Browsing by Author Bennetts, Bruce

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Issue DateTitleAuthor(s)Citation
2006FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.Ades, Lesley; Bennetts, Bruce; Biggin, Andrew; Brett, M; Holman, K; Sullivan, K; Dixon, J; Haan, Eric; Holmes, A. D.; Robertson, Stephen P.; Rogers, J.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Medicine; Western Clinical School: Medicine (Westmead); Western Clinical School: Medicine (Westmead); Western Clinical School: Medicine (Westmead)FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited., American journal of medical genetics Part A, vol.140,(10),2006,pp 1047-1058
2003Gene-gene interaction between the monoamine oxidase A gene and solute carrier family 6 (neurotransmitter transporter, noradrenalin) member 2 gene in anorexia nervose (restrictive subtype)Bennetts, Bruce; Beumont, Pierre; Nunn, Kenneth; Russell, Janice; Urwin, R; Wilcken, Bridget; Lampropoulos, Basiliki; 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 HealthGene-gene interaction between the monoamine oxidase A gene and solute carrier family 6 (neurotransmitter transporter, noradrenalin) member 2 gene in anorexia nervose (restrictive subtype), European Journal of Human Genetics, vol.11,(12),2003,pp 945-950
2002A genome screen for linkage in Australian sibling-pairs with multiple sclerosisBan, M; Bennetts, Bruce; Heard, Robert; Stewart, Gregory; Compston, A; Maranian, M; Sawcer, S J; Simmons, R; Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Behavioural & Comm Hlth Scienc; School of Public Health: Public HealthA genome screen for linkage in Australian sibling-pairs with multiple sclerosis, Genes and Immunity, vol.3,(8),2002,pp 464-469
2003A genome-wide screen for linkage disequilibrium in Australian HLA-DRB1*1501 positive multiple sclerosis patientsAdams, Susan; Ban, M; Bennetts, Bruce; Booth, David; Heard, Robert; Perich, V; Stewart, Gregory; Compston, A; Sawcer, S. J.; Setakis, E.; School of Medical Sciences: Anatomy & Histology; Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Medicine (Westmead); Medicine; School of Public Health: Public HealthA genome-wide screen for linkage disequilibrium in Australian HLA-DRB1*1501 positive multiple sclerosis patients, Journal of Neuroimmunology, vol.143,(1-2),2003,pp 60-64
2003Identification of 11 novel and common single nucleotide polymorphisms in the interleukin-7 receptor-alpha gene and their associations with multiple sclerosisBennetts, Bruce; Booth, David; Heard, Robert; Stewart, Gregory; Teutsch, S; Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Medicine (Westmead); School of Public Health: Public Health; Western Clinical School: Medicine (Westmead)Identification of 11 novel and common single nucleotide polymorphisms in the interleukin-7 receptor-alpha gene and their associations with multiple sclerosis, European Journal of Human Genetics, vol.11,(7),2003,pp 509-515
2009Inherited Surfactant Deficiency Caused by Uniparental Disomy of Rare Mutations in the Surfactant Protein-B and ATP Binding Cassette,Subfamily A, Member 3 GenesBennetts, Bruce; Christodoulou, John; Carroll, Travis; DePass, Kelcey; Deterding, Robin; Gray, P. H.; Hamvas, Aaron; McQuade, Leon; Nogee, Lawrence; Wegner, Daniel; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthInherited Surfactant Deficiency Caused by Uniparental Disomy of Rare Mutations in the Surfactant Protein-B and ATP Binding Cassette,Subfamily A, Member 3 Genes, The Journal of Pediatrics, vol.155, 6,pp 854-859
2003Investigation of epistasis between the serotonin transporter and norepinephrine transproter genes in anorexia nervosaBennetts, Bruce; Beumont, Pierre; Nunn, Kenneth; Russell, Janice; Urwin, R; Wilcken, Bridget; 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 HealthInvestigation of epistasis between the serotonin transporter and norepinephrine transproter genes in anorexia nervosa, Neuropsychopharmacology, vol.28,(7),2003,pp 1351-1355
2005An investigation of NOS2A promoter polymorphisms in Australian multiple sclerosis patients.Bennetts, Bruce; Booth, David; Bugeja, Matthew; Heard, Robert; Stewart, Graeme; Burgner, David; Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Westmead Millennium Institute; Central Clinical School: Medicine; Western Clinical School: Medicine (Westmead); Western Clinical School: Westmead Millennium InstituteAn investigation of NOS2A promoter polymorphisms in Australian multiple sclerosis patients., European Journal of Human Genetics, vol.13,(7),2005,pp 815-822
2006An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians.Bennetts, Bruce; Booth, David; Bugeja, Matthew; Heard, Robert; Stewart, Graeme; Rubio, Justin; Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Westmead Millennium Institute; Central Clinical School: Medicine; Western Clinical School: Medicine (Westmead); Western Clinical School: Westmead Millennium InstituteAn investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians., BMC Medical Genetics, vol.7,(N/A),2006,pp 64-64
