Browsing by Author Sillence, David

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Issue DateTitleAuthor(s)Citation
2004Alpha-L-Iduronidase Premature Stop Codons And Potential Read-Through In Mucopolysaccharidosis Type I Patients.Sillence, David; Bawden, Michael; Brooks, Doug A; Hein, Leanne K; Hopwood, John J; Muller, Vivienne J; Children's Hospital Westmead: Paediatrics & Child HealthAlpha-L-Iduronidase Premature Stop Codons And Potential Read-Through In Mucopolysaccharidosis Type I Patients., Journal of Molecular Biology, vol.338,(3),2004,pp 453-462
2017Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotypeAdes, Lesley; Sillence, David; Addor, Marie-Claude; Bertola, Debora; Bohring, Axel; Carter, Erin; Cho, Tae-Joon; Daniel, Philip; et al, Various; Jenkins, Z; Morgan, Tim; Wade, Emma M; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthAutosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype, American Journal of Medical Genetics, Part A, vol.173, 7, 2017,pp 1739-1746
2008Childhood chronic recurrent multifocal osteomyelitis: pamidronate therapy decreases pain and improves vertebral shapeChaitow, Jeffrey; Cowell, Christopher; Hall, Jillian; Munns, Craig; Sillence, David; Briody, Julie N.; Gleeson, Helena; Wiltshire, Esko; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child Health; Physiotherapy; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthChildhood chronic recurrent multifocal osteomyelitis: pamidronate therapy decreases pain and improves vertebral shape, Journal Of Rheumatology, vol.35,(4),2008,pp 707-712
2014Cognitive and Psychological Functioning in Fabry DiseaseSillence, David; Tchan, Michel; Batchelor, Jennifer; Knopman, Alex A; Menzies, Graham C; Sigmundsdottir, Linda; Childrens Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead)Cognitive and Psychological Functioning in Fabry Disease, Archives of Clinical Neuropsychology, vol.29, 7, 2014,pp 642-650
2012Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VISillence, David; Waters, Karen; Donaldson, S.; Ellaway, Carolyn; Shaw, Peter J.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthCombined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI in JIMD Reports - Case and Research Reports, 2011/2, Springer, 2012, pp. 103-106
2003Desbuquois syndrome: Clinical and radiological report of the first two Chinese cases from a consanguineous familySillence, David; Chan, HB; Lam, WF; Children's Hospital Westmead: Paediatrics & Child HealthDesbuquois syndrome: Clinical and radiological report of the first two Chinese cases from a consanguineous family, Journal of Paediatrics and Child Health, vol.39,(9),2003,pp 707-712
2012Development in children with achondroplasia: a prospective clinical cohort studySillence, David; Ault, Jenny E.; Donaghey, Samantha; Ireland, Penelope; Johnston, Leanne Marie; McGill, James; Pacey, Verity; Savarirayan, Ravi; Thompson, Elizabeth; Townshend, Sharron; Ware, Robert S; Zankl, Andreas; Children's Hospital Westmead: Paediatrics & Child HealthDevelopment in children with achondroplasia: a prospective clinical cohort study, Developmental Medicine and Child Neurology, vol.54, 6, 2012,pp 532`-537
2010Developmental milestones in infants and young Australasian children with achondroplasiaSillence, David; Ault, Jenny E.; Donaghey, Samantha; et al, various; Ireland, Penelope; Johnson, Leanne; Johnson, Sarah; McGill, Jim; Pacey, Verity; Ware, Robert S; Zankl, Andreas; Children's Hospital Westmead: Paediatrics & Child HealthDevelopmental milestones in infants and young Australasian children with achondroplasia, Journal of Developmental and Behavioral Pediatrics, vol.31, 1,pp 41-47
2009The differential diagnosis of children with joint hypermobility: a review of the literatureElliott, Elizabeth; Munns, Craig; Pacey, Verity; Sillence, David; Tofts, Louise; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Physiotherapy; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthThe differential diagnosis of children with joint hypermobility: a review of the literature, Pediatric Rheumatology Online Journal, vol.7,(1),2009,pp 1-1-1-10
2008Early diagnosis of Fibrodysplasia Ossificans ProgressivaSillence, David; Collins, Felicity; Connor, Michael; Ganguly, Arupa; Glaser, David L; Kaplan, Frederick S; Kitterman, Joseph; Ravitsky, Vardit; Shore, Eileen M; Xu, Meiqi; Zackai, Elaine; Zasloff, Michael; Children's Hospital Westmead: Paediatrics & Child HealthEarly diagnosis of Fibrodysplasia Ossificans Progressiva, Pediatrics, vol.121,(5),2008,pp e1295-N/A
