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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Recent Articles
11.
van Meer G, Sillence D, Sprong H, Kalin N, Raggers R
Biosci Rep
. 1999 Dec;
19(4):327-33.
PMID: 10589998
Sphingolipids are highly enriched in the outer leaflet of the plasma membrane lipid bilayer. However, the first glycolipid, glucosylceramide, is synthesized in the opposite, cytosolic leaflet of the Golgi membrane....
12.
Gedeon A, Colley A, Jamieson R, Thompson E, Rogers J, Sillence D, et al.
Nat Genet
. 1999 Aug;
22(4):400-4.
PMID: 10431248
Spondyloepiphyseal dysplasia tarda (SEDL; MIM 313400) is an X-linked recessive osteochondrodysplasia that occurs in approximately two of every one million people. This progressive skeletal disorder which manifests in childhood is...
13.
Cisarik F, Kozlowski K, Masel J, Sillence D
Pediatr Radiol
. 1999 Jul;
29(7):551-7.
PMID: 10398797
Four infants with kyphomelic dysplasia ascertained from three families demonstrate variability within the syndrome. In the first family, sibling recurrence in female sibs was noted with atypical kyphomelic dysplasias, suggesting...
14.
Hayes M, Parker G, Ell J, Sillence D
J Neurol Neurosurg Psychiatry
. 1999 Mar;
66(3):357-64.
PMID: 10084535
Objectives: To describe the clinical and neuroradiological features of basilar impression in patients with osteogenesis imperfecta type IV. Methods: Four patients with basilar impression were ascertained in a population study...
15.
Hunter A, Bankier A, Rogers J, Sillence D, Scott Jr C
J Med Genet
. 1998 Sep;
35(9):705-12.
PMID: 9733026
Achondroplasia is the most prevalent chondrodysplasia and numerous authors have documented the varied social and medical complications that may compromise a full and productive life. Complications include cervicomedullary compression, spinal...
16.
Mulley J, Saar K, Hewitt G, Ruschendorf F, Phillips H, Colley A, et al.
Am J Hum Genet
. 1998 Jun;
62(4):884-9.
PMID: 9529351
We report gene localization in a family with a benign autosomal dominant familial periodic fever (FPF) syndrome characterized by recurrent fever associated with abdominal pain. The clinical features are similar...
17.
Miro Obradors M, Sillence D, Howitt S, Allan D
Biochim Biophys Acta
. 1997 Dec;
1359(1):1-12.
PMID: 9398080
The subcellular distributions of the enzymes which synthesise sphingomyelin (SM) and glucosylceramide (GluCer) from ceramide have been assessed in BHK cells. On a sucrose density gradient GluCer synthase (a marker...
18.
Jones M, Alroy J, Rutledge J, Taylor J, Alvord Jr E, Toone J, et al.
J Neuropathol Exp Neurol
. 1997 Nov;
56(10):1158-67.
PMID: 9329460
Mucopolysaccharidosis IIID (MPS IIID) is one of the rarest of the MPS-III syndromes. To date, the clinical manifestations of 10 patients have been reported, the deficient N-acetylglucosamine 6-sulfatase (G6S) enzyme...
19.
Sillence D, Worthington S, DIXON J, Osborn R, Kozlowski K
Pediatr Radiol
. 1997 May;
27(5):388-96.
PMID: 9133349
The clinical, radiographic, and morphological findings in 25 cases of atelosteogenesis and boomerang dysplasia have been reviewed. The review confirms the nosologic grouping of atelosteogenesis type I with boomerang dysplasia...
20.
Chong S, Almqvist E, Telenius H, LaTray L, Nichol K, Goldberg Y, et al.
Hum Mol Genet
. 1997 Feb;
6(2):301-9.
PMID: 9063751
New mutations for Huntington disease (HD) arise from intermediate alleles (IAs) with between 29 and 35 CAG repeats that expand on transmission through the paternal germline to 36 CAGs or...