Browsing by Author Biggin, Andrew

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Showing results 1 to 11 of 11
Issue DateTitleAuthor(s)Citation
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
2013Evaluation of bone mineral density and morphology using pQCT in children after spinal cord injuryBiggin, Andrew; Middleton, Anna; Munns, Craig; Ramjan, Kim Ann; Waugh, Mary Clare; Briody, Julie N.; 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 Health; Children's Hospital Westmead: Paediatrics & Child HealthEvaluation of bone mineral density and morphology using pQCT in children after spinal cord injury, Developmental Neurorehabilitation, vol.16, 6, 2013,pp 391-397
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
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
2013Intravenous Zoledronic Acid Given Every 6 Months in Childhood OsteoporosisCowell, Christopher; Munns, Craig; Biggin, Andrew; Briody, Julie; Ooi, Hooi Leng; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthIntravenous Zoledronic Acid Given Every 6 Months in Childhood Osteoporosis, Hormone Research in Paediatrics, vol.80, 3, 2013,pp 179-184
2017Long-Term Bisphosphonate Therapy in Osteogenesis ImperfectaBiggin, Andrew; Munns, Craig; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthLong-Term Bisphosphonate Therapy in Osteogenesis Imperfecta, Current Osteoporosis Reports, vol.15, 5, 2017,pp 412-418
2015The long-term effects of switching from active intravenous bisphosphonate treatment to low-dose maintenance therapy in children with osteogenesis imperfectaBiggin, Andrew; Munns, Craig; Briody, Julie; Coorey, Craig P; Zheng, Linda; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthThe long-term effects of switching from active intravenous bisphosphonate treatment to low-dose maintenance therapy in children with osteogenesis imperfecta, Hormone Research in Paediatrics, vol.83, 3, 2015,pp 183-189
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
2014Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and NephrocalcinosisMunns, Craig; Baluarte, H. Jorge; Biggin, Andrew; Chrysis, Dionisios; Dasgupta, Debayan; et al, Various; Gessner, Michaela; Janner, Marco; Lazier, Joanna; Li, Yuwen; Reyes, Monica; Schlingmann, Karl-Peter; Sharma, Amita; Simm, Peter; Tuchman, Shamir; Wee, Mark J; Childrens Hospital Westmead: Paediatrics & Child HealthMutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis, Journal of the American Society of Nephrology, vol.25, 10, 2014,pp 2366-2375
2014Osteogenesis Imperfecta: Diagnosis and TreatmentMunns, Craig; Biggin, Andrew; Childrens Hospital Westmead: Paediatrics & Child HealthOsteogenesis Imperfecta: Diagnosis and Treatment, Current Osteoporosis Reports, vol.12, 3, 2014,pp 279-288
2015A Practical Approach to Children with Recurrent FracturesMunns, Craig; Biggin, Andrew; Korula, Sophy; Titmuss, Angela T; Childrens Hospital Westmead: Paediatrics & Child HealthA Practical Approach to Children with Recurrent Fractures, Endocrine Development, vol.28, N/A, 2015,pp 210-225