Simon T Cliffe
Affiliation: New South Wales
- The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110Simon T Cliffe
Centre for Vascular Research, University of New South Wales, Sydney, Australia
Prenat Diagn 27:674-6. 2007..DNA testing detected a homozygous truncating mutation in exon 5; SP110 c.642delC. Prenatal testing was offered to this family in a subsequent pregnancy...
- Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndromeSimon T Cliffe
Department of Haematology and Genetics, Prince of Wales Hospital, Sydney, Australia
J Allergy Clin Immunol 130:735-742.e6. 2012....
- Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive diseaseTony Roscioli
Centre for Vascular Research, University of New South Wales, Sydney 2052, Australia
Nat Genet 38:620-2. 2006..This is the first report of the involvement of a nuclear body protein in a human primary immunodeficiency and of high-penetrance genetic mutations in hepatic veno-occlusive disease...
- SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathwaySimon T Cliffe
Department of Haematology and Genetics, South Eastern Area Laboratory Services, Sydney, NSW 2031, Australia
Hum Mol Genet 18:2257-65. 2009..These data suggest that further investigation of the role of SLC29A3 in glucose metabolism is a priority for diabetes research...