Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Bobby P, Koeleman"'
Autor:
Yousef M. Alyousef, Faisal A. Alonaizan, Ahmed A. Alsulaiman, Mohammed I. Aldarwish, Ali A. Alali, Naif N. Almasood, Chittibabu Vatte, Cyril Cyrus, Alawi H. Habara, Bobby P.C. Koeleman
Publikováno v:
International Dental Journal, Vol 73, Iss 1, Pp 144-150 (2023)
ABSTRACT: Objectives: The objectives of this study were to identify the composition of oral microbiota in a cohort of patients with sickle cell anemia (SCA) and a high mean number of decayed, missing, and filled permanent teeth (DMFT) and compare it
Externí odkaz:
https://doaj.org/article/406e1b36cc57466baeb93d4f0896d297
Autor:
Isabelle Boothman, Lisa M. Clayton, Mark McCormack, Alexandra McKibben Driscoll, Remi Stevelink, Patrick Moloney, Roland Krause, Wolfram S. Kunz, Sarah Diehl, Terence J. O’Brien, Graeme J. Sills, Gerrit-Jan de Haan, Federico Zara, Bobby P. Koeleman, Chantal Depondt, Anthony G. Marson, Hreinn Stefansson, Kari Stefansson, John Craig, Michael R. Johnson, Pasquale Striano, Holger Lerche, Simon J. Furney, Norman Delanty, Consortium EpiPGX, Sanjay M. Sisodiya, Gianpiero L. Cavalleri, Joseph Willis, Mojgansadat Borghei, Simona Donatello, Martin J. Brodie, Pauls Auce, Andrea Jorgensen, Sarah R. Langley, Yvonne Weber, Christian Hengsbach, Martin Krenn, Fritz Zimprich, Ekaterina Pataraia, Karl Martin Klein, Hiltrud Muhle, Rikke S. Møller, Marina Nikanorova, Stefan Wolking, Ellen Campbell, Antonella Riva, Marcello Scala
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
BackgroundThe anti-seizure medication vigabatrin (VGB) is effective for controlling seizures, especially infantile spasms. However, use is limited by VGB-associated visual field loss (VAVFL). The mechanisms by which VGB causes VAVFL remains unknown.
Externí odkaz:
https://doaj.org/article/9ba7aecc0196466792d32bdb7c7d0945
Autor:
Yousef M. Alyousef, Faisal A. Alonaizan, Ahmed A. Alsulaiman, Halima Abukabbos, Mohammed I. Aldarwish, Ali A. Alali, Naif N. Almasood, Chittibabu Vatte, Cyril Cyrus, Alawi H. Habara, Bobby P.C. Koeleman
Publikováno v:
International Dental Journal, Vol 73, Iss 3, Pp 470- (2023)
Externí odkaz:
https://doaj.org/article/242cd57192b647869bdd73cfc0c2a9ad
Autor:
Remi Stevelink, Faith Pangilinan, Floor E. Jansen, Kees P.J. Braun, Anne M. Molloy, Lawrence C. Brody, Bobby P.C. Koeleman
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)
Altered vitamin B6 metabolism due to pathogenic variants in the gene PNPO causes early onset epileptic encephalopathy, which can be treated with high doses of vitamin B6. We recently reported that single nucleotide polymorphisms (SNPs) that influence
Externí odkaz:
https://doaj.org/article/c26d522635be472cbd15264b8dd4ab35
Autor:
Ciarán, Campbell, Mark, McCormack, Sonn, Patel, Caragh, Stapleton, Dheeraj, Bobbili, Roland, Krause, Chantal, Depondt, Graeme J, Sills, Bobby P, Koeleman, Pasquale, Striano, Federico, Zara, Josemir W, Sander, Holger, Lerche, Wolfram S, Kunz, Kari, Stefansson, Hreinn, Stefansson, Colin P, Doherty, Erin L, Heinzen, Ingrid E, Scheffer, David B, Goldstein, Terence, O'Brien, David, Cotter, Samuel F, Berkovic, Sanjay M, Sisodiya, Norman, Delanty, Gianpiero L, Cavalleri
Publikováno v:
info:eu-repo/grantAgreement/EC/FP7/279062
OBJECTIVE: Levetiracetam (LEV) is an effective antiseizure medicