Browsing by Author Bennetts, Bruce

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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 The Ccl3-L1 Gene For Association With Hiv-1 Susceptibility And Disease Progression.Bennetts, Bruce; Bugeja, Matthew; Stewart, Graeme; Booth, David R; Guerin, Jan; Kaldor, John M; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Medicine; Western Clinical School: Westmead Millennium InstituteAnalysis Of The Ccl3-L1 Gene For Association With Hiv-1 Susceptibility And Disease Progression., AIDS, vol.18,(7),2004,pp 1069-1071
2002Anorexia nervosa (restrictive subtype) is associated with a polymorphism in the novel noreprinephrine transporter gene promoter polymorphic regionBennetts, Bruce; Beumont, Pierre; Nunn, Kenneth; Russell, Janice; Urwin, R; Wilcken, Bridget; Clarke, S; Lampropolous, B; Tanner, S; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Psychological Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Psychological Medicine; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child HealthAnorexia nervosa (restrictive subtype) is associated with a polymorphism in the novel noreprinephrine transporter gene promoter polymorphic region, Molecular Psychiatry, vol.7,(6),2002,pp 652-657
2001The application of a PCR technique for the detection of immunoglobulin heavy chain gene rearrangements in fresh or paraffin-embedded skin tissue.Bennetts, Bruce; Benson, Elizabeth; Jaworski, Rickard; Angulo,, R; Fox, S; Hughes, J; Jolles, S; Kossard,, S; Prasad, M; Weston, S; Children's Hospital Westmead: Paediatrics & Child Health; Medicine; MedicineThe application of a PCR technique for the detection of immunoglobulin heavy chain gene rearrangements in fresh or paraffin-embedded skin tissue., Pathology, vol.33, N/A,pp 222-225
2008Association Between p.Leu54Met Polymorphism at the Paraoxonase-1 Gene and Plantar Fascia Thickness in Young Subjects With Type 1 DiabetesBennetts, Bruce; Craig, Maria; Donaghue, Kim; Lam, Albert; Duffin, A; Gallego, Patricia H; Hofer, Sabine; Jenkins, Alicia J.; 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 HealthAssociation Between p.Leu54Met Polymorphism at the Paraoxonase-1 Gene and Plantar Fascia Thickness in Young Subjects With Type 1 Diabetes, Diabetes Care, vol.31, 8, 2008,pp 1585-1589
2006Association between PON 1 polymorphisms, PON activity and diabetes complications.Bennetts, Bruce; Chan, Albert; Donaghue, Kim; Hofer, Sabine; Holloway, Bethwyn; Silink, Martin; Jenkins, Alicia J.; Karschimkus, Connie; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Nepean Clinical School: Medicine; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Paediatrics & Child HealthAssociation between PON 1 polymorphisms, PON activity and diabetes complications., Journal of Diabetes and Its Complications, vol.20,(5),2006,pp 322-328
2005The association of aldose reductase gene (AKR1B1) polymorphisms with diabetic neuropathy in adolescentsBennetts, Bruce; Donaghue, Kim; Silink, Martin; Chan, Albert K.F.; Holloway, B.; Margan, S. H.; Rangel, T.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthThe association of aldose reductase gene (AKR1B1) polymorphisms with diabetic neuropathy in adolescents, Diabetic Medicine: 2005 Diabetes UK, vol.22,(10),2005,pp 1315-1320
2004Association Of Common T Cell Activation Gene Polymorphisms With Multiple Sclerosis In Australian Patients.Bennetts, Bruce; Heard, Robert; Stewart, Graeme; Teutsch, S; Booth, David Richmond; Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead); Western Clinical School: Westmead Millennium Institute; Western Clinical School: Medicine (Westmead)Association Of Common T Cell Activation Gene Polymorphisms With Multiple Sclerosis In Australian Patients., Journal of Neuroimmunology, vol.148,(2),2004,pp 218-30-N/A
2015Autosomal recessive transmission of TRAPS in a family with a novel TNFRSF1A mutationBennetts, Bruce; D'Orsogna, Lloyd; Jackson, J; Mallon, D; Whidborne, R; Wong, K; Childrens Hospital Westmead: Paediatrics & Child HealthAutosomal recessive transmission of TRAPS in a family with a novel TNFRSF1A mutation, Scandinavian Journal of Rheumatology, vol.44, 3, 2015,pp 255-256
2002CCR5 Genotyping in an Australian and New Zealand type 1 Diabetes CohortBadhwar, Prerna; Bennetts, Bruce; Buhler, M M; Craig, Maria; Manolios, Nicholas; Silink, Martin; Stewart, Gregory; Donaghue, K. C.; Tait, B. D.; Willis, J.; Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Concord Clinical School: Age & Alzh Dis Rrch Educ; Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Paediatrics & Child Health; School of Public Health: Public HealthCCR5 Genotyping in an Australian and New Zealand type 1 Diabetes Cohort, Autoimmunity, vol.65, 7,pp 457-461
