S Yu

Summary

Affiliation: University of Adelaide
Country: Australia

Publications

  1. ncbi Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication
    S Yu
    Department of Genetic Medicine, Women s and Children s Hospital, North Adelaide, South Australia, Australia
    Clin Genet 73:160-4. 2008
  2. ncbi Frequency of truly cryptic subtelomere abnormalities--a study of 534 patients and literature review
    S Yu
    Department of Genetic Medicine, Women s and Children s Hospital, North Adelaide, Australia
    Clin Genet 68:436-41. 2005
  3. ncbi X-linked myotubular myopathy in a family with three adult survivors
    S Yu
    Department of Laboratory Genetics, Women s and Children s Hospital, North Adelaide, Adelaide, Australia
    Clin Genet 64:148-52. 2003
  4. ncbi Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat
    S Yu
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, Australia
    Cell 88:367-74. 1997
  5. ncbi Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease
    K Narahara
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, Adelaide, Australia
    J Med Genet 34:213-6. 1997
  6. ncbi FRAXE and mental retardation
    J C Mulley
    Centre for Medical Genetics, Cytogenetics and Molecular Genetics, Women s and Children s Hospital, Adelaide, Australia
    J Med Genet 32:162-9. 1995
  7. ncbi A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A
    J C Mulley
    Department of Genetic Medicine, Women s and Children s Hospital, North Adelaide, South Australia, 5006 Australia
    Neurology 67:1094-5. 2006
  8. ncbi Characterization of a neocentric supernumerary marker chromosome originating from the Xp distal region by FISH, CENP-C staining, and array CGH
    S Yu
    Dr John T Macdonald Foundation Center for Medical Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA
    Cytogenet Genome Res 116:141-5. 2007
  9. ncbi X-linked myotubular myopathy: mutation R69C identified in a family with multiple neonatal deaths
    K Cox
    Clin Genet 67:441-2. 2005
  10. ncbi Sequence analysis shows that ribgrass mosaic virus Shanghai isolate (RMV-Sh) is closely related to Youcai mosaic virus
    H Zhu
    Department of Microbiology, Fudan University, Shanghai, PR China
    Arch Virol 146:1231-8. 2001

Collaborators

Detail Information

Publications15

  1. ncbi Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication
    S Yu
    Department of Genetic Medicine, Women s and Children s Hospital, North Adelaide, South Australia, Australia
    Clin Genet 73:160-4. 2008
    ..Review at 2 months of age revealed normal growth and development. Our findings broaden the understanding of 22q11.2 duplication syndrome and demonstrate that MLPA is sensitive for detection and sizing of 22q11.2 microduplications...
  2. ncbi Frequency of truly cryptic subtelomere abnormalities--a study of 534 patients and literature review
    S Yu
    Department of Genetic Medicine, Women s and Children s Hospital, North Adelaide, Australia
    Clin Genet 68:436-41. 2005
    ..We estimate the frequency of truly cryptic subtelomere abnormality to be approximately 2.6% (30/1154) in children with MR/DD who are referred for subtelomere study...
  3. ncbi X-linked myotubular myopathy in a family with three adult survivors
    S Yu
    Department of Laboratory Genetics, Women s and Children s Hospital, North Adelaide, Adelaide, Australia
    Clin Genet 64:148-52. 2003
    ..To our knowledge, this is the third X-linked myotubular myopathy family, with multiple adult survivors, to be reported in the literature...
  4. ncbi Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat
    S Yu
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, Australia
    Cell 88:367-74. 1997
    ..Therefore the mutation mechanism associated with trinucleotide repeats is also a property of minisatellite repeats (variable number tandem repeats)...
  5. ncbi Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease
    K Narahara
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, Adelaide, Australia
    J Med Genet 34:213-6. 1997
    ..Furthermore, we refined the regional mapping of the human PAX2 gene to the junction of bands 10q24.3 and 10q25.1...
  6. ncbi FRAXE and mental retardation
    J C Mulley
    Centre for Medical Genetics, Cytogenetics and Molecular Genetics, Women s and Children s Hospital, Adelaide, Australia
    J Med Genet 32:162-9. 1995
    ....
  7. ncbi A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A
    J C Mulley
    Department of Genetic Medicine, Women s and Children s Hospital, North Adelaide, South Australia, 5006 Australia
    Neurology 67:1094-5. 2006
    ..Two of 13 patients (15%) who fulfilled the strict clinical definition of SMEI but without SCN1A coding or splicing mutations had exonic deletions of SCN1A...
  8. ncbi Characterization of a neocentric supernumerary marker chromosome originating from the Xp distal region by FISH, CENP-C staining, and array CGH
    S Yu
    Dr John T Macdonald Foundation Center for Medical Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA
    Cytogenet Genome Res 116:141-5. 2007
    ..We have described here a new neocentromere with discussion of its clinical significance...
  9. ncbi X-linked myotubular myopathy: mutation R69C identified in a family with multiple neonatal deaths
    K Cox
    Clin Genet 67:441-2. 2005
  10. ncbi Sequence analysis shows that ribgrass mosaic virus Shanghai isolate (RMV-Sh) is closely related to Youcai mosaic virus
    H Zhu
    Department of Microbiology, Fudan University, Shanghai, PR China
    Arch Virol 146:1231-8. 2001
    ..Only coat protein sequences have been reported for other RMV isolates but it seems likely that the distinction between RMV and YoMV will be difficult to maintain...
  11. ncbi Protein phosphatase 2A: identification in Oryza sativa of the gene encoding the regulatory A subunit
    S Yu
    National Center for Gene Research, Chinese Academy of Sciences, Shanghai
    Plant Mol Biol 45:107-12. 2001
    ..The PP2A protein is highly conserved in nature; the rice protein shows 88% amino acid identity with its counterparts in Arabidopsis or Nicotiana tabacum...
  12. ncbi Structural and genetic studies of the proliferation disrupter genes of Drosophila simulans and D. melanogaster
    M Itoh
    Department of Applied Biology, Kyoto Institute of Technology, Japan
    Genetica 106:223-9. 1999
    ..The PRODs of D. simulans and D. melanogaster presumably share the same function and a conserved working mechanism. The prod gene showed no significant interaction with the lethality of the male hybrid between these species...
  13. ncbi Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy
    D Yu
    Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Endocrinol Metab 84:3254-9. 1999
    ..Serial measurements of thyroid function in members of kindred 1 indicate that TSH resistance progresses with age and becomes more evident after the first year of life...
  14. ncbi Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2
    C Jones
    Department of Pathology, University of Cambridge, UK
    Nature 376:145-9. 1995
    ..These results have broad implications for the role of p(CCG)n repeat expansion in the aetiology of genetic disease involving chromosome rearrangements...
  15. ncbi Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site
    R I Richards
    Department of Cytogenetics and Molecular Genetics, Adelaide Children s Hospital, South Australia
    J Med Genet 28:818-23. 1991
    ..7 cM distal to DXS297 and 1.2 cM proximal to DXS296...