Tanya N Eble

Summary

Affiliation: Baylor College of Medicine
Country: USA

Publications

  1. ncbi Non-random X chromosome inactivation in Aicardi syndrome
    Tanya N Eble
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Hum Genet 125:211-6. 2009
  2. ncbi A genome-wide screen for copy number alterations in Aicardi syndrome
    Xiaoling Wang
    Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 149:2113-21. 2009
  3. ncbi Ophthalmologic findings in Aicardi syndrome
    Gary Fruhman
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    J AAPOS 16:238-41. 2012
  4. ncbi Facial and physical features of Aicardi syndrome: infants to teenagers
    V Reid Sutton
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 138:254-8. 2005
  5. ncbi Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia
    Xiaoling Wang
    Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 39:836-8. 2007

Collaborators

  • I B Van den Veyver
  • V Reid Sutton
  • Xiaoling Wang
  • Gary Fruhman
  • Richard A Lewis
  • Nikki Gambhir
  • Ankita Patel
  • Richard Alan Lewis
  • Preethi Gunaratne
  • Rebecca Rosetta
  • J Omar Peraza-Llanes
  • Ying-Chuck Kou
  • Ying Chuck Kou
  • Zhiyin Yu
  • Ping Fang
  • Christina Thaller
  • Bobbi J Hopkins

Detail Information

Publications5

  1. ncbi Non-random X chromosome inactivation in Aicardi syndrome
    Tanya N Eble
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Hum Genet 125:211-6. 2009
    ..Correlations between X-inactivation patterns and individual features were made and we found a significant association between vertebral anomalies and random XCI...
  2. ncbi A genome-wide screen for copy number alterations in Aicardi syndrome
    Xiaoling Wang
    Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 149:2113-21. 2009
    ..We conclude that, in this study population of 38 subjects, Aicardi syndrome is not caused by CNVs detectable with the high-resolution array platform that was used...
  3. ncbi Ophthalmologic findings in Aicardi syndrome
    Gary Fruhman
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    J AAPOS 16:238-41. 2012
    ..This triad has been augmented more recently by central nervous system and ocular findings. The goal of this study was to determine how frequently other ophthalmologic findings are associated with Aicardi syndrome...
  4. ncbi Facial and physical features of Aicardi syndrome: infants to teenagers
    V Reid Sutton
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 138:254-8. 2005
    ....
  5. ncbi Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia
    Xiaoling Wang
    Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 39:836-8. 2007
    ..PORCN encodes the human homolog of Drosophila melanogaster porcupine, an endoplasmic reticulum protein involved in secretion of Wnt proteins...