Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.

Autor: Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Scala M; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Nagaraj V; Center for Advanced Biotechnology and Medicine, and Departments of Pharmacology and Medicine, Robert Wood Johnson Medical School, Rutgers the State University of New Jersey, Piscatway, NJ 08854, USA., Ochenkowska K; Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), and Department of Neuroscience, Université de Montréal, Montreal H2X 0A9, Quebec, Canada., Komdeur FL; Section Clinical Genetics, Department of Human Genetics and Amsterdam Reproduction and Development, Amsterdam University Medical Centers, 1105 AZ, Amsterdam, The Netherlands., Liang RA; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway, 9019 Tromsø, Norway., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Sultan T; Department of Pediatric Neurology, Children Hospital, University of Child Health Sciences, Lahore, Punjab 54000, Pakistan., Barøy T; Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway., Van Ghelue M; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway, 9019 Tromsø, Norway., Vona B; Institute of Human Genetics and Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, 37073 Göttingen, Germany., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Zafar F; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Punjab 60000, Pakistan., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Duru KC; Center for Advanced Biotechnology and Medicine, and Departments of Pharmacology and Medicine, Robert Wood Johnson Medical School, Rutgers the State University of New Jersey, Piscatway, NJ 08854, USA., Tryon RC; Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University, St Louis, MO 63110, USA., Brauteset LV; Division of Habilitation for Children, Innlandet Hospital Sanderud, Hamar 2312, Norway., Ansari M; South East Scotland Genetic Service, Western General Hospital, Edinburgh EH4 2XU, UK., Hamilton M; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK., van Haelst MM; Section Clinical Genetics, Department of Human Genetics and Amsterdam Reproduction and Development, Amsterdam University Medical Centers, 1105 AZ, Amsterdam, The Netherlands., van Haaften G; Department of Genetics, University Medical Center, Utrecht, 3584 CX, The Netherlands., Zara F; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Samarut É; Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), and Department of Neuroscience, Université de Montréal, Montreal H2X 0A9, Quebec, Canada., Nichols CG; Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University, St Louis, MO 63110, USA., Smeland MF; Department of Pediatric Rehabilitation, University Hospital of North Norway, 9019 Tromsø, Norway.; Institute of Clinical Medicine, UiT The Arctic University of Norway, 9019, Tromsø, Norway., McClenaghan C; Center for Advanced Biotechnology and Medicine, and Departments of Pharmacology and Medicine, Robert Wood Johnson Medical School, Rutgers the State University of New Jersey, Piscatway, NJ 08854, USA.

Publikováno v: Brain : a journal of neurology [Brain] 2024 May 03; Vol. 147 (5), pp. 1822-1836.

Plasma levels of mannose-binding lectin and future risk of venous thromboembolism.

Autor: Liang RA; K. G. Jebsen - Thrombosis Research and Expertise Center (TREC), Department of Clinical Medicine, University of Tromsø - The Arctic University of Norway, Tromsø, Norway., Høiland II; K. G. Jebsen - Thrombosis Research and Expertise Center (TREC), Department of Clinical Medicine, University of Tromsø - The Arctic University of Norway, Tromsø, Norway., Ueland T; K. G. Jebsen - Thrombosis Research and Expertise Center (TREC), Department of Clinical Medicine, University of Tromsø - The Arctic University of Norway, Tromsø, Norway.; Research Institute of Internal Medicine, Oslo University Hospital, Rikshospitalet, Oslo, Norway.; Faculty of Medicine, University of Oslo, Oslo, Norway., Aukrust P; K. G. Jebsen - Thrombosis Research and Expertise Center (TREC), Department of Clinical Medicine, University of Tromsø - The Arctic University of Norway, Tromsø, Norway.; Research Institute of Internal Medicine, Oslo University Hospital, Rikshospitalet, Oslo, Norway.; Faculty of Medicine, University of Oslo, Oslo, Norway.; Section of Clinical Immunology and Infectious Diseases, Oslo University Hospital, Rikshospitalet, Oslo, Norway.; K. G. Jebsen - Inflammation Research Center, University of Oslo, Oslo, Norway., Snir O; K. G. Jebsen - Thrombosis Research and Expertise Center (TREC), Department of Clinical Medicine, University of Tromsø - The Arctic University of Norway, Tromsø, Norway., Hindberg K; K. G. Jebsen - Thrombosis Research and Expertise Center (TREC), Department of Clinical Medicine, University of Tromsø - The Arctic University of Norway, Tromsø, Norway., Braekkan SK; K. G. Jebsen - Thrombosis Research and Expertise Center (TREC), Department of Clinical Medicine, University of Tromsø - The Arctic University of Norway, Tromsø, Norway.; Division of Internal Medicine, University Hospital of North Norway, Tromsø, Norway., Garred P; Laboratory of Molecular Medicine, Department of Clinical Immunology, Section 7631, Rigshospitalet, Copenhagen, Denmark., Mollnes TE; K. G. Jebsen - Thrombosis Research and Expertise Center (TREC), Department of Clinical Medicine, University of Tromsø - The Arctic University of Norway, Tromsø, Norway.; Department of Immunology, Oslo University Hospital and University of Oslo, Oslo, Norway.; Research Laboratory, Nordland Hospital, Bodø, Norway.; Centre of Molecular Inflammation Research, Norwegian University of Science and Technology, Trondheim, Norway., Hansen JB; K. G. Jebsen - Thrombosis Research and Expertise Center (TREC), Department of Clinical Medicine, University of Tromsø - The Arctic University of Norway, Tromsø, Norway.; Division of Internal Medicine, University Hospital of North Norway, Tromsø, Norway.

Publikováno v: Journal of thrombosis and haemostasis : JTH [J Thromb Haemost] 2019 Oct; Vol. 17 (10), pp. 1661-1669. Date of Electronic Publication: 2019 Jul 01.

Associations between complement pathways activity, mannose-binding lectin, and odds of unprovoked venous thromboembolism.

Autor: Høiland II; K. G. Jebsen - Thrombosis Research and Expertise Center (TREC), Department of Clinical Medicine, UiT - The Arctic University of Norway, Tromsø, Norway. Electronic address: ina.i.hoiland@uit.no., Liang RA; K. G. Jebsen - Thrombosis Research and Expertise Center (TREC), Department of Clinical Medicine, UiT - The Arctic University of Norway, Tromsø, Norway., Hindberg K; K. G. Jebsen - Thrombosis Research and Expertise Center (TREC), Department of Clinical Medicine, UiT - The Arctic University of Norway, Tromsø, Norway., Latysheva N; K. G. Jebsen - Thrombosis Research and Expertise Center (TREC), Department of Clinical Medicine, UiT - The Arctic University of Norway, Tromsø, Norway; Division of Internal Medicine, University Hospital of North Norway, Tromsø, Norway., Brekke OL; K. G. Jebsen - Thrombosis Research and Expertise Center (TREC), Department of Clinical Medicine, UiT - The Arctic University of Norway, Tromsø, Norway; Research Laboratory, Nordland Hospital, Bodø, Norway., Mollnes TE; K. G. Jebsen - Thrombosis Research and Expertise Center (TREC), Department of Clinical Medicine, UiT - The Arctic University of Norway, Tromsø, Norway; Department of Immunology, Oslo University Hospital, University of Oslo, Norway; Research Laboratory, Nordland Hospital, Bodø, Norway., Hansen JB; K. G. Jebsen - Thrombosis Research and Expertise Center (TREC), Department of Clinical Medicine, UiT - The Arctic University of Norway, Tromsø, Norway; Division of Internal Medicine, University Hospital of North Norway, Tromsø, Norway.

Publikováno v: Thrombosis research [Thromb Res] 2018 Sep; Vol. 169, pp. 50-56. Date of Electronic Publication: 2018 Jun 30.

Pan-cancer analysis identifies venous thromboembolism-related genes F3, PLAT, and C1S as potential prognostic biomarkers for glioblastoma and lower grade glioma.

Autor: Zhang, Jing, Zhao, Qian, Du, Yun, Wang, Wannan, Liu, Cuiqing

Publikováno v: Molecular Biomedicine; 8/24/2024, Vol. 5 Issue 1, p1-15, 15p

Agitation in the demented elderly: a role for benzodiazepines?

Autor: Ancill RJ; Riverview Hospital, Port Coquitlam, B.C., Canada., Carlyle WW, Liang RA, Holliday SG

Publikováno v: International clinical psychopharmacology [Int Clin Psychopharmacol] 1991 Winter; Vol. 6 (3), pp. 141-6.