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David Sillence

Research Profile

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Publications

TOP 3
M Tchan; David Sillence
Fabry disease and Factor V Leiden: a potent vascular risk combination.
Frederick S Kaplan; Meiqi Xu; David L Glaser; Felicity Collins; Michael Connor; Joseph Kitterman; David Sillence; Elaine Zackai; Vardit Ravitsky; Michael Zasloff; Arupa Ganguly; Eileen M Shore
Early diagnosis of fibrodysplasia ossificans progressiva.
Helena Gleeson; Esko Wiltshire; Julie Briody; Jill Hall; Jeff Chaitow; David Sillence; Christopher T Cowell; Craig Munns
Childhood chronic recurrent multifocal osteomyelitis: pamidronate therapy decreases pain and improves vertebral shape.

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All Publications

2011: M Tchan; David Sillence
Fabry disease and Factor V Leiden: a potent vascular risk combination.
Internal medicine journal 2011;41(5):422-6.
2008: Frederick S Kaplan; Meiqi Xu; David L Glaser; Felicity Collins; Michael Connor; Joseph Kitterman; David Sillence; Elaine Zackai; Vardit Ravitsky; Michael Zasloff; Arupa Ganguly; Eileen M Shore
Early diagnosis of fibrodysplasia ossificans progressiva.
Pediatrics 2008;121(5):e1295-300.
2008: Helena Gleeson; Esko Wiltshire; Julie Briody; Jill Hall; Jeff Chaitow; David Sillence; Christopher T Cowell; Craig Munns
Childhood chronic recurrent multifocal osteomyelitis: pamidronate therapy decreases pain and improves vertebral shape.
The Journal of rheumatology 2008;35(4):707-12.
2007: Kristien P Hoornaert; Ivo Marik; Kazimierz Kozlowski; Trevor Cole; Martine Le Merrer; Jules G Leroy; Paul J Coucke; David Sillence; Geert R Mortier
Czech dysplasia metatarsal type: another type II collagen disorder.
European journal of human genetics : EJHG 2007;15(12):1269-75.
2007: Matthew S P Ho; Kwok Yeung Tsang; Rebecca L K Lo; Miki Susic; Outi Mäkitie; Tori W Y Chan; Vivian C W Ng; David Sillence; Raymond P Boot-Handford; Gary Gibson; Kenneth M C Cheung; William G Cole; Kathryn S E Cheah; Danny Chan
COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.
Human molecular genetics 2007;16(10):1201-15.
2007: Linda Martin; Allan Sturgess; David Sillence; Dédée F Murrell
Fabry disease in a heterozygote presenting as hand ischaemia and painful acroparaesthesia.
The Australasian journal of dermatology 2007;48(1):40-2.
2006: Michael Gabbett; Kristi Jones; Christopher T Cowell; David Sillence; Meredith J Wilson
Neonatal severe hyperparathyroidism: an important clue to the aetiology.
Journal of paediatrics and child health 2006;42(12):813-6.
2006: Duncan B Sparrow; Gavin Chapman; Merridee A Wouters; Neil Whittock; Sian Ellard; Diane Fatkin; Peter D Turnpenny; Kenro Kusumi; David Sillence; Sally L Dunwoodie
Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype.
American journal of human genetics 2006;78(1):28-37.
2005: Ramesh Bajaj; Janine Smith; Delphine Trochet; John Pitkin; Robert Ouvrier; Nicole Graf; David Sillence; Martin Kluckow
Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant.
Pediatrics 2005;115(6):e737-8.
2005: Robert C Gensure; Outi Mäkitie; Catherine Barclay; Catherine Chan; Steven R Depalma; Murat Bastepe; Hilal Abuzahra; Richard Couper; Stefan Mundlos; David Sillence; Leena Ala Kokko; Jonathan G Seidman; William G Cole; Harald Jüppner
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.
The Journal of clinical investigation 2005;115(5):1250-7.
