Search Results - "Brunner, G"

Near critical and supercritical water. Part I. Hydrolytic and hydrothermal processes by Brunner, G.

“…The potential of hot and supercritical water in applications to produce useful products, or to process unwanted compounds into environmentally compatible…”
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Near and supercritical water. Part II: Oxidative processes by Brunner, G.

“…This paper is a review of applications of near and supercritical water with a focus on supercritical water oxidation (SCWO). Hydrolytic and hydrothermal…”
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The modular nature of genetic diseases by Oti, M, Brunner, HG

“…Evidence from many sources suggests that similar phenotypes are begotten by functionally related genes. This is most obvious in the case of genetically…”
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Extraction of oil, carotenes and tocochromanols from oil palm (Elaeis guineensis) fruit with subcritical propane by Phan-Tai, H., Brunner, G.

“…This work aims to screen the extraction of oil and bioactive compounds including carotenes and tocochromanols from oil palm fruit with subcritical propane and…”
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Benefits and costs of improved IEQ in U.S. offices by Fisk, W. J., Black, D., Brunner, G.

“…This study estimates some of the benefits and costs of implementing scenarios that improve indoor environmental quality (IEQ) in the stock of U.S. office…”
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A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology by Vissers, Lisenka E.L.M., van Nimwegen, Kirsten J.M., Schieving, Jolanda H., Kamsteeg, Erik-Jan, Kleefstra, Tjitske, Yntema, Helger G., Pfundt, Rolph, van der Wilt, Gert Jan, Krabbenborg, Lotte, Brunner, Han G., van der Burg, Simone, Grutters, Janneke, Veltman, Joris A., Willemsen, Michèl A.A.P.

“…Purpose: Implementation of novel genetic diagnostic tests is generally driven by technological advances because they promise shorter turnaround times and/or…”
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Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm by Lindsay, Mark E, Schepers, Dorien, Bolar, Nikhita Ajit, Doyle, Jefferson J, Gallo, Elena, Fert-Bober, Justyna, Kempers, Marlies J E, Fishman, Elliot K, Chen, Yichun, Myers, Loretha, Bjeda, Djahita, Oswald, Gretchen, Elias, Abdallah F, Levy, Howard P, Anderlid, Britt-Marie, Yang, Margaret H, Bongers, Ernie M H F, Timmermans, Janneke, Braverman, Alan C, Canham, Natalie, Mortier, Geert R, Brunner, Han G, Byers, Peter H, Van Eyk, Jennifer, Van Laer, Lut, Dietz, Harry C, Loeys, Bart L

“…Bart Loeys and colleagues identify mutations or deletions of TGFB2 in individuals with thoracic aortic aneurysm and other features of Loeys-Dietz syndrome…”
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Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes by Lelieveld, Stefan H., Wiel, Laurens, Venselaar, Hanka, Pfundt, Rolph, Vriend, Gerrit, Veltman, Joris A., Brunner, Han G., Vissers, Lisenka E.L.M., Gilissen, Christian

“…Haploinsufficiency (HI) is the best characterized mechanism through which dominant mutations exert their effect and cause disease. Non-haploinsufficiency (NHI)…”
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Phenotypic clustering of dilated cardiomyopathy patients highlights important pathophysiological differences by Verdonschot, Job A J, Merlo, Marco, Dominguez, Fernando, Wang, Ping, Henkens, Michiel T H M, Adriaens, Michiel E, Hazebroek, Mark R, Masè, Marco, Escobar, Luis E, Cobas-Paz, Rafael, Derks, Kasper W J, van den Wijngaard, Arthur, Krapels, Ingrid P C, Brunner, Han G, Sinagra, Gianfranco, Garcia-Pavia, Pablo, Heymans, Stephane R B

“…Abstract Aims The dilated cardiomyopathy (DCM) phenotype is the result of combined genetic and acquired triggers. Until now, clinical decision-making in DCM…”
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Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmias by Verdonschot, Job A J, Hazebroek, Mark R, Derks, Kasper W J, Barandiarán Aizpurua, Arantxa, Merken, Jort J, Wang, Ping, Bierau, Jörgen, van den Wijngaard, Arthur, Schalla, Simon M, Abdul Hamid, Myrurgia A, van Bilsen, Marc, van Empel, Vanessa P M, Knackstedt, Christian, Brunner-La Rocca, Hans-Peter, Brunner, Han G, Krapels, Ingrid P C, Heymans, Stephane R B

“…Abstract Aims Truncating titin variants (TTNtv) are the most prevalent genetic cause of dilated cardiomyopathy (DCM). We aim to study clinical parameters and…”
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p63-Associated Disorders by Rinne, Tuula, Brunner, Hans G., van Bokhoven, Hans

“…Heterozygous mutations in the transcription factor gene p63 are causative for several syndromes, with ectodermal dysplasia, orofacial clefting and limb…”
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Predicting disease genes using protein–protein interactions by Oti, M, Snel, B, Huynen, M A, Brunner, H G