2006An investigation of polymorphisms in the 4q1 3.3-21.1 CXC chemokine gene cluster for association with multiple sclerosis in Australians.Bennetts, Bruce; Booth, David; Bugeja, Matthew; Heard, Robert; Stewart, Graeme; Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Westmead Millennium Institute; Central Clinical School: Medicine; Western Clinical School: Medicine (Westmead); Western Clinical School: Westmead Millennium InstituteAn investigation of polymorphisms in the 4q1 3.3-21.1 CXC chemokine gene cluster for association with multiple sclerosis in Australians., Multiple Sclerosis, vol.12,(6),2006,pp 710-722
2011Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspringBennetts, Bruce; Jamieson, Robyn; Storen, Rebecca; Savarirayan, Ravi; Stark, Zornitza; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Clinical Ophthal & Eye HealthIsolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring, European Journal of Human Genetics, vol.19, 72, 2011,pp 753-756
2017Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disordersAlexander, Stephen; Bennetts, Bruce; Mallawaarachchi, Amali; McCarthy, Hugh; Farnsworth, Elizabeth; Fletcher, Jeffery T.; Ho, Gladys; Holman, katherine; Mallett, Andrew; Patel, Chirag; Quinlan, Catherine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Medicine; Childrens Hospital Westmead: Paediatrics & Child HealthMassively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders, Kidney International, vol.92, 6, 2017,pp 1493-1506
2013Maternal attitudes to newborn screening for fragile X syndromeBennetts, Bruce; Wiley, Veronica; Boyle, Jackie; Christie, Louise; Field, Michael; Goel, Himanshu; Hansen, Jessica; Hunter, Matthew; Rogers, Carolyn; Turner, Catherine; Wilcken, Bridget; Wotton, Tiffany; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthMaternal attitudes to newborn screening for fragile X syndrome, American Journal of Medical Genetics. Part A, vol.161A, 2, 2013,pp 301-311
2006Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.Bennetts, Bruce; Carpenter, Kevin; Wilcken, Bridget; Wiley, Veronica; Andresen, Brage S.; Angel, Lyn; Waddell, Leigh; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthMedium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations., Molecular Genetics and Metabolism (2005), vol.87,(1),2006,pp 32-39
2005Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography.Bennetts, Bruce; Christodoulou, John; Biggin, Andrew; Henke, Robert; Thorburn, David R.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthMutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography., Molecular Genetics and Metabolism (2005), vol.84,(1),2005,pp 61-74
2004Mutations Of Cdkl5 Cause A Severe Neurodevelopmental Disorder With Infantile Spasms And Mental Retardation.Bennetts, Bruce; Christodoulou, John; Ellaway, Carolyn; Lahooti, Hooshang; Pelka, G; Tam, Patrick; Watson, Catherine; Weaving, Linda; Williamson, Susan; Archer, Hayley; Clarke, Angus; Evans, Julie; Friend, Kathie L; Gecz, Jozef; Leonard, Helen; McKenzie, Olivia L D; 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; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child Health; Medicine Faculty OfficeMutations Of Cdkl5 Cause A Severe Neurodevelopmental Disorder With Infantile Spasms And Mental Retardation., American Journal of Human Genetics, vol.75,(N/A),2004,pp 1079-1093
2004A Novel Splice-Site Mutation In The Common Gamma Chain (Gammac) Gene Il2Rg Results In X-Linked Severe Combined Immunodeficiency With An Atypical Nk+ Phenotype.Alexander, Ian; Bennetts, Bruce; Ginn, S; Rowe, Peter; Smyth, Christine; Wong, Melanie; 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: Childrens Medical Research InsA Novel Splice-Site Mutation In The Common Gamma Chain (Gammac) Gene Il2Rg Results In X-Linked Severe Combined Immunodeficiency With An Atypical Nk+ Phenotype., Human Mutation, vol.23,(5),2004,pp 522-523
2005OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria.Bennetts, Bruce; Christodoulou, John; Baric, I.; Carpenter, K.; Kelley, R.; Kirk, E. P. E.; Neas, K.; White, R.; Wilson, Meredith; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthOPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria., Journal of inherited metabolic disease, vol.28,(4),2005,pp 525-532
2002Paraoxonase gene cluster is a genetic marker for early microvascular complications in Type 1 diabetesBennetts, Bruce; Donaghue, Kim; Knight, John; Silink, Martin; Chan, Albert K.F.; Kao, Y.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Medicine; Children's Hospital Westmead: Paediatrics & Child HealthParaoxonase gene cluster is a genetic marker for early microvascular complications in Type 1 diabetes, Diabetic medicine: a journal of the British Diabetic Association, vol.19,(3),2002,pp 212-215
2014Quality standards for DNA sequence variation databases to improve clinical management under development in AustraliaBennetts, Bruce; Caramins, Melody; Cotton, Richard; Hsu, Arthur; Lau, Chiyan; Mead, Scott; Meldrum, Cliff J.; Smith, Timothy; Suthers, G.; Taylor, Graham; Tyrrell, Vanessa; Childrens Hospital Westmead: Paediatrics & Child HealthQuality standards for DNA sequence variation databases to improve clinical management under development in Australia, Applied and Translational Genomics, vol.3, 3, 2014,pp 54-57