Affiliation: University of Adelaide
- Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplicationS 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...
- Frequency of truly cryptic subtelomere abnormalities--a study of 534 patients and literature reviewS 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...
- X-linked myotubular myopathy in a family with three adult survivorsS 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...
- Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeatS 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)...
- 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 diseaseK 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...
- FRAXE and mental retardationJ 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....
- A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1AJ 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...
- Characterization of a neocentric supernumerary marker chromosome originating from the Xp distal region by FISH, CENP-C staining, and array CGHS 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...
- X-linked myotubular myopathy: mutation R69C identified in a family with multiple neonatal deathsK Cox
Clin Genet 67:441-2. 2005
- Sequence analysis shows that ribgrass mosaic virus Shanghai isolate (RMV-Sh) is closely related to Youcai mosaic virusH 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...
- Protein phosphatase 2A: identification in Oryza sativa of the gene encoding the regulatory A subunitS 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...
- Structural and genetic studies of the proliferation disrupter genes of Drosophila simulans and D. melanogasterM 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...
- Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophyD 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...
- Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2C 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...
- Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile siteR 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...