Leena Gole

Summary

Publications

  1. ncbi Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis
    L A Gole
    Department of Obstetrics and Gynaecology, National University of Singapore, 5 Lower Kent Ridge Road, Singapore 119074
    Singapore Med J 49:349-51. 2008
  2. ncbi Prenatal detection of isochromosome 21 by QF-PCR. A comparison between FISH and traditional karyotyping
    Leena Gole
    Department of Obstetrics and Gynaecology, National University Hospital, National University of Singapore, Singapore
    Fetal Diagn Ther 24:47-50. 2008
  3. ncbi Refining quantitative fluorescent polymerase chain reaction for prenatal detection of X chromosomal anomalies in the major Southeast Asian populations
    L Gole
    Department of Obstetrics and Gynaecology, Yong Loo Lin School of Medicine, National University of Singapore, and Department of Laboratory Medicine, National University Hospital Service Block, 5 Lower Kent Ridge Road, Singapore 119074
    Singapore Med J 49:1025-8. 2008
  4. ncbi Same-day prenatal diagnosis of common chromosomal aneuploidies using microfluidics-fluorescence in situ hybridization
    Sherry S Y Ho
    Department of Laboratory Medicine, National University Hospital, Singapore, Singapore
    Prenat Diagn 32:321-8. 2012
  5. ncbi Characterization of a small supernumerary marker chromosome as r(8) at prenatal diagnosis by MFISH
    L A Gole
    Department of Obstetrics and Gynaecology, National University Hospital, National University of Singapore, Singapore
    Prenat Diagn 25:73-8. 2005
  6. ncbi Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12)
    Leena Gole
    Department of Obstetrics and Gynaecology, National University of Singapore, Singapore
    Am J Med Genet A 125:177-80. 2004
  7. ncbi A phenotypically normal female with pseudodicentric X: correlation for statural genes
    L A Gole
    Department of Obstetrics and Gynaecology, National University Hospital, Singapore
    Singapore Med J 42:428-9. 2001

Collaborators

Detail Information

Publications7

  1. ncbi Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis
    L A Gole
    Department of Obstetrics and Gynaecology, National University of Singapore, 5 Lower Kent Ridge Road, Singapore 119074
    Singapore Med J 49:349-51. 2008
    ....
  2. ncbi Prenatal detection of isochromosome 21 by QF-PCR. A comparison between FISH and traditional karyotyping
    Leena Gole
    Department of Obstetrics and Gynaecology, National University Hospital, National University of Singapore, Singapore
    Fetal Diagn Ther 24:47-50. 2008
    ..To compare rapid aneuploidy diagnostic tests with traditional karyotyping in the prenatal detection of Down syndrome due to isochromosome 21...
  3. ncbi Refining quantitative fluorescent polymerase chain reaction for prenatal detection of X chromosomal anomalies in the major Southeast Asian populations
    L Gole
    Department of Obstetrics and Gynaecology, Yong Loo Lin School of Medicine, National University of Singapore, and Department of Laboratory Medicine, National University Hospital Service Block, 5 Lower Kent Ridge Road, Singapore 119074
    Singapore Med J 49:1025-8. 2008
    ..This study aimed to refine the current quantitative fluorescent polymerase chain reaction (QF-PCR) screen to detect X chromosome anomalies for prenatal diagnosis in the major Southeast-Asian populations...
  4. ncbi Same-day prenatal diagnosis of common chromosomal aneuploidies using microfluidics-fluorescence in situ hybridization
    Sherry S Y Ho
    Department of Laboratory Medicine, National University Hospital, Singapore, Singapore
    Prenat Diagn 32:321-8. 2012
    ..Microfluidic FISH, using 20-fold less than the recommended amount of probe, is a cost-effective method to diagnose common fetal aneuploidies within the same day of fetal sampling...
  5. ncbi Characterization of a small supernumerary marker chromosome as r(8) at prenatal diagnosis by MFISH
    L A Gole
    Department of Obstetrics and Gynaecology, National University Hospital, National University of Singapore, Singapore
    Prenat Diagn 25:73-8. 2005
    ..To identify the mosaic marker chromosome detected in amniotic fluid cells of a 26-year-old woman, with raised triple test values and an ultrasound scan, which showed a fetus with echogenic bowels...
  6. ncbi Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12)
    Leena Gole
    Department of Obstetrics and Gynaecology, National University of Singapore, Singapore
    Am J Med Genet A 125:177-80. 2004
    ..The relationship of the translocation to the clinical phenotypes is discussed...
  7. ncbi A phenotypically normal female with pseudodicentric X: correlation for statural genes
    L A Gole
    Department of Obstetrics and Gynaecology, National University Hospital, Singapore
    Singapore Med J 42:428-9. 2001
    ..Both parents and a younger sister had normal karyotypes. FISH with X centromeric probes was a useful test for confirmation of the two centromeres and also in ruling out the presence of a monosomic or normal diploid X cell line...