2013The effect of height, weight and head circumference on gross motor development in achondroplasiaSillence, David; Ault, Jenny; Donaghey, Samantha; Ireland, Penelope; Johnston, Leanne M; McGill, James; Pacey, Verity; Savarirayan, Ravi; Thompson, E. M.; Townshend, Sharron; Ware, Robert; Zankl, Andreas; Children's Hospital Westmead: Paediatrics & Child HealthThe effect of height, weight and head circumference on gross motor development in achondroplasia, Journal of Paediatrics and Child Health, vol.49, 2, 2013,pp E122-E127
2011Functional performance in young Australian children with achondroplasiaSillence, David; Ault, Jenny E.; Ireland, Penelope Jane; Johnston, Leanne Marie; McGill, James; Pacey, Verity; Savarirayan, Ravi; Thompson, E. M.; Townshend, Sharron; Ware, Robert S; Zankl, Andreas; Children's Hospital Westmead: Paediatrics & Child HealthFunctional performance in young Australian children with achondroplasia, Developmental Medicine and Child Neurology, vol.53, 10, 2011,pp 944-950
2012Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan SynthesisSillence, David; Abu-Libdeh, Bassam; Alanay, Yasemin; Albrecht, Beate; De Leonardis, Fabio; et al, Various; Forlino, Antonella; Fradin, Melanie; Huber, Celine; Merrina, Rodolphe; Nizon, Mathilde; Tuysuz, Beyhan; Children's Hospital Westmead: Paediatrics & Child HealthFurther Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis, Human Mutation, vol.33, 8, 2012,pp 1261-1266
2009Generalized arterial calcification of infancy: treatment with bisphosphonates.Munns, Craig; Ramjan, Kim; Roscioli, Tony; Sillence, David; Rutsch, Frank; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Medicine; Children's Hospital Westmead: Paediatrics & Child HealthGeneralized arterial calcification of infancy: treatment with bisphosphonates., Nature clinical practice: Endocrinology and metabolism, vol.5,(3),2009,pp 167-172
2002Gracile bone dysplasiasSillence, David; Arbuckle, Susan; Juttnerova, Vera; Kozlowski, Kazimierz; Masel, John; Children's Hospital Westmead: Paediatrics & Child HealthGracile bone dysplasias, Pediatric radiology, vol.32,(9),2002,pp 629-634
2012Homocysteine and Erythrocyte Sedimentation Rate Correlate with Cerebrovascular Disease in Fabry DiseaseSillence, David; Cheung, R; Tchan, Michel; Children's Hospital Westmead: Paediatrics & Child HealthHomocysteine and Erythrocyte Sedimentation Rate Correlate with Cerebrovascular Disease in Fabry Disease in JIMD Reports - Case and Research Reports, 2012/3, Springer, 2012, pp. 101-105
2015Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing DefectsMunns, Craig; Sillence, David; Biggin, Andrew; Fahiminiya, Somayyeh; Fassier, Francois; Glorieux, Francis H; Hinsdale, Myron E; Majewski, Jacek; Metcalf, Jordan P; Munteanu, Maria Cristina; Poudel, Nabin; Rauch, F; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthHomozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects, American Journal of Human Genetics, vol.96, 6, 2015,pp 971-978
2003Identification of PLOD2 as Telopeptide Lysyl Hydroxylase, an Important Enzyme in FibrosisSillence, David; Abraham, David J.; Bank, Ruud A.; Bardoel, Alfons F J; Black, Carol M.; Brinckmann, Juergen; DeGroot, Jeroen; Hanemaaijer, Roeland; Huizinga, Tom W. J.; Pruijs, Hans E.H.; TeKoppele, Johan M.; Van der Slot, Annemarie J.; Verzijl, Nicole; Wijmenga, Cisca; Zuurmond, Anne-Marie; Children's Hospital Westmead: Paediatrics & Child HealthIdentification of PLOD2 as Telopeptide Lysyl Hydroxylase, an Important Enzyme in Fibrosis, Journal of Biological Chemistry, vol.278,(42),2003,pp 40967-40972
2014The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type VMunns, Craig; Sillence, David; Baynam, Gareth; Broley, Stephanie; Brown, Matthew; Cavan, Barbra; et al, Various; Lazarus, Syndia; McInerney-Leo, Aideen; McKenzie, Fiona; Pruijs, Hans E.H.; Pryce, Karena; Terhal, Paulien; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthThe IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V, BMC Musculoskeletal Disorders, vol.15, 1, 2014,pp 1-6
2012IMPAD1 Mutations in Two Catel-Manzke Like PatientsSillence, David; Alanay, Yasemin; Cormier-Daire, Valerie; Genevieve, David; Huber, Celine; Kiper, Pelin; Munnich, Arnold; Nizon, Mathilde; Tuysuz, Beyhan; Children's Hospital Westmead: Paediatrics & Child HealthIMPAD1 Mutations in Two Catel-Manzke Like Patients, American Journal of Medical Genetics. Part A, vol.158A, 9, 2012,pp 2183-2187