Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Renato Salemi"'
Autor:
Edwin P. Kirk, Robert W. Taylor, Canny Sugiana, Denise M. Kirby, Avihu Boneh, Hans Henrik M. Dahl, Renato Salemi, Katrina M. Bell, Akira Ohtake, David R. Thorburn, Michael T. Ryan, Lee Parry
Complex I deficiency, the most common respiratory chain defect, is genetically heterogeneous: mutations in 8 nuclear and 7 mitochondrial DNA genes encoding complex I subunits have been described. However, these genes account for disease in only a min
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d509e64439ba9680fdc699a1acc871a
Autor:
Renato Salemi, Stephen Fowler, Roland A.H. van Oorschot, Dale Garlepp, James R. Pearson, Fabio Guarino, Kaye N. Ballantyne
Publikováno v:
Australian Journal of Forensic Sciences. 47:428-439
Recent environmental monitoring studies have highlighted a need to confirm cleaning procedures are performing to suitable levels for highly sensitive STR kits such as PowerPlex 21. To ensure that DNA contamination minimisation procedures are adequate
Autor:
Andrew M. Scott, Alexander Dobrovic, Timothy J. Price, Geoff Chong, Arun Azad, Kate Fluck, Niall C. Tebbutt, Terrance Grant Johns, Renato Salemi, Val Gebski, Andrew Weickhardt, Effie Skrinos, John M. Mariadason, Nick Pavlakis
Publikováno v:
Journal of Clinical Oncology. 30:1505-1512
Purpose This preclinical and phase II study evaluated the efficacy and safety of the combination of cetuximab and erlotinib in metastatic colorectal cancer (mCRC). Patients and Methods The activity and mechanism of action of the combination of cetuxi
Publikováno v:
Pediatric Neurology. 45:311-318
Alpers syndrome is a rare autosomal recessive hepatocerebral degenerative disorder. Seventeen patients with Alpers syndrome or polymerase-γ gene mutations were identified. Case records of 12 patients with Alpers syndrome and polymerase-γ mutations
Autor:
Grant A. McArthur, Rory Wolfe, Bianca Devitt, Alexander Dobrovic, John W Kelly, Renato Salemi, Chin-Yuan Tzen, Wendy Liu
Publikováno v:
Pigment Cell & Melanoma Research. 24:666-672
The effect of NRAS mutations on the pathological features and clinical outcomes in patients with cutaneous melanoma was compared with that of tumors containing BRAF(V600E) mutations and tumors wild type for both (WT). Clinical outcome data were obtai
Autor:
Michael T. Ryan, Akira Ohtake, Denise M. Kirby, Renato Salemi, Canny Sugiana, Lisa Worgan, David R. Thorburn
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1659(2-3):121-128
Biochemical diagnosis of mitochondrial respiratory chain disorders requires caution to avoid misdiagnosis of secondary enzyme defects, and can be improved by the use of conservative diagnostic criteria. Pathogenic mutations causing mitochondrial diso
Autor:
Arianne Peers, Vicky Hantzis, Angela P. Gibson, E. Marelyn Wintour, Irene Koukoulas, Miodrag Dodic, R Baird, Renato Salemi
Publikováno v:
Kidney International. 59:425-433
Functional glucocorticoid receptors in the mesonephros of the ovine fetus.BackgroundAt 27 days of gestation in the ovine fetus (term = 145 to 150 days), the only kidney is the mesonephros, and allantoic fluid represents fetal urine. The hypothesis te
Autor:
Alexander Dobrovic, Stephen Q. Wong, Grant A. McArthur, Hongdo Do, Jason Li, Richard W. Tothill, Karen E. Sheppard, Renato Salemi
Publikováno v:
Scientific Reports
Massively parallel sequencing offers the ability to interrogate a tumour biopsy for multiple mutational changes. For clinical samples, methodologies must enable maximal extraction of available sequence information from formalin-fixed and paraffin-emb
Autor:
Helen Swalwell, Canny Sugiana, Emma L. Blakely, Robert McFarland, Phillipa J. Lamont, David R. Thorburn, Renato Salemi, Elena J. Tucker, Douglass M. Turnbull, Alison G. Compton, Bi-Xia Ke, Denise M. Kirby, Robert W. Taylor, Anna L. Mitchell
Publikováno v:
European journal of human genetics : EJHG. 19(7)
Defects of the mitochondrial respiratory chain are associated with a diverse spectrum of clinical phenotypes, and may be caused by mutations in either the nuclear or the mitochondrial genome (mitochondrial DNA (mtDNA)). Isolated complex I deficiency
Autor:
Anne Hamilton, Grant A. McArthur, Alexander Dobrovic, L Kerr, Angela Y C Tan, Renato Salemi, K Moodie, Despina Handolias
Publikováno v:
British Journal of Cancer
KIT has been identified as a of biological importance in melanoma, and mutations (and/or amplification) appear to be largely confined to acral and mucosal subtypes and those associated with chronic sun damage (Curtin et al, 2006; Beadling et al, 2008