2005: F Fleming; Helen Woodhead; Julie Briody; J Hall; Christopher T Cowell; J Ault; Kazimierz Kozlowski; David Sillence
Cyclic bisphosphonate therapy in osteogenesis imperfecta type V.
Journal of paediatrics and child health 2005;41(3):147-51.
2005: Satkiran S Grewal; Robert Wynn; Jose E Abdenur; Barbara K Burton; Maged Gharib; Claudia Haase; Robert J Hayashi; Shalini Shenoy; David Sillence; George E Tiller; Martha E Dudek; Annet van Royen-Kerkhof; James Wraith; Paul Woodard; Guy A Young; Nico M Wulffraat; Chester Whitley; Charles Peters
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(2):143-6.
2005: Katherine R Neas; Janine M Smith; Nicole Chia; Suna Huseyin; Luke St Heaps; Greg Peters; Gary Sholler; Dimitra Tzioumi; David Sillence; David Mowat
Three patients with terminal deletions within the subtelomeric region of chromosome 9q.
American journal of medical genetics. Part A 2005;132(4):425-30.
2004: Grace David; David Sillence; Robert Hardwick; John M Opitz
A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome.
American journal of medical genetics. Part A 2004;130A(4):389-92.
2004: Neil Whittock; Duncan B Sparrow; Merridee A Wouters; David Sillence; Sian Ellard; Sally L Dunwoodie; Peter D Turnpenny
Mutated MESP2 causes spondylocostal dysostosis in humans.
American journal of human genetics 2004;74(6):1249-54.
2004: Leanne K Hein; Michael Bawden; Viv J Muller; David Sillence; John J Hopwood; Doug A Brooks
alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.
Journal of molecular biology 2004;338(3):453-62.
2003: Annemarie J van der Slot; Anne-Marie Zuurmond; Alfons F J Bardoel; Cisca Wijmenga; Hans E H Pruijs; David Sillence; Jürgen Brinckmann; David J Abraham; Carol M Black; Nicole Verzijl; Jeroen DeGroot; roeland hanemaaijer; Johan teKoppele; Tom W J Huizinga; Ruud A Bank
Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis.
The Journal of biological chemistry 2003;278(42):40967-72.
2002: Kazimierz Kozlowski; John Masel; David Sillence; Susan Arbuckle; Vera Juttnerova
Gracile bone dysplasias.
Pediatric radiology 2002;32(9):629-34.
2002: Duncan B Sparrow; Melanie Clements; Sarah L Withington; Annabelle N Scott; Jiri Novotny; David Sillence; Kenro Kusumi; Rosa S P Beddington; Sally L Dunwoodie
Diverse requirements for Notch signalling in mammals.
The International journal of developmental biology 2002;46(4):365-74.
1999: Agi K Gedeon; A Colley; R Jamieson; E M Thompson; J Rogers; David Sillence; George E Tiller; John C Mulley; Jozef Gécz
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.
Nature genetics 1999;22(4):400-4.
1999: F Cisarik; Kazimierz Kozlowski; J Masel; David Sillence
Variability in kyphomelic dysplasia.
Pediatric radiology 1999;29(7):551-7.
1998: John C Mulley; Kathrin Saar; G Hewitt; Franz Rüschendorf; H Phillips; A Colley; David Sillence; A Reis; M Wilson
Gene localization for an autosomal dominant familial periodic fever to 12p13.
American journal of human genetics 1998;62(4):884-9.
1997: K M Kwan; M K Pang; S Zhou; S K Cowan; R Y Kong; T Pfordte; B R Olsen; David Sillence; Patrick P L Tam; Kathryn S E Cheah
Abnormal compartmentalization of cartilage matrix components in mice lacking collagen X: implications for function.
The Journal of cell biology 1997;136(2):459-71.
1995: Agi K Gedeon; M J Wilson; A C Colley; David Sillence; John C Mulley
X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.
Journal of medical genetics 1995;32(5):383-8.