Browsing by Author Brown, Matthew

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Showing results 1 to 14 of 14
Issue DateTitleAuthor(s)Citation
2015COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?Zankl, Andreas; Bradbury, Linda; Brown, Matthew; Clark, Graeme; Duncan, Emma; Gardiner, Brooke; Harris, J E; Leo, Paul; McInerney-Leo, Aideen; Childrens Hospital Westmead: Paediatrics & Child HealthCOL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?, Clinical Genetics, vol.88, 1, 2015,pp 49-55
2015A comparative analysis of engineering options for adaptation to sea-level rise: a case study for a vulnerable beach in Shoalhaven NSWBrown, Matthew; El Zein, Abbas; Polydoropoulos, Peta; Tonmoy, Fahim N; Civil Engineering; Civil Engineering; Civil EngineeringA comparative analysis of engineering options for adaptation to sea-level rise: a case study for a vulnerable beach in Shoalhaven NSW, MODSIM2015, 21st International Congress on Modelling and Simulation, vol.N/A, 2015, pp. 1503-1509
2015A comparative analysis of engineering options for adaptation to sea-level rise: a case study for a vulnerable beach in Shoalhaven NSWBrown, Matthew; El Zein, Abbas; Polydoropoulos, Peta; Tonmoy, Fahim N; Civil Engineering; Civil Engineering; Civil EngineeringA comparative analysis of engineering options for adaptation to sea-level rise: a case study for a vulnerable beach in Shoalhaven NSW, MODSIM2015, 21st International Congress on Modelling and Simulation, vol.N/A, 2015, pp. 1503-1509
2015A comparative analysis of engineering options for adaptation to sea-level rise: a case study for a vulnerable beach in Shoalhaven NSWBrown, Matthew; El Zein, Abbas; Polydoropoulos, Peta; Tonmoy, Fahim N; Civil Engineering; Civil Engineering; Civil EngineeringA comparative analysis of engineering options for adaptation to sea-level rise: a case study for a vulnerable beach in Shoalhaven NSW, MODSIM2015, 21st International Congress on Modelling and Simulation, vol.N/A, 2015, pp. 1503-1509
2015A comparative analysis of engineering options for adaptation to sea-level rise: a case study for a vulnerable beach in Shoalhaven NSWBrown, Matthew; El Zein, Abbas; Polydoropoulos, Peta; Tonmoy, Fahim N; Civil Engineering; Civil Engineering; Civil EngineeringA comparative analysis of engineering options for adaptation to sea-level rise: a case study for a vulnerable beach in Shoalhaven NSW, MODSIM2015, 21st International Congress on Modelling and Simulation, vol.N/A, 2015, pp. 1503-1509
2015A comparative analysis of engineering options for adaptation to sea-level rise: a case study for a vulnerable beach in Shoalhaven NSWBrown, Matthew; El Zein, Abbas; Polydoropoulos, Peta; Tonmoy, Fahim N; Civil Engineering; Civil Engineering; Civil EngineeringA comparative analysis of engineering options for adaptation to sea-level rise: a case study for a vulnerable beach in Shoalhaven NSW, MODSIM2015, 21st International Congress on Modelling and Simulation, vol.N/A, 2015, pp. 1503-1509
2015A comparative analysis of engineering options for adaptation to sea-level rise: a case study for a vulnerable beach in Shoalhaven NSWBrown, Matthew; El Zein, Abbas; Polydoropoulos, Peta; Tonmoy, Fahim N; Civil Engineering; Civil Engineering; Civil EngineeringA comparative analysis of engineering options for adaptation to sea-level rise: a case study for a vulnerable beach in Shoalhaven NSW, MODSIM2015, 21st International Congress on Modelling and Simulation, vol.N/A, 2015, pp. 1503-1509
2015Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defectsZankl, Andreas; Brown, Matthew; Duncan, Emma; Dunwoodie, Sally; Gardiner, Brooke; Harris, Jessica; Leo, Paul; Marshall, Mhairi; McInerney-Leo, Aideen; O'Reilly, Victoria; Shi, Hongjun; Sparrow, D. B.; Childrens Hospital Westmead: Paediatrics & Child HealthCompound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects, Human Molecular Genetics, vol.24, 5, 2015,pp 1234-1242
2017Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrumZankl, Andreas; Anderson, L; Brown, Matthew; Duncan, Emma; Leo, Paul; Marshall, M; McInerney-Leo, Aideen M; Wheeler, L; Wicking, Carol; Childrens Hospital Westmead: Paediatrics & Child HealthHomozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum, American Journal of Medical Genetics, Part A, vol.173A, 6, 2017,pp 1698-1704
2016Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association StudiesSambrook, Philip; Brown, Matthew; Choi, Hyung Jin; et al, Various; He, Hao; Leo, Paul; Liu, Ning; Niu, Tianhua; Pei, Yu-Fang; Shen, Hui; Yu, Xun; Zhang, Lei; Northern Clinical School: MedicineIdentification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association Studies, Journal of Bone and Mineral Research, vol.31, 2, 2016,pp 358-368
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
2016Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 functionZankl, Andreas; Anderson, Lisa K.; Brown, Matthew; Cortes, Claudio; Duncan, Emma; Harris, Jessica; Keith, Patrick A.; Leo, Paul; McInerney-Leo, Aideen; Ramsing, Mette; Rondon Galeano, Maria C.; Vogel, I; Wicking, Carol; Childrens Hospital Westmead: Paediatrics & Child HealthMutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function, Scientific Reports, vol.6, N/A, 2016,pp 1-10
2016Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 functionZankl, Andreas; Anderson, Lisa K.; Brown, Matthew; Cortes, Claudio; Duncan, Emma; Harris, Jessica; Keith, Patrick A.; Leo, Paul; McInerney-Leo, Aideen; Ramsing, Mette; Rondon Galeano, Maria C.; Vogel, I; Wicking, Carol; Childrens Hospital Westmead: Paediatrics & Child HealthMutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function, Scientific Reports, vol.6, N/A, 2016,pp 1-10
2014Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomasBenn, Diana; Clifton-Bligh, Roderick; Robinson, Bruce; Brown, Matthew; Duncan, Emma; Gardiner, Brooke; Leo, Paul; Marshall, Mhairi; McFarlane, Janelle; McInerney-Leo, Aideen; Northern Clinical School: Kolling Institute; Northern Clinical School: Medicine; Northern Clinical School: MedicineWhole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas, Clinical Endocrinology, vol.80, 1, 2014,pp 25-33