Yadira Valles-Ayoub

Summary

Publications

  1. doi request reprint Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent
    Chai Saechao
    HIBM Research Group, Los Angeles, California 91335, USA
    Genet Test Mol Biomarkers 14:157-62. 2010
  2. doi request reprint Serum neural cell adhesion molecule is hyposialylated in hereditary inclusion body myopathy
    Yadira Valles-Ayoub
    HIBM Research Group, Reseda, California, USA
    Genet Test Mol Biomarkers 16:313-7. 2012
  3. doi request reprint Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry
    Yadira Valles-Ayoub
    HIBM Research Group, Los Angeles, California, USA
    Genet Test Mol Biomarkers 15:395-8. 2011
  4. doi request reprint Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients
    Daniel No
    HIBM Research Group, Reseda, California 91335, USA
    Genet Test Mol Biomarkers 17:376-82. 2013
  5. doi request reprint Validation of GNE:p.M712T identification by melting curve analysis
    Yadira Valles-Ayoub
    HIBM Research Group, Encino, California, USA
    Genet Test 12:101-9. 2008
  6. doi request reprint MTHFR C677T genotype frequency in patients of Middle Eastern descent as determined by real-time PCR and melting curve analysis
    Arman Haghighatgoo
    HIBM Research Group, Encino, California, USA
    Genet Test Mol Biomarkers 13:471-6. 2009

Collaborators

  • Arman Haghighatgoo
  • Chai Saechao
  • Daniel No
  • Rosangela Carbajo
  • Tahseen Mozaffar
  • Daniel Darvish
  • Zeshan Khokher
  • Mark Andrew Tarnopolsky
  • Beth Stein
  • Lucia Sandoval
  • Marvin Pietruszka
  • Babak Darvish

Detail Information

Publications6

  1. doi request reprint Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent
    Chai 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...
  2. doi request reprint Serum neural cell adhesion molecule is hyposialylated in hereditary inclusion body myopathy
    Yadira 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...
  3. doi request reprint Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry
    Yadira 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...
  4. doi request reprint Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients
    Daniel No
    HIBM Research Group, Reseda, California 91335, USA
    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...
  5. doi request reprint Validation of GNE:p.M712T identification by melting curve analysis
    Yadira 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...
  6. doi request reprint MTHFR C677T genotype frequency in patients of Middle Eastern descent as determined by real-time PCR and melting curve analysis
    Arman 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...