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Showing results 1 to 14 of 14
Issue DateTitleAuthor(s)Citation
2008Brain involvement in muscular dystrophies with defective dystroglycan glycosylationNorth, Kathryn; Smith, Janine; Bushby, Kate; Clement, Emma; Cowan, F M; et al, Not Known; Godfrey, Caroline; Kinali, Maria; Manzur, Adnan; Mercuri, Eugenio; Robb, Stephanie; Straub, Volker; Talim, Beril; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsBrain involvement in muscular dystrophies with defective dystroglycan glycosylation, Annals of Neurology, vol.64,(5),2008,pp 573-582
2008A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL)Mann, Graham; Badenase, Celia; Bergman, Wilma; et al, Not Known; Goldstein, Alisa M; Gruis, Nelleke; Harland, Mark; Hayward, Nicholas; Hogg, David; Kukalizch, Kairen; Puig, Susana; Taylor, Claire F; ter Huurnef, Jeanet; Western Clinical School: Westmead Millennium InstituteA comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL), European Journal of Cancer, vol.44,(9),2008,pp 1269-1274
2009Correcting for multivariate measurement error by regression calibration in meta-analyses of epidemiological studiesTofler, Geoffrey; Benderly, M; et al, Not Known; Goldbourt, U; Kostis, John; Thompson, S. G.; White, I R; Willeit, J; Wilson, A C; Wood, A M; Wu, K; Northern Clinical School: MedicineCorrecting for multivariate measurement error by regression calibration in meta-analyses of epidemiological studies, Statistics in Medicine, vol.28,(7),2009,pp 1067-1092
2008DYRK1A-Dosage Imbalance Perturbs NRSF/REST Levels, Deregulating Pluripotency and Embryonic Stem Cell Fate in Down SyndromeDenyer, Gareth; Borel, Christelle; Canzonetta, Claudia; Delom, Frederic; Deutsch, Samuel; et al, Not Known; Groet, Jurgen; Lin-Marq, Nathalie; Lyle, Robert; Mulligan, Claire; O’Doherty, Aideen; Ruf, Sandra; Molecular & Microbial BioscienDYRK1A-Dosage Imbalance Perturbs NRSF/REST Levels, Deregulating Pluripotency and Embryonic Stem Cell Fate in Down Syndrome, American Journal of Human Genetics, vol.83,(3),2008,pp 388-400
2008The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD studyCorbett, Alastair; Nicholson, Garth; et al, Not Known; Golbe, Lawrence I.; Growdon, J; Klein, Christine; Latourelle, J.C.; Lew, M.; Mark, Margery H.; Suchowersky, Oksana; Sun, Mei; Watts, Ray L; Wooten, Frederick; Concord Clinical School: Medicine; Concord Clinical School: ANZAC Research InstituteThe Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study, B M C Medicine, vol.6,(32),2008,pp 32-1-32-7
2008Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD studyCorbett, Alastair; Nicholson, Garth; et al, Not Known; Golbe, Lawrence I.; Growdon, J; Klein, Christine; Latourelle, J.C.; Lew, M.; MacDonald, M E; Mark, Margery H.; McNicoll, Christopher F; Suchowersky, Oksana; Wooten, G. F.; Concord Clinical School: Medicine; Concord Clinical School: ANZAC Research InstituteHuntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study, Movement Disorders, vol.23,(11),2008,pp 1596-1601
2009IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress ResponseFischer, Gayle; Betz, Regina C.; Boente, Maria del Carmen; Bornholdt, Dorothea; et al, Not Known; Happle, Rudolf; Konig, Arne; Neidel, Ulrike; Oeffner, Frank; Redler, Silke; Romero-Gomez, Javier; Salhi, Aicha; Northern Clinical School: MedicineIFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response, American Journal of Human Genetics, vol.84,(4),2009,pp 459-467
