D Sillence
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Explore the profile of D Sillence including associated specialties, affiliations and a list of published articles.
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52
Citations
761
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Recent Articles
1.
Sillence D, Waters K, Donaldson S, Shaw P, Ellaway C
JIMD Rep
. 2013 Feb;
2:103-6.
PMID: 23430861
Mucopolysaccharidosis type VI, Maroteaux-Lamy syndrome is a lysosomal storage disorder with progressive, multisystem involvement caused by deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase leading to accumulation of the glycosaminoglycan, keratan sulfate....
2.
Gray P, Sillence D, Kakakios A
Int J Immunogenet
. 2011 Oct;
38(6):501-5.
PMID: 21977988
Roifman syndrome is a rare syndrome of bone dysplasia, growth retardation, retinal dystrophy and humeral immunodeficiency. Six cases have been reported to date, all of whom are male. We report...
3.
Tchan M, Sillence D
Intern Med J
. 2011 May;
41(5):422-6.
PMID: 21605293
A 45-year-old man with heterozygous Factor V Leiden presented with his third cerebrovascular accident despite being on warfarin at a therapeutic international normalized ratio. Subsequent investigation revealed a second genetic...
4.
Sparrow D, Chapman G, Wouters M, Whittock N, Ellard S, Fatkin D, et al.
Am J Hum Genet
. 2005 Dec;
78(1):28-37.
PMID: 16385447
The spondylocostal dysostoses (SCDs) are a heterogeneous group of vertebral malsegmentation disorders that arise during embryonic development by a disruption of somitogenesis. Previously, we had identified two genes that cause...
5.
Robinson C, Baker N, Noble J, King A, David G, Sillence D, et al.
J Inherit Metab Dis
. 2003 Apr;
25(8):681-93.
PMID: 12705498
Mucolipidosis type III (ML III; McKusick 252600) is a rare lysosomal storage disease in which skeletal involvement is prominent, in particular the destruction of vertebral bodies and the femoral heads....
6.
Taillandier A, Lia-Baldini A, Mouchard M, Robin B, Muller F, Simon-Bouy B, et al.
Hum Mutat
. 2001 Jul;
18(1):83-4.
PMID: 11438998
Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney tissue alkaline phosphatase (L/B/K ALP) activity. We report here the characterization of...
7.
Henderson S, Sillence D, Loughlin J, Bennetts B, Sykes B
J Med Genet
. 2001 Feb;
37(12):956-8.
PMID: 11186939
No abstract available.
8.
McCusker E, Richards F, Sillence D, Wilson M, Trent R
J Clin Neurosci
. 2000 Jun;
7(1):38-41.
PMID: 10847649
One hundred and fifty-six potential gene carriers who were 50% 'at risk' of inheriting the Huntington's disease (HD) mutation, and who presented for predictive testing, underwent neurological assessment before their...
9.
Stone D, Carey W, Christodoulou J, Sillence D, Nelson P, Callahan M, et al.
Arch Dis Child Fetal Neonatal Ed
. 2000 Feb;
82(2):F163-6.
PMID: 10685993
The association of Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase (EC 3.2.1.45), and congenital ichthyosis was first noted a decade ago. Subsequently, a null allele type 2 Gaucher mouse...
10.
Reardon W, Smith A, Honour J, Hindmarsh P, Das D, Rumsby G, et al.
J Med Genet
. 2000 Jan;
37(1):26-32.
PMID: 10633130
The Antley-Bixler syndrome has been thought to be caused by an autosomal recessive gene. However, patients with this phenotype have been reported with a new dominant mutation at the FGFR2...