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Publications list for Professor David Sillence

2009 | 2008 | 2006 | 2005 | 2004 | 2003

2009

   
  • Ramjan, K., Roscioli, T., Rutsch, F., Sillence, D., Munns, C. Generalized arterial calcification of infancy: treatment with bisphosphonates. Nature Clinical Practice Endocrinology & Metabolism. 2009; 5:167-172. [Abstract]
  • Tofts, L., Elliott, E., Munns, C., Pacey, V., Sillence, D. The differential diagnosis of children with joint hypermobility: a review of the literature. Pediatric Rheumatology Online Journal. 2009; 7:1. [Abstract]

2008

   
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  • Kaplan, F., Xu, M., Glaser, D., Collins, F., Connor, M., Kitterman, J., Sillence, D., Zackai, E., Ravitsky, V., Zasloff, M., Ganguly, A., Shore, E. Early diagnosis of fibrodysplasia ossificans progressiva. Pediatrics. 2008; 121:e1295-300. [Abstract]
  • Gleeson, H., Wiltshire, E., Briody, J., Hall, J., Chaitow, J., Sillence, D., Cowell, C., Munns, C. Childhood chronic recurrent multifocal osteomyelitis: pamidronate therapy decreases pain and improves vertebral shape. The Journal of Rheumatology. 2008; 35:707-712. [Abstract]

2006

   
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  • Gabbett, M., Jones, K., Cowell, C., Sillence, D., Wilson, M. Neonatal severe hyperparathyroidism: An important clue to the aetiology. Journal of paediatrics and child health. 2006; 42:813-6. [Abstract]
  • Sparrow, D., Chapman, G., Wouters, M., Whittock, N., Ellard, S., Fatkin, D., Turnpenny, P., Kusumi, K., Sillence, D., Dunwoodie, S. Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. American journal of human genetics. 2006; 78:28-37. [Abstract]

2005

   
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  • Bajaj, R., Smith, J., Trochet, D., Pitkin, J., Ouvrier, R., Graf, N., Sillence, D., Kluckow, M. Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant. Pediatrics. 2005; 115:e737-8. [Abstract]
  • Gensure, R., Mäkitie, O., Barclay, C., Chan, C., Depalma, S., Bastepe, M., Abuzahra, H., Couper, R., Mundlos, S., Sillence, D., Ala Kokko, L., Seidman, J., Cole, W., Jüppner, H. A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. The Journal of clinical investigation. 2005; 115:1250-7. [Abstract]
  • Fleming, F., Woodhead, H., Briody, J., Hall, J., Cowell, C., Ault, J., Kozlowski, K., Sillence, D. Cyclic bisphosphonate therapy in osteogenesis imperfecta type V. Journal of paediatrics and child health. 2005; 41:147-51. [Abstract]
  • Grewal, S., Wynn, R., Abdenur, J., Burton, B., Gharib, M., Haase, C., Hayashi, R., Shenoy, S., Sillence, D., Tiller, G., Dudek, M., van Royen-Kerkhof, A., Wraith, J., Woodard, P., Young, G., Wulffraat, N., Whitley, C., Peters, C. Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome. Genetics in medicine: official journal of the American College of Medical Genetics. 2005; 7:143-6. [Abstract]
  • Neas, K., Smith, J., Chia, N., Huseyin, S., St Heaps, L., Peters, G., Sholler, G., Tzioumi, D., Sillence, D., Mowat, D. Three patients with terminal deletions within the subtelomeric region of chromosome 9q. American Journal of Medical Genetics. Part A. 2005; 132:425-30. [Abstract]

2004

   
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  • David, G., Sillence, D., Hardwick, R., Opitz, J. A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome. American Journal of Medical Genetics. Part A. 2004; 130A:389-92. [Abstract]
  • Hein, L., Bawden, M., Muller, V., Sillence, D., Hopwood, J., Brooks, D. alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. Journal of molecular biology. 2004; 338:453-62. [Abstract]

2003

   
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  • Robinson, C., Sillence, D. The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment. Journal Of Inherited Metabolic Disease. 2003; 25:681-693.
  • Van Der Slott, A., Sillence, D., 13 Researchers from, P. Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis. Journal Of Biological Chemistry. 2003; 278 (42):40967-40972.
  • Lam, W., Chan, H., Sillence, D. Desbuquois syndrome: Clinical and radiological report fo the first two Chinese cases from a consanguineous family. Journal of Paediatrics and Child Health. 2003; 39:707-712.