BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiency.

Autor: Lynn AM, King RI, Mackay RJ, Florkowski CM, Wilson CJ

Publikováno v: Annals of Clinical Biochemistry; Mar2012, Vol. 49 Issue 2, p201-203, 3p

Association of Clinical Characteristics With Familial Hypercholesterolaemia Variants in a Lipid Clinic Setting: A Case-Control Study.

Autor: Li BV; Te Whatu Ora - Health New Zealand Waitaha Canterbury, Christchurch, New Zealand.; Specialist Biochemistry, Canterbury Health Laboratories, Christchurch, New Zealand., Laurie AD; Te Whatu Ora - Health New Zealand Waitaha Canterbury, Christchurch, New Zealand.; Molecular Pathology, Canterbury Health Laboratories, Christchurch, New Zealand., Reid NJ; Te Whatu Ora - Health New Zealand Waitaha Canterbury, Christchurch, New Zealand.; Lipid Clinic, Christchurch Hospital, Christchurch, New Zealand., Leath MA; Te Whatu Ora - Health New Zealand Waitaha Canterbury, Christchurch, New Zealand.; Lipid Clinic, Christchurch Hospital, Christchurch, New Zealand., King RI; Te Whatu Ora - Health New Zealand Waitaha Canterbury, Christchurch, New Zealand.; Specialist Biochemistry, Canterbury Health Laboratories, Christchurch, New Zealand.; Molecular Pathology, Canterbury Health Laboratories, Christchurch, New Zealand., Chan HK; Te Whatu Ora - Health New Zealand Waitaha Canterbury, Christchurch, New Zealand.; Lipid Clinic, Christchurch Hospital, Christchurch, New Zealand., Florkowski CM; Te Whatu Ora - Health New Zealand Waitaha Canterbury, Christchurch, New Zealand.; Specialist Biochemistry, Canterbury Health Laboratories, Christchurch, New Zealand.; Lipid Clinic, Christchurch Hospital, Christchurch, New Zealand.

Publikováno v: Journal of lipid and atherosclerosis [J Lipid Atheroscler] 2024 Jan; Vol. 13 (1), pp. 29-40. Date of Electronic Publication: 2023 Oct 26.

Grossly Elevated False-Positive High-Sensitivity Troponin I Due to Heterophilic Antimouse IgG1 Antibodies.

Autor: Lewis JG, Connolly AJL; Endocrinology and Steroid Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand., Ploeg H; Endocrinology and Steroid Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand., Phillips IJ; Endocrinology and Steroid Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand., King RI; Endocrinology and Steroid Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand., Elder PA; Endocrinology and Steroid Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand., Florkowski CM; Endocrinology and Steroid Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand.

Publikováno v: The journal of applied laboratory medicine [J Appl Lab Med] 2020 Jul 01; Vol. 5 (4), pp. 815-817.

