Browsing by Author Roscioli, Tony

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Issue DateTitleAuthor(s)Citation
2002Allogeneic bone marrow transplantation: cure for familial Mediterranean feverBennetts, Bruce; Christodoulou, John; Curtin, Julie; Shaw, Peter; Mansour, Albert; Milledge, John; Roscioli, Tony; Williamson, Sarah; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthAllogeneic bone marrow transplantation: cure for familial Mediterranean fever, Blood, vol.100,(3),2002,pp 774-777
2004Analysis Of Intracranial Volume In Apert Syndrome Genotypes.Roscioli, Tony; Abbott, Amanda H; Anderson, Peter J; Cox, Timothy; David, David J; Netherway, David J; Central Clinical School: MedicineAnalysis Of Intracranial Volume In Apert Syndrome Genotypes., Pediatric neurosurgery, vol.40,(4),2004,pp 161-164
2016Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencingKumar, Kishore Raj; Roscioli, Tony; Sue, Carolyn; Wali, Gautam; Cowley, Mark; Dinger, Marcel; Gayevskiy, Velimir; Kamate, Mahesh; Minoche, Andre; Pinese, Mark; Puttick, Clare; Wali, G. M.; Northern Clinical School: Kolling Institute; Central Clinical School: Medicine; Northern Clinical School: Medicine; Northern Clinical School: Kolling InstituteDefining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing, Neurogenetics, vol.17, 4, 2016,pp 265-270
2007The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110Roscioli, Tony; Wilcken, Bridget; Buckley, Michael F; Cliffe, Simon T; Lindeman, Robert; Ruga, Ezia; Taylor, Peter; Wong, Melanie; Central Clinical School: Medicine; Children's Hospital Westmead: Paediatrics & Child HealthThe first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110, Prenatal diagnosis, vol.27,(7),2007,pp 674-676
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
2013Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patientsCollins, Felicity; Wilson, Meredith; Colley, Alison; Cox, Timothy; Elakis, George; et al, Various; Gabbett, Michael; Haan, Eric; Hackett, Emma; Kirk, Edwin; Le, Trang; Moon, David; Mowat, David; Roscioli, Tony; Sachdev, Rani; Thompson, Elizabeth; Turner, Anne Marie; Venselaar, Hanka; Worgan, L; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthGenotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients, American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, vol.163, 4, 2013,pp 259-270
2012Hepatic veno-occlusive disease with immunodeficiency (VODI): First reported case in the U.S. and identification of a unique mutation in Sp110Roscioli, Tony; Church, Joseph; Cliffe, Simon; Ong, Peck; Wang, Tiffany; Central Clinical School: MedicineHepatic veno-occlusive disease with immunodeficiency (VODI): First reported case in the U.S. and identification of a unique mutation in Sp110, Clinical Immunology, vol.145, 2, 2012,pp 102-107
2010Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndromeRoscioli, Tony; Bauer, Sebastian; Dahl, Andreas; Doelken, Sandra; et al, various; Fischer, Axel; Gruenhagen, Johannes; Hecht, Jochen; Isau, Melanie; Jaeger, Marten; Jonske de Condor, Birgit; Kerick, Martin; Kinoshita, Taroh; Koehler, Sebastian; Koelsch, Uwe; Krawitz, Peter M; Marcelis, Carlo; Meisel, Christian; Murakami, Yoshiko; Roedelsperger, Christian; Schweiger, Michal R; Stephani, Friederike; Central Clinical School: MedicineIdentity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome, Nature Genetics, vol.42, 10,pp 827-829
2003Mutations in ENPP1 are associated with 'idiopathic' infantile aterial calcificationRoscioli, Tony; Epplen, Jörg T.; et, al; Höhne, Wolfgang; Lehmann, Mandy; Ruf, Nico; Rutsch, F.; Schauer, Galen; Schnabel, Dirk; Suk, Anita; Toliat, Mohammad R.; Vaingankar, Sucheta; Central Clinical School: MedicineMutations in ENPP1 are associated with 'idiopathic' infantile aterial calcification, Nature Genetics, vol.11,(N/A),2003,pp 379-381
2006Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.Roscioli, Tony; Bell, Christopher G; Bloch, Donald B; Cliffe, Simon T; Donald, Jennifer; et, al; Kirk, Edwin P; Mullan, Glen; Sarris, Maria; Taylor, Peter; Wang, Joanne; Central Clinical School: MedicineMutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease., Nature Genetics, vol.38,(6),2006,pp 620-622
2016Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasiaNicholson, Garth; Buckley, Michael F.; Farrar, Michelle; Lee, James; Reddel, Stephen; Roscioli, Tony; Sampaio, Hugo; Stoll, Marion; Teoh, Hooiling; Zhu, Ying; Concord Clinical School: ANZAC Research InstituteNovel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia, Neurology, vol.87, 1, 2016,pp 65-70
2017Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiencyBalasubramaniam, Shanti; Christodoulou, John; Riley, Lisa; Bratkovic, D; Cowley, Mark; Gardeitchik, T; Gayevskiy, Velimir; Ketteridge, D; Manton, N; Mohamed, M; Morava, E; Roscioli, Tony; Childrens Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthUnique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency, Journal of Inherited Metabolic Disease, vol.40, 5, 2017,pp 745-747