Browsing by Author Bahlo, Melanie

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Showing results 1 to 11 of 11
Issue DateTitleAuthor(s)Citation
2012Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cellsClarke, Nigel; Hawke, Simon; North, Kathryn; Oates, Emily; Reddel, Stephen; Bahlo, Melanie; Gandolfo, Luke; Lamande, Shireen R.; Rodriguez, Michael L.; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Concord Clinical School: ANZAC Research InstituteAutosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells, Brain: a journal of neurology, vol.135, 6, 2012,pp 1714-1723
2010Deficiency of 5-hydroxyisourate hydrolase causes hepatomegaly and hepatocellular carcinoma in miceGill, Anthony; Stevenson, William; Alexander, Warren S.; Bahlo, Melanie; Hennebry, Sarah; Hilton, Adrienne; Hilton, Douglas J.; Hyland, Craig; Masters, Seth; Metcalf, Donald; Morgan, Phillip; Nicola, Nicos A.; Richardson, S. J.; Roberts, Andrew; Viney, Elizabeth; Wilson, Tracy; Zhang, Jian-Guo; Northern Clinical School: Pathology; Northern Clinical School: MedicineDeficiency of 5-hydroxyisourate hydrolase causes hepatomegaly and hepatocellular carcinoma in mice, Proceedings of the National Academy of Sciences, vol.107, 38,pp 16625-16630
2009Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20Booth, David; Stewart, Graeme; Wiley, James; Bahlo, Melanie; Broadley, Simon; Brown, M. A.; et al, various; Foote, Simon J.; Griffiths, L; Kilpatrick, T J; Lechner-Scott, Jeanette; Moscato, Pablo; Perreau, Victoria; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Westmead Millennium Institute; Nepean Clinical School: MedicineGenome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20, Nature Genetics, vol.41, 7,pp 824-830
2013GFI1B mutation causes a bleeding disorder with abnormal platelet functionChen, Q; Liang, Hai; Morel-Kopp, Marie-Christine; Stevenson, William; Ward, Christopher; Wright, Susan; Bahlo, Melanie; Bromhead, C J; Ng, A P; Roberts, A; Turakulov, R; Northern Clinical School: Kolling Institute; Northern Clinical School: Psychological Medicine; Northern Clinical School: Medicine; Northern Clinical School: Medicine; Northern Clinical School: Kolling Institute; MedicineGFI1B mutation causes a bleeding disorder with abnormal platelet function, Journal of Thrombosis and Haemostasis, vol.11, 11, 2013,pp 2039-2047
2011Identification of improved IL28B SNPs and haplotypes for prediction of drug response in treatment of hepatitis C using massively parallel sequencing in a cross-sectional European cohortAhlenstiel, Golo; Booth, David; George, Jacob; O'Connor, Kate; Stewart, Graeme; Suppiah, Vijayaprakash; Weltman, Martin; Abate, Maria; Bahlo, Melanie; Bassendine, Maragaret; Berg, Thomas; Irving, William; Matthews, Gail V; Powell, Elizabeth E.; Riordan, Stephen; Smith, Katherine; Spengler, Ulrich; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Westmead Millennium Institute; Nepean Clinical School: MedicineIdentification of improved IL28B SNPs and haplotypes for prediction of drug response in treatment of hepatitis C using massively parallel sequencing in a cross-sectional European cohort, Genome Medicine: medicine in the post-genomic era, vol.3, 8, 2011,pp 57-1-57-13
2010Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia-MLASA SyndromeChristodoulou, John; Cooper, Sandra; Bahlo, Melanie; Compton, Alison; Giege, Richard; Hickey, Peter; Lim, Sze Chern; McKenzie, Matthew; Riley, Lisa G.; Rudinger-Thirion, Joelle; Ryan, Michael T; Thorburn, David R.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthMutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia-MLASA Syndrome, American Journal of Human Genetics, vol.87, 1, 2010,pp 52-59
2005A novel X-linked form of congenital fiber-type disproportion.Clarke, Nigel; North, Kathryn; Bahlo, Melanie; Smith, Robert; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthA novel X-linked form of congenital fiber-type disproportion., Annals of Neurology, vol.58,(5),2005,pp 767-772
2010A Polymorphism in the HLA-DPB1 Gene Is Associated with Susceptibility to Multiple SclerosisBooth, David; Gandhi, Kaushal; Heard, Robert; Stewart, Graeme; Bahlo, Melanie; Brown, M. A.; Browning, Sharon R.; Butzkueven, H; Charlesworth, Jac C.; Danoy, Patrick; Field, J; Foote, S J; Johnson, L J; Kilpatrick, Trevor; Rubio, Justin P.; Stankovich, Jim; Tait, Brian D.; Taylor, Bruce V.; The Australia and New Zealand Multiple Sclerosis Genetics Consortium, (ANZgene); Varney, M D; Wiley, James; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Medicine (Westmead); Western Clinical School: Westmead Millennium InstituteA Polymorphism in the HLA-DPB1 Gene Is Associated with Susceptibility to Multiple Sclerosis, PLoS One, vol.5, 10, Article number e13454,pp e13454 - 1-e13454 - 7
2018Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3Sandaradura, Sarah; Sillence, David; Aarts-Tesselaar, Coranne; Bahlo, Melanie; Cameron-Christie, Sophia; Cassina, Matteo; Cordier, Marie-Pierre; Jenkins, Zandra A.; Ludkig, Kathrin; Markie, D; Robertson, Stephen P.; Simon, Marleen; Takei, Riku; Tang, Candy; Trevisson, Eva; Veenstra-Knol, Hermaine; Wei, Wenhua; Wells, Constance; Wessels, Marja; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthRecessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3, American Journal of Human Genetics, vol.102, 6, 2018,pp 1115-1125
2017A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disordersBalasubramaniam, Shanti; Christodoulou, John; Riley, Lisa; Sue, Carolyn; Bahlo, Melanie; Cowley, Mark; Gayevskiy, Velimir; Prelog, Kristina; Roscioli, T; Thorburn, David; Childrens Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: MedicineA SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders, Journal of Inherited Metabolic Disease, vol.40, 2, 2017,pp 261-269
2008SNP mapping and candidate gene sequencing in the class I region of the HLA complex: searching for multiple sclerosis susceptibility genes in TasmaniansBooth, David; Heard, Robert; Stewart, Graeme; Bahlo, Melanie; Burfoot, R K; Butzkueven, H; Field, J; Foote, S J; Jensen, C J; Johnson, L J; Kilpatrick, T.; Rubio, Justin P.; Speed, Terence P.; Stankovich, Jim; Tait, B. D.; Taylor, B.; Varney, M D; Western Clinical School: Westmead Millennium Institute; Behavioural & Comm Hlth Scienc; Western Clinical School: Westmead Millennium InstituteSNP mapping and candidate gene sequencing in the class I region of the HLA complex: searching for multiple sclerosis susceptibility genes in Tasmanians, Tissue Antigens, vol.71,(1),2008,pp 42-50