2017Childhood interstitial lung diseases in immunocompetent children in Australia and New Zealand: A decade's experienceBennetts, Bruce; Hime, Neil; Phu, Amy; Selvadurai, Hiran; Zurynski, Yvonne; Beggs, Sean A.; Harrison, Jo; Jaffe, Adam; Kapur, Nitin; Lipsett, Jill; Nogee, Lawrence; Saddi, Vishal; Schultz, Andre; Sherrard, Stephanie; Strachan, R; Suresh, S; Vyas, Julian R.; Childrens Hospital Westmead: Paediatrics & Child Health; School of Medical Sciences: Pathology; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthChildhood interstitial lung diseases in immunocompetent children in Australia and New Zealand: A decade's experience, Orphanet Journal of Rare Diseases, vol.12, 1, 2017,pp 1-9
2010Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiencyBennetts, Bruce; Ellaway, Carolyn; Peters, Gregory; Wilcken, Bridget; Balasubramaniam, S; Rudduck, Christina; 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 HealthContiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency, Molecular Genetics and Metabolism, vol.99, 1,pp 34-41
2010Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related DisordersBennetts, Bruce; Christodoulou, John; Cloosterman, Desiree; Ellaway, Carolyn; Ho, Gladys; White, Rose; Bienvenu, Thierry; Cox, Timothy; Darmanian, Artur; Fischer, Alexandra; Fullston, Tod; Gecz, Jozef; Kalra, Veena; Nectoux, Juliette; Scheffer, Ingrid; Schmidt, Swetlana; Tong, Xing Zhang; Yendle, Simone; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Paediatrics & Child Health; Biological Sciences; Central Clinical School: OfficeCyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders, Twin Research and Human Genetics, vol.13, 2,pp 168-178
2006Decline in Neurophysiological Function After 7 Years in an Adolescent Diabetic Cohort and the Role of Aldose Reductase Gene Polymorphisms.Bennetts, Bruce; Chan, Albert; Craig, Maria; Cusumano, Janine; Donaghue, Kim; Silink, Martin; Thamotharampillai, Keerthi; Oates, Peter J.; 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: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthDecline in Neurophysiological Function After 7 Years in an Adolescent Diabetic Cohort and the Role of Aldose Reductase Gene Polymorphisms., Diabetes Care, vol.29,(9),2006,pp 2053-2057
2007Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male probandBennetts, Bruce; Christodoulou, John; Slater, Katrina; Vasudevan, V; Williamson, Sarah; Bebbinton, Ami; Cloosterman, Desiree; Donald, Jennifer; Hardwick, Simon A; Leonard, Helen; Reuter, Kirsten; Smith, Robert; Williams, Simon R.; 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: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child HealthDelineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband, European Journal of Human Genetics (2005), vol.15,(12),2007,pp 1218-1229
2004Detection Of Thirty Novel FBN1 Mutations In Patients With Marfan Syndrome Or A Related Fibrillinopathy.Ades, Lesley; Bennetts, Bruce; Biggin, Andrew; Brett, Maggie S.; Holman, Katerine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthDetection Of Thirty Novel FBN1 Mutations In Patients With Marfan Syndrome Or A Related Fibrillinopathy., Human Mutation, vol.23,(1),2004,pp 99-106
2018Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathyArdern-Holmes, Simone; Bennetts, Bruce; Dale, Russell; Gill, Deepak; Ho, Gladys; Kothur, Kavitha; Lorentzos, Michelle; Menezes, Manoj; Procopis, Peter; Webster, Richard; Anthony, Jayne; Christodoulou, John; Farnsworth, Elizabeth; Gupta, Sachin; Holman, katherine; Troedson, Chris; Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Westmead Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthDiagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy, Seizure, vol.59, N/A, 2018,pp 132-140
2004Ectopia Lentis Phenotypes And The Fbn1 GeneAdes, Lesley; Bennetts, Bruce; Brett, Maggie S.; Edwards, Matthew J.; Holman, Katherine J.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthEctopia Lentis Phenotypes And The Fbn1 Gene, American journal of medical genetics Part A, vol.126A,(3),2004,pp 284-289
2003Effects of MECP2 mutation type, location and X-inactivation in modulating Rett Syndrome phenotypeBennetts, Bruce; Christodoulou, John; Ellaway, Carolyn; Weaving, Linda; Davis, Mark; Delatycki, Martin; Laing, Nigel G.; Leonard, Helen; Thompson, Elizabeth M.; Thong, Meow-Keong; Williamson, Sarah L; 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 HealthEffects of MECP2 mutation type, location and X-inactivation in modulating Rett Syndrome phenotype, American Journal of Medical Genetics Part A, vol.118A,(N/A),2003,pp 103-114
2007Fatal late-onset ornithine transcarbamylase deficiency after coronary artery bypass surgeryBennetts, Bruce; Chiong, Mary; Strasser, Simone; Wilcken, Bridget; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Central Clinical School: AW Morrow Gastroenterology and Liv; Children's Hospital Westmead: Paediatrics & Child HealthFatal late-onset ornithine transcarbamylase deficiency after coronary artery bypass surgery, Medical Journal of Australia, vol.186,(8),2007,pp 418-419