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Autor: Eggers S; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.; Victorian Clinical Genetic Services, Melbourne, VIC, Australia., Sadedin S; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., van den Bergen JA; Murdoch Childrens Research Institute, Melbourne, VIC, Australia., Robevska G; Murdoch Childrens Research Institute, Melbourne, VIC, Australia., Ohnesorg T; Murdoch Childrens Research Institute, Melbourne, VIC, Australia., Hewitt J; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.; University of Melbourne, School of Bioscience, Melbourne, VIC, Australia.; Department Of Paediatric Urology, Monash Children's Hospital, Clayton, VIC, Australia., Lambeth L; Murdoch Childrens Research Institute, Melbourne, VIC, Australia., Bouty A; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.; The Royal Children's Hospital Melbourne, Melbourne, VIC, Australia., Knarston IM; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Tan TY; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; The Royal Children's Hospital Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetic Services, Melbourne, VIC, Australia., Cameron F; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.; The Royal Children's Hospital Melbourne, Melbourne, VIC, Australia., Werther G; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.; The Royal Children's Hospital Melbourne, Melbourne, VIC, Australia., Hutson J; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., O'Connell M; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.; The Royal Children's Hospital Melbourne, Melbourne, VIC, Australia., Grover SR; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; The Royal Children's Hospital Melbourne, Melbourne, VIC, Australia., Heloury Y; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.; The Royal Children's Hospital Melbourne, Melbourne, VIC, Australia., Zacharin M; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.; The Royal Children's Hospital Melbourne, Melbourne, VIC, Australia., Bergman P; Department of Paediatric Endocrinology and Diabetes, Monash Children's Hospital, Clayton, VIC, Australia.; Monash Medical Centre, Clayton, VIC, Australia., Kimber C; Monash Children's Hospital, Clayton, VIC, Australia., Brown J; Department of Paediatric Endocrinology and Diabetes, Monash Children's Hospital, Clayton, VIC, Australia.; Department of Paediatrics, Monash University, Clayton, VIC, Australia., Webb N; Department Of Paediatric Urology, Monash Children's Hospital, Clayton, VIC, Australia., Hunter MF; Department of Paediatrics, Monash University, Clayton, VIC, Australia.; Monash Genetics, Monash Health, Clayton, VIC, Australia., Srinivasan S; The Children's Hospital at Westmead, Institute of Endocrinology and Diabetes, Westmead, NSW, Australia., Titmuss A; The Children's Hospital at Westmead, Institute of Endocrinology and Diabetes, Westmead, NSW, Australia., Verge CF; Sydney Children's Hospital, Randwick, NSW, Australia.; School of Women's and Children's Health, UNSW, Sydney, NSW, Australia., Mowat D; Department of Medical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia., Smith G; Urology and Clinical Programs, The Children's Hospital at Westmead, Westmead, NSW, Australia.; The University of Sydney, Westmead, NSW, Australia., Smith J; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, NSW, Australia., Ewans L; Department of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, NSW, Australia.; Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW, Australia., Shalhoub C; Department of Medical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia., Crock P; John Hunter Children's Hospital, New Lambton Heights, NSW, Australia., Cowell C; The Children's Hospital at Westmead, Institute of Endocrinology and Diabetes, Westmead, NSW, Australia., Leong GM; Department of Paediatric Endocrinology and Diabetes, Lady Cilento Children's Hospital, Brisbane, QLD, Australia., Ono M; Department of Paediatrics, Tokyo Bay Medical Centre, Tokyo, Chiba, Japan., Lafferty AR; Centenary Hospital for Women and Children, Canberra, ACT, Australia.; ANU Medical School, Canberra, ACT, Australia., Huynh T; Department of Paediatric Endocrinology and Diabetes, Lady Cilento Children's Hospital, Brisbane, QLD, Australia., Visser U; Sydney Children's Hospital, Randwick, NSW, Australia., Choong CS; Department of Endocrinology and Diabetes, Princess Margaret Hospital, Subiaco, WA, Australia.; School of Paediatrics and Child Health, The University of Western Australia, Crawley, WA, Australia., McKenzie F; School of Paediatrics and Child Health, The University of