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David Sillence Selected Research

Omani type Spondyloepiphyseal dysplasia

8/2012Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
10/2010Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.

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David Sillence Research Topics

Disease

3Mucopolysaccharidosis I (Hurler Syndrome)
07/2009 - 04/2004
2Mucolipidoses (Sialidosis)
05/2014 - 06/2010
2Desbuquois syndrome
09/2012 - 10/2010
2Joint Dislocations
09/2012 - 10/2010
2Omani type Spondyloepiphyseal dysplasia
08/2012 - 10/2010
2Fabry Disease (Fabry's Disease)
01/2012 - 02/2007
2Pain (Aches)
01/2012 - 04/2008
1alpha-Mannosidosis
11/2019
1Type V Osteogenesis Imperfecta
03/2014
1Osteogenesis Imperfecta (Lobstein Disease)
03/2014
1Catel Manzke syndrome
09/2012
1Cleft Palate (Palate, Cleft)
09/2012
1Brachydactyly
09/2012
1Achondroplasia
05/2012
1Marfan Syndrome (Marfan's Syndrome)
07/2011
1Arachnodactyly
07/2011
1Brain Diseases (Brain Disorder)
12/2010
1Seizures (Absence Seizure)
12/2010
1Hypophosphatasia
12/2010
1Larsen Syndrome
10/2010
1Bone Diseases (Bone Disease)
06/2010
1Hyperparathyroidism
06/2010
1Mucopolysaccharidosis III (Sanfilippo Syndrome)
09/2009
1Arterial calcification of infancy
03/2009
1Vitamin D Deficiency
03/2009
1Myositis Ossificans (Fibrodysplasia Ossificans Progressiva)
05/2008
1Chronic recurrent multifocal osteomyelitis
04/2008
1Torrance Type Platyspondylic Lethal Skeletal Dysplasia
12/2007
1metatarsal type Czech dysplasia
12/2007
1Congenital Cortical Hyperostosis (Infantile Cortical Hyperostosis)
05/2005

Drug/Important Bio-Agent (IBA)

2EnzymesIBA
11/2019 - 07/2009
2mutalipocin IIIBA
05/2014 - 06/2010
2ChondroitinIBA
08/2012 - 10/2010
2SulfotransferasesIBA
08/2012 - 10/2010
1MannosidasesIBA
11/2019
1Initiator Codon (Start Codon)IBA
03/2014
15' Untranslated Regions (5' UTR)IBA
03/2014
1Proteins (Proteins, Gene)FDA Link
03/2014
1CalciumIBA
09/2012
1nucleotidaseIBA
09/2012
1myo-inositol-1 (or 4)-monophosphatase (inositol monophosphatase)IBA
09/2012
1CarbohydratesIBA
08/2012
1agalsidase betaFDA Link
01/2012
1agalsidase alfaIBA
01/2012
1Fibrillin-1IBA
07/2011
1Alkaline PhosphataseIBA
12/2010
1Neurotransmitter Agents (Neurotransmitter)IBA
12/2010
1Pyridoxine (Pyridoxin)FDA LinkGeneric
12/2010
1FilaminsIBA
10/2010
1Carbohydrate SulfotransferasesIBA
10/2010
1MineralsIBA
06/2010
1Risperidone (Risperdal Consta)FDA LinkGeneric
09/2009
1Parathyroid Hormone (Parathormone)IBA
03/2009
1Ergocalciferols (Ergocalciferol)FDA LinkGeneric
03/2009
1Diphosphonates (Bisphosphonates)IBA
03/2009
1Glycine (Aminoacetic Acid)FDA LinkGeneric
05/2008
1Codon (Codons)IBA
05/2008
1Serine (L-Serine)FDA Link
05/2008
1Activin Receptors (Activin Receptor)IBA
05/2008
1NucleotidesIBA
05/2008
1Bone Morphogenetic Proteins (Bone Morphogenetic Protein)IBA
05/2008
1Pamidronate (Aredia)FDA LinkGeneric
04/2008
1ProcollagenIBA
12/2007
1Collagen Type II (Type II Collagen)IBA
12/2007
1LipidsIBA
02/2007
1alpha-Galactosidase (Beano)IBA
02/2007
1CollagenIBA
05/2005
1GlycosaminoglycansIBA
04/2004
1Nonsense Codon (Nonsense Mutation)IBA
04/2004
1Terminator Codon (Termination Codon)IBA
04/2004
1Iduronidase (alpha-L-Iduronidase)IBA
04/2004

Therapy/Procedure

3Enzyme Replacement Therapy
01/2012 - 02/2005
2Therapeutics
05/2012 - 04/2008
1Drug Tapering
01/2012
1Stem Cell Transplantation
07/2009
1Secondary Prevention
04/2008
1Hematopoietic Stem Cell Transplantation
02/2005