2009Integrated Genome-Wide DNA Copy Number and Expression Analysis Identifies DistinctMechanisms of Primary Chemoresistance in Ovarian CarcinomasChiew, Y; Defazio, Anna; Harnett, Paul; Beroukhim, Rameen; et al, Not Known; Etemadmoghadam, Dariush; George, Joshy; Getz, Gad; Late, Stephen; Mermel, Craig; Okamoto, Aikou; Raeder, Maria B.; Tothill, Richard W.; Western Clinical School: Medicine (Westmead); Western Clinical School: Westmead Millennium Institute; Western Clinical School: Medicine (Westmead)Integrated Genome-Wide DNA Copy Number and Expression Analysis Identifies DistinctMechanisms of Primary Chemoresistance in Ovarian Carcinomas, Clinical Cancer Research, vol.15,(4),2009,pp 1417-1427
2009Measures to assess the prognostic ability of the stratified Cox proportional hazards modelTofler, Geoffrey; Benderly, M; Chambless, Lloyd; et al, Not Known; Folsom, A R; Kaptoge, S.; Kostis, John; Pennells, L; Sarwar, N; White, I R; Wilson, A C; Wood, A M; Northern Clinical School: MedicineMeasures to assess the prognostic ability of the stratified Cox proportional hazards model, Statistics in Medicine, vol.28,(N/A),2009,pp 389-411
2008De novo LMNA mutations cause a new form of congenital muscular dystrophyClarke, Nigel; Bonnemann, Carsten G; Colomer, Jaume; Cuisset, Jean-Marie; D’Amico, Adele; et al, Not Known; Jeannet, Pierre-Yves; Mbieleu, Blaise; Meirleir, Linda de; Quijano-Roy, Susana; Roper, John; Yaou, Rabah Ben; Children's Hospital Westmead: Paediatrics & Child HealthDe novo LMNA mutations cause a new form of congenital muscular dystrophy, Annals of Neurology, vol.64,(2),2008,pp 177-186
2008Observation of a New DsJ Meson in B+→ D0D0K+ DecaysBakich, Andrew; McOnie, Samuel; Yabsley, Bruce; Adachi, I; Aihara, H; Aulchenko, V; Barberio, E; Bay, A; Bedny, I; Bitenc, U; Bondar,, A; Brodzicka, J; et al, Not Known; Palka, H; Physics; Physics; PhysicsObservation of a New DsJ Meson in B+→ D0D0K+ Decays, Physical Review Letters, vol.100,(9),2008,pp 092001-1-092001-6
2008Replication of association between ELAVL4 and Parkinson disease: the GenePD studyCorbett, Alastair; Nicholson, Garth; DeStefano, Anita; et al, Not Known; Golbe, L. I.; Growdon, J; Klein, Christine; Latourelle, J.C.; Lew, M.; Mark, Margery H.; Suchowersky, Oksana; Watts, Ray L; Wooten, G. F.; Concord Clinical School: Medicine; Concord Clinical School: ANZAC Research InstituteReplication of association between ELAVL4 and Parkinson disease: the GenePD study, Human Genetics, vol.124,(1),2008,pp 95-99
2009Systematically missing confounders in individual participant data meta-analysis of observational cohort studiesTofler, Geoffrey; Benderly, M; Chambless, Lloyd; et al, Not Known; Folsom, A R; Goldbourt, U; Jackson, Dan; Kostis, John; White, I R; Willeit, J; Wilson, A C; Yarnell, W G; Northern Clinical School: MedicineSystematically missing confounders in individual participant data meta-analysis of observational cohort studies, Statistics in Medicine, vol.28,(1218),2009,pp 1237-N/A
2008The third international stroke trial (IST-3) of thrombolysis for acute ischaemic strokeLindley, Richard; Berge, Eivind; Czlonkowska, Anna; Dennis, Martin S.; et al, Not Known; Kobayashi, Adam; Lewis, Steff; Murray, Veronica; Sandercock, Peter A G; Slot, Karsten Bruins; Venables, Graham; Wardlaw, Joanna; Western Clinical School: Medicine (Westmead)The third international stroke trial (IST-3) of thrombolysis for acute ischaemic stroke, Trials, vol.9,(37),2008,pp 37-1-37-17