Tanya N Eble

Summary

Affiliation: Baylor College of Medicine
Country: USA

Publications

  1. pmc 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. pmc 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. pmc 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 request reprint 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 request reprint 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
  6. doi request reprint A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14
    Lindsay C Burrage
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Med Genet A 161:841-4. 2013

Collaborators

  • I B Van den Veyver
  • Sau W Cheung
  • V Reid Sutton
  • Xiaoling Wang
  • Lindsay C Burrage
  • Gary Fruhman
  • Nikki Gambhir
  • Richard A Lewis
  • Ankita Patel
  • Erin K Roney
  • Luis M Franco
  • Patricia M Hixson
  • Richard Alan Lewis
  • Preethi Gunaratne
  • Zhiyin Yu
  • Ping Fang
  • Rebecca Rosetta
  • J Omar Peraza-Llanes
  • Ying Chuck Kou
  • Christina Thaller
  • Bobbi J Hopkins

Detail Information

Publications6

  1. pmc 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. pmc 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. pmc 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 request reprint 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 request reprint 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...
  6. doi request reprint A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14
    Lindsay C Burrage
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Med Genet A 161:841-4. 2013
    ..422 Mb segment. TBR1, a transcription factor involved in early cortical development, is a strong candidate for the intellectual disability phenotype seen in our patient and in patients with larger deletions in this region of the genome...