Tony Roscioli

Summary

Affiliation: New South Wales
Country: Australia

Publications

  1. ncbi request reprint Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease
    Tony Roscioli
    Centre for Vascular Research, University of New South Wales, Sydney 2052, Australia
    Nat Genet 38:620-2. 2006
  2. ncbi request reprint The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype
    Tony Roscioli
    Queensland Clinical Genetics Service, Herston, Brisbane, Queensland, Australia
    Am J Med Genet A 124:136-41. 2004
  3. ncbi request reprint The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110
    Simon T Cliffe
    Centre for Vascular Research, University of New South Wales, Sydney, Australia
    Prenat Diagn 27:674-6. 2007
  4. ncbi request reprint A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype
    Julie McGaughran
    Queensland Clinical Genetics Service, Royal Children s Hospital, Herston, Brisbane 4029, Queensland, Australia
    Clin Dysmorphol 15:89-93. 2006
  5. ncbi request reprint Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation
    Andreas Zankl
    Genetic Health Queensland, Royal Children s Hospital, Brisbane, Australia
    Am J Med Genet A 146:212-8. 2008
  6. ncbi request reprint Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia
    Valentine J Hyland
    Department of Surgery, University of Queensland, Royal Brisbane Hospital, Herston Hospitals Campus, Brisbane, Australia
    Am J Med Genet A 120:157-68. 2003
  7. ncbi request reprint Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification
    Frank Rutsch
    Department of Medicine, Veterans Affairs Medical Center, University of California San Diego, 3350 La Jolla Village Drive, La Jolla, California 92161, USA
    Nat Genet 34:379-81. 2003
  8. ncbi request reprint The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation
    Alexandra Varol
    Department of Dermatology, Liverpool Hospital, New South Wales, Australia
    Australas J Dermatol 47:274-6. 2006
  9. doi request reprint Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation
    Lucinda Freeman
    Sydney South West Genetic Service, SEALS Molecular and Cytogenetics Laboratory, Sydney, NSW, Australia
    Clin Dysmorphol 17:223-4. 2008

Collaborators

  • Peter J Taylor
  • Simon T Cliffe
  • Andreas Zankl
  • Julie McGaughran
  • Stephen P Robertson
  • Christopher G Bell
  • Donald B Bloch
  • Lucinda Freeman
  • Alexandra Varol
  • Frank Rutsch
  • Valentine J Hyland
  • Peter Anderson
  • Michael F Buckley
  • Geoff Watson
  • George Elakis
  • Glenda L Mullan
  • Robert Ogle
  • Karen Stapleton
  • Wendy Smith
  • Hillary Vallance
  • Bernd Hinrichs
  • Merry Ferre
  • Mohammad R Toliat
  • Alex Knisely
  • Dirk Schnabel
  • John Masel
  • James McGill
  • Galen Schauer
  • Mark Hayes
  • Ian A Glass
  • Robert Terkeltaub
  • Alan R Sinaiko
  • Ravi Savarirayan
  • Marco Filippone
  • Simon Flanagan
  • Sucheta Vaingankar
  • Andrea Superti-Furga
  • Nico Ruf
  • Peter Nurnberg
  • Mandy Lehmann
  • Jorg T Epplen
  • Wolfgang Hohne
  • Anita Suk

Detail Information

Publications9

  1. ncbi request reprint Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease
    Tony 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...
  2. ncbi request reprint The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype
    Tony Roscioli
    Queensland Clinical Genetics Service, Herston, Brisbane, Queensland, Australia
    Am J Med Genet A 124:136-41. 2004
    ..Further investigations are in progress to identify the gene within the SHFM3 critical region responsible for ectrodactyly...
  3. ncbi request reprint The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110
    Simon 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...
  4. ncbi request reprint A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype
    Julie McGaughran
    Queensland Clinical Genetics Service, Royal Children s Hospital, Herston, Brisbane 4029, Queensland, Australia
    Clin Dysmorphol 15:89-93. 2006
    ..Mutation analysis was undertaken and demonstrated the FGFR2 Y375C mutation. This case, one of only nine with molecular analysis, confirms the significant morbidity associated with this syndrome...
  5. ncbi request reprint Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation
    Andreas Zankl
    Genetic Health Queensland, Royal Children s Hospital, Brisbane, Australia
    Am J Med Genet A 146:212-8. 2008
    ..Clinical-radiological characteristics of all reported cases of SADDAN are reviewed and discussed...
  6. ncbi request reprint Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia
    Valentine J Hyland
    Department of Surgery, University of Queensland, Royal Brisbane Hospital, Herston Hospitals Campus, Brisbane, Australia
    Am J Med Genet A 120:157-68. 2003
    ..These findings confirm the proposita to be a somatic and germline mosaic for this particular missense mutation in FGFR3. Thus far, all reported FGFR3 R248C mutations have resulted in thanatophoric dysplasia type I (TDI)...
  7. ncbi request reprint Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification
    Frank Rutsch
    Department of Medicine, Veterans Affairs Medical Center, University of California San Diego, 3350 La Jolla Village Drive, La Jolla, California 92161, USA
    Nat Genet 34:379-81. 2003
    ..This cell surface enzyme generates inorganic pyrophosphate (PP(i)), a solute that regulates cell differentiation and serves as an essential physiologic inhibitor of calcification...
  8. ncbi request reprint The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation
    Alexandra Varol
    Department of Dermatology, Liverpool Hospital, New South Wales, Australia
    Australas J Dermatol 47:274-6. 2006
    ..This case highlights the need to consider the possibility of renal and uterine cancer in members of cutaneous leiomyomatosis families...
  9. doi request reprint Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation
    Lucinda Freeman
    Sydney South West Genetic Service, SEALS Molecular and Cytogenetics Laboratory, Sydney, NSW, Australia
    Clin Dysmorphol 17:223-4. 2008