“…Background: The responsible genes have not yet been identified for many genetically mapped disease loci. Physically interacting proteins tend to be involved in…”
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Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability by Kleefstra, Tjitske, Kramer, Jamie M., Neveling, Kornelia, Willemsen, Marjolein H., Koemans, Tom S., Vissers, Lisenka E.L.M., Wissink-Lindhout, Willemijn, Fenckova, Michaela, van den Akker, Willem M.R., Kasri, Nael Nadif, Nillesen, Willy M., Prescott, Trine, Clark, Robin D., Devriendt, Koenraad, van Reeuwijk, Jeroen, de Brouwer, Arjan P.M., Gilissen, Christian, Zhou, Huiqing, Brunner, Han G., Veltman, Joris A., Schenck, Annette, van Bokhoven, Hans

“…Intellectual disability (ID) disorders are genetically and phenotypically highly heterogeneous and present a major challenge in clinical genetics and medicine…”
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De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder by Snijders Blok, Lot, Kleefstra, Tjitske, Venselaar, Hanka, Maas, Saskia, Kroes, Hester Y., Lachmeijer, Augusta M.A., van Gassen, Koen L.I., Firth, Helen V., Tomkins, Susan, Bodek, Simon, Õunap, Katrin, Wojcik, Monica H., Cunniff, Christopher, Bergstrom, Katherine, Powis, Zoë, Tang, Sha, Shinde, Deepali N., Au, Catherine, Iglesias, Alejandro D., Izumi, Kosuke, Leonard, Jacqueline, Abou Tayoun, Ahmad, Baker, Samuel W., Tartaglia, Marco, Niceta, Marcello, Dentici, Maria Lisa, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Vitobello, Antonio, Faivre, Laurence, Philippe, Christophe, Gilissen, Christian, Wiel, Laurens, Pfundt, Rolph, Deriziotis, Pelagia, Brunner, Han G., Fisher, Simon E.

“…POU3F3, also referred to as Brain-1, is a well-known transcription factor involved in the development of the central nervous system, but it has not previously…”
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DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome by White, Janson, Mazzeu, Juliana F., Hoischen, Alexander, Jhangiani, Shalini N., Gambin, Tomasz, Alcino, Michele Calijorne, Penney, Samantha, Saraiva, Jorge M., Hove, Hanne, Skovby, Flemming, Kayserili, Hülya, Estrella, Elicia, Vulto-van Silfhout, Anneke T., Steehouwer, Marloes, Muzny, Donna M., Sutton, V. Reid, Gibbs, Richard A., Lupski, James R., Brunner, Han G., van Bon, Bregje W.M., Carvalho, Claudia M.B.

“…Robinow syndrome is a genetically heterogeneous disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features and…”
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An E280K Missense Variant in KCND3 /Kv4.3-Case Report and Functional Characterization by Ågren, Richard, Geerdink, Niels, Brunner, Han G, Paucar, Martin, Kamsteeg, Erik-Jan, Sahlholm, Kristoffer

“…A five-year-old girl presented with headache attacks, clumsiness, and a history of transient gait disturbances. She and her father, mother, twin sister, and…”
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DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome by Joshi, Ricky S., Garg, Paras, Zaitlen, Noah, Lappalainen, Tuuli, Watson, Corey T., Azam, Nidha, Ho, Daniel, Li, Xin, Antonarakis, Stylianos E., Brunner, Han G., Buiting, Karin, Cheung, Sau Wai, Coffee, Bradford, Eggermann, Thomas, Francis, David, Geraedts, Joep P., Gimelli, Giorgio, Jacobson, Samuel G., Le Caignec, Cedric, de Leeuw, Nicole, Liehr, Thomas, Mackay, Deborah J., Montgomery, Stephen B., Pagnamenta, Alistair T., Papenhausen, Peter, Robinson, David O., Ruivenkamp, Claudia, Schwartz, Charles, Steiner, Bernhard, Stevenson, David A., Surti, Urvashi, Wassink, Thomas, Sharp, Andrew J.

“…Genomic imprinting is a mechanism in which gene expression varies depending on parental origin. Imprinting occurs through differential epigenetic marks on the…”
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Ciliary Dyneins and Dynein Related Ciliopathies by Antony, Dinu, Brunner, Han G., Schmidts, Miriam

“…Although ubiquitously present, the relevance of cilia for vertebrate development and health has long been underrated. However, the aberration or dysfunction of…”
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Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients by Vrijenhoek, Terry, Buizer-Voskamp, Jacobine E., van der Stelt, Inge, Strengman, Eric, Sabatti, Chiara, Geurts van Kessel, Ad, Brunner, Han G., Ophoff, Roel A., Veltman, Joris A.

“…Schizophrenia is a severe psychiatric disease with complex etiology, affecting approximately 1% of the general population. Most genetics studies so far have…”
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A text-mining analysis of the human phenome by VAN DRIEL, Marc A, BRUGGEMAN, Jorn, VRIEND, Gert, BRUNNER, Han G, LEUNISSEN, Jack A. M

“…A number of large-scale efforts are underway to define the relationships between genes and proteins in various species. But, few attempts have been made to…”
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