Western Australia, Crawley, WA, Australia.; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia., Pachter N; School of Paediatrics and Child Health, The University of Western Australia, Crawley, WA, Australia.; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia., Thompson EM; SA Clinical Genetics Service, SA Pathology at the Women's and Children's Hospital, North Adelaide, SA, Australia.; School of Medicine, University of Adelaide, North Terrace, Adelaide, SA, Australia., Couper J; Women's and Children's Hospital and Robinson Research Institute, University of Adelaide, Adelaide, SA, Australia., Baxendale A; SA Clinical Genetics Service, SA Pathology at the Women's and Children's Hospital, North Adelaide, SA, Australia., Gecz J; School of Medicine and The Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.; South Australian Health and Medical Research Institute, Adelaide, SA, Australia., Wheeler BJ; Department of Women's and Children's Health, University of Otago, Dunedin, New Zealand., Jefferies C; Diabetes and Endocrinology, Auckland District Health Board, Auckland, New Zealand., MacKenzie K; Christchurch Hospital, Christchurch, New Zealand., Hofman P; Liggins Institute, University of Auckland, Auckland, New Zealand., Carter P; Starship Paediatric Diabetes and Endocrinology, Auckland, New Zealand., King RI; Canterbury Health Laboratories, Christchurch, Canterbury, New Zealand., Krausz C; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', University of Florence, Florence, Italy., van Ravenswaaij-Arts CM; University of Groningen, University Medical Centre Groningen, Groningen, Netherlands., Looijenga L; Department of Pathology, Josephine Nefkens Institute, Erasmus University Medical Centre, Rotterdam, Netherlands., Drop S; Department of Paediatrics, Division of Endocrinology, Sophia Children's Hospital, Erasmus University Medical Centre, Rotterdam, Netherlands., Riedl S; St Anna Children's Hospital, Vienna, Austria.; Paediatric Department, Medical University of Vienna, Vienna, Austria., Cools M; Department of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium., Dawson A; Genomic Laboratory, Diagnostic Services of Manitoba and Genetics & Metabolism Program, WRHA, Winnipeg, MB, Canada.; Department Biochemistry & Medical Genetics and Paediatrics & Child Health, University of Manitoba, Winnipeg, MB, Canada., Juniarto AZ; Division of Human Genetics, Centre for Biomedical Research Faculty of Medicine Diponegoro University (FMDU), Semarang, Indonesia., Khadilkar V; Growth and Pediatric Endocrine Clinic, Hirabai Cowasji Jehangir Medical Research Institute, Pune, India.; Hirabai Cowasji Jehangir Medical Research Institute, Pune, India., Khadilkar A; Growth and Pediatric Endocrine Clinic, Hirabai Cowasji Jehangir Medical Research Institute, Pune, India.; Hirabai Cowasji Jehangir Medical Research Institute, Pune, India., Bhatia V; Department of Endocrinology Sanjay Gandhi PGI, Lucknow, India., Dũng VC; Department of Endocrinology, Metabolism and Genetics National Children's Hospital, Hanoi, Vietnam., Atta I; National Institute of Child Health, Karachi, Pakistan., Raza J; National Institute of Child Health, Karachi, Pakistan., Thi Diem Chi N; Paediatric Centre, Hue Central Hospital, Hue city, Vietnam., Hao TK; Paediatric Centre, Hue Central Hospital, Hue city, Vietnam., Harley V; Hudson Institute of Medical Research, Clayton, VIC, Australia., Koopman P; Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, Australia., Warne G; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; The Royal Children's Hospital Melbourne, Melbourne, VIC, Australia., Faradz S; Division of Human Genetics, Centre for Biomedical Research Faculty of Medicine Diponegoro University (FMDU), Semarang, Indonesia., Oshlack A; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.; University of Melbourne, School of Bioscience, Melbourne, VIC, Australia., Ayers KL; Murdoch Childrens Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Sinclair AH; Murdoch Childrens Research Institute, Melbourne, VIC, Australia. andrew.sinclair@mcri.edu.au.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia. andrew.sinclair@mcri.edu.au.

Publikováno v: Genome biology [Genome Biol] 2016 Nov 29; Vol. 17 (1), pp. 243. Date of Electronic Publication: 2016 Nov 29.

Response to: 'Determining the utility of the 60 min cortisol measurement in the short synacthen test'.

Autor: King RI; Department of Clinical Biochemistry, Mater Pathology, South Brisbane, Qld, Australia. richard.kingnz@gmail.com.

Publikováno v: Clinical endocrinology [Clin Endocrinol (Oxf)] 2014 May; Vol. 80 (5), pp. 767. Date of Electronic Publication: 2013 Aug 05.