Anne Chun Hui Tsai

Summary

Affiliation: University of Colorado
Country: USA

Publications

  1. ncbi request reprint Teebi hypertelorism syndrome: report of a family with previously unrecognized findings
    Anne Chun Hui Tsai
    University of Colorado Health Science Center, Denver, CO 80218, USA
    Am J Med Genet 113:302-6. 2002
  2. ncbi request reprint A child with Angelman syndrome and trisomy 13 findings due to associated paternal UPD 15 and segmental UPD 13
    Anne Chun Hui Tsai
    Department of Pediatrics, Division of Genetics and Metabolism, The Children s Hospital, University of Colorado Health Sciences Center, 1056 E 19th Avenue, B300, Denver, CO 80218, USA
    Am J Med Genet A 126:208-12. 2004
  3. ncbi request reprint De novo isodicentric X chromosome: 46,X,idic(X)(q24), and summary of literature
    Anne Chun Hui Tsai
    Division of Clinical Genetics and Metabolism, The Children s Hospital, University of Colorado School of Medicine, Denver, Colorado 80218, USA
    Am J Med Genet A 140:923-30. 2006
  4. ncbi request reprint Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance
    Anne Chun Hui Tsai
    Division of Clinical Genetics and Metabolism, The Children s Hospital, University of Colorado School of Medicine, Denver, Colorado 80218, USA
    Am J Med Genet A 143:2430-4. 2007
  5. doi request reprint Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome
    Pei Wen Chiang
    Department of Pediatrics, UC Denver DNA Diagnostic Laboratory, UC Denver School of Medicine, Aurora, Colorado, USA
    Am J Med Genet A 149:1463-7. 2009
  6. ncbi request reprint De novo duplication of the short arm of chromosome 12: dup(12)(p13.1p13.3)
    Anne Chun Hui Tsai
    Am J Med Genet A 134:229-30. 2005

Collaborators

Detail Information

Publications6

  1. ncbi request reprint Teebi hypertelorism syndrome: report of a family with previously unrecognized findings
    Anne Chun Hui Tsai
    University of Colorado Health Science Center, Denver, CO 80218, USA
    Am J Med Genet 113:302-6. 2002
    ..We conclude that cardiac defects in Teebi hypertelorism syndrome are not rare findings and that eye colobomas and renal anomalies were previously unrecognized...
  2. ncbi request reprint A child with Angelman syndrome and trisomy 13 findings due to associated paternal UPD 15 and segmental UPD 13
    Anne Chun Hui Tsai
    Department of Pediatrics, Division of Genetics and Metabolism, The Children s Hospital, University of Colorado Health Sciences Center, 1056 E 19th Avenue, B300, Denver, CO 80218, USA
    Am J Med Genet A 126:208-12. 2004
    ..Molecular studies using polymorphic markers on chromosomes 15 and 13 showed paternal uniparental disomy (UPD) 15 and segmental UPD 13...
  3. ncbi request reprint De novo isodicentric X chromosome: 46,X,idic(X)(q24), and summary of literature
    Anne Chun Hui Tsai
    Division of Clinical Genetics and Metabolism, The Children s Hospital, University of Colorado School of Medicine, Denver, Colorado 80218, USA
    Am J Med Genet A 140:923-30. 2006
    ..Molecular and cytogenetic studies were performed to further characterize the isodicentric chromosome X behavior. Literature on isodicentric X chromosomes with various breakpoints on Xq is reviewed and summarized...
  4. ncbi request reprint Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance
    Anne Chun Hui Tsai
    Division of Clinical Genetics and Metabolism, The Children s Hospital, University of Colorado School of Medicine, Denver, Colorado 80218, USA
    Am J Med Genet A 143:2430-4. 2007
    ..The authors would like to emphasize the recognition of a neuropsychiatric presentation in late onset cblC. Ten other reported late onset cases with similar presentations are also reviewed...
  5. doi request reprint Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome
    Pei Wen Chiang
    Department of Pediatrics, UC Denver DNA Diagnostic Laboratory, UC Denver School of Medicine, Aurora, Colorado, USA
    Am J Med Genet A 149:1463-7. 2009
    ..Additional family studies are required to determine how common somatic and/or gonadal mosaicism is present in RSTS patients...
  6. ncbi request reprint De novo duplication of the short arm of chromosome 12: dup(12)(p13.1p13.3)
    Anne Chun Hui Tsai
    Am J Med Genet A 134:229-30. 2005