numerical or unbalanced structural chromosome abnormalities usually lead ...
Libin Yuan,J Daniel Sharer
Libin Yuan
Homocysteine is a nonessential, sulfur-containing amino acid involved in one-carbon (folate) metabolism. A number of inherited and acquired conditions cause increased accumulation of this metabolite in blood (homocysteinemia) and other biof...
J Daniel Sharer
J Daniel Sharer
Biochemical genetics focuses on the pathophysiology, diagnosis, and treatment of inherited metabolic disorders. While individually rare, the combined incidence of these diseases makes them a significant source of morbidity and mortality, pa...