Search Results - "Berghuis, B."

Epidemiology, pathophysiology and putative genetic basis of carbamazepine- and oxcarbazepine-induced hyponatremia by Berghuis, B., de Haan, G.-J., van den Broek, M. P. H., Sander, J. W., Lindhout, D., Koeleman, B. P. C.

“…The use of carbamazepine (CBZ) and oxcarbazepine (OXC) as first‐line antiepileptic drugs in the treatment of focal epilepsy is limited by hyponatremia, a known…”
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Hyperactive behavior in a family with autosomal dominant lateral temporal lobe epilepsy caused by a mutation in the LGI1 /epitempin gene by Berghuis, B, Brilstra, E.H, Lindhout, D, Baulac, S, de Haan, G.J, van Kempen, M

“…Abstract Autosomal dominant lateral temporal lobe epilepsy (ADLTE) is characterized by focal seizures with auditory features or aphasia. Mutations in the…”
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Veterinary and Human Biobanking Practices: Enhancing Molecular Sample Integrity by Hostetter, G., Collins, E., Varlan, P., Edewaard, E., Harbach, P. R., Hudson, E. A., Feenstra, K. J., Turner, L. M., Berghuis, B. D., Resau, J. H., Jewell, S. D.

“…Animal models have historically informed veterinary and human pathophysiology. Next-generation genomic sequencing and molecular analyses using analytes derived…”
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Decreased BMD and Limb Deformities in Mice Carrying Mutations in Both Lrp5 and Lrp6 by Holmen, Sheri L, Giambernardi, Troy A, Zylstra, Cassandra R, Buckner‐Berghuis, Bree D, Resau, James H, Hess, J Fred, Glatt, Vaida, Bouxsein, Mary L, Ai, Minrong, Warman, Matthew L, Williams, Bart O

“…Humans and mice lacking Lrp5 have low BMD. To evaluate whether Lrp5 and Lrp6 interact genetically to control bone or skeletal development, we created mice…”
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Review Paper: Gene Expression Profiling in Veterinary and Human Medicine: Overview of Applications and Proposed Quality Control Practices by Kort, E.J, Norton, P, Haak, P, Berghuis, B, Ramirez, S, Resau, J

“…High throughput molecular analysis of veterinary tissue samples is being applied to a wide range of research questions aimed at improving survival, development…”
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Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy by Lerche, Holger, Berkovic, Samuel F, Lowenstein, Daniel H, Delgado-Escueta, Antonio V, Bailey, Julia N

“…To the Editor: With regard to the article by Bailey et al. (March 15, 2018, issue) 1 on the potential role of variants in the gene encoding intestinal-cell…”
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A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis by Njajou, Omer T, Vaessen, Norbert, Joosse, Marijke, Berghuis, Bianca, van Dongen, Jeroen W.F, Breuning, Martijn H, Snijders, Pieter J.L.M, Rutten, Wim P.F, Sandkuijl, Lodewijk A, Oostra, Ben A, van Duijn, Cornelia M, Heutink, Peter

“…Hereditary hemochromatosis (HH) is a very common disorder characterized by iron overload and multi-organ damage. Several genes involved in iron metabolism have…”
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A novel multipurpose monoclonal antibody for evaluating human c-Met expression in preclinical and clinical settings by Knudsen, Beatrice S, Zhao, Ping, Resau, James, Cottingham, Sandra, Gherardi, Ermanno, Xu, Eric, Berghuis, Bree, Daugherty, Jennifer, Grabinski, Tessa, Toro, Jose, Giambernardi, Troy, Skinner, R Scot, Gross, Milton, Hudson, Eric, Kort, Eric, Lengyel, Ernst, Ventura, Aviva, West, Richard A, Xie, Qian, Hay, Rick, Vande Woude, George, Cao, Brian

“…The inappropriate expression of the c-MET cell surface receptor in many human solid tumors necessitates the development of companion diagnostics to identify…”
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Dominant Hemochromatosis Due to N144H Mutation of SLC11A3: Clinical and Biological Characteristics by Njajou, Omer T., de Jong, Gerard, Berghuis, Bianca, Vaessen, Norbert, Snijders, Pieter J.L.M., Goossens, Jan P., Wilson, John H.P., Breuning, Martijn H., Oostra, Ben A., Heutink, Peter, Sandkuijl, Lodewijk A., van Duijn, Cornelia M.

“…ABSTRACT Hereditary hemochromatosis is classically inherited as a recessive trait but is genetically heterogeneous. Mutations in the HFE and the TFR2 genes…”
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Adsorption of NTG by Branje, J P, Berghuis, B

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