Affiliation: National Institutes of Health
- Heme carrier protein 1 (HCP1) genetic variants in the Hemochromatosis and Iron Overload Screening (HEIRS) Study participantsXinjing Wang
Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN 55455, USA
Blood Cells Mol Dis 42:150-4. 2009..Five HEIRS Study participants had non-synonymous, coding region HCP1 variants. Each of these five had TS above the 84th gender- and ethnic/racial group-specific percentile (TS percentiles: 84.7, 91.3, 97.9, 99.5, and 99.9)...
- Chronic rhinosinusitisXinjing Wang
National Eye Institute, National Institutes of Health, Bethesda, MD 20892 1860, USA
Adv Otorhinolaryngol 70:114-21. 2011..Systemic conditions may have an impact on the incidence, severity, prognosis, or treatment of patients with CRS. Evaluation for underlying conditions may help the otolaryngologist manage the symptoms of CRS and optimize therapy...
- DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnosticsDimitre R Simeonov
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
Hum Mutat 34:827-35. 2013..Finally, we review the TYR p.R402Q temperature-sensitive variant and confirm its association with cases of albinism with only one identifiable TYR mutation...
- High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophyJin Song
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA
Invest Ophthalmol Vis Sci 52:9053-60. 2011..This study was conducted to develop and apply a microarray-based, high-throughput resequencing system to detect sequence alterations in genes related to inherited RD...
- A novel polymorphism in the FMR1 gene: implications for clinical testing of fragile X syndromeBharat Thyagarajan
Department of Laboratory Medicine and Pathology, University of Minnesota, 420 Delaware St SE, Minneapolis, MN 55455, USA
Arch Pathol Lab Med 132:95-8. 2008..This novel restriction site could potentially mimic a partial deletion of the FMR1 gene on Southern blot analysis and thus represents a possible pitfall in the diagnosis of fragile X syndrome...
- Systematic analysis of interference due to stutter in estimating chimerism following hematopoietic cell transplantationBharat Thyagarajan
Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota, USA
J Clin Lab Anal 23:308-13. 2009..Difference from expected chimerism values in the vWa and D13S317 markers were similar before and after adjustment of stutter. Adjustment for stutter from shared alleles may improve accuracy of estimated chimerism...