Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descentChai Saechao
HIBM Research Group, Los Angeles, California 91335, USA
Genet Test Mol Biomarkers 14:157-62. 2010
..S615X and p.Y675H). Six of the nine are Caucasian, one patient is Taiwanese, one patient is Asian Indian, and one patient is of European descent. These findings further expand the clinical and genetic spectrum of IBM2...
Serum neural cell adhesion molecule is hyposialylated in hereditary inclusion body myopathyYadira Valles-Ayoub
HIBM Research Group, Reseda, California, USA
Genet Test Mol Biomarkers 16:313-7. 2012
..Additional studies are underway to further validate this finding and to evaluate the specificity, reliability, and robustness of this potential serum biomarker for HIBM...
Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestryYadira Valles-Ayoub
HIBM Research Group, Los Angeles, California, USA
Genet Test Mol Biomarkers 15:395-8. 2011
..Additional studies are required to confirm and further validate the higher frequencies seen in our sample pool, and to determine if people of IJ and even possibly Middle Eastern descent are at a higher risk for WD...
Validation of GNE:p.M712T identification by melting curve analysisYadira Valles-Ayoub
HIBM Research Group, Encino, California, USA
Genet Test 12:101-9. 2008
..This procedure is amenable to automated high-throughput applications and can be extended to both clinical and research applications...
Novel GNE Mutations in Autosomal Recessive Hereditary Inclusion Body Myopathy PatientsDaniel No
1 HIBM Research Group, Reseda, California
Genet Test Mol Biomarkers 17:376-82. 2013
..The pathological significance of this variation with GNE function remains unknown and further studies are needed to identify its connection with HIBM. These findings further expand the clinical and genetic spectrum of HIBM...
MTHFR C677T genotype frequency in patients of Middle Eastern descent as determined by real-time PCR and melting curve analysisArman Haghighatgoo
HIBM Research Group, Encino, California, USA
Genet Test Mol Biomarkers 13:471-6. 2009
..A 10 degrees C gap between T(m) peaks allows for rapid and accurate qualitative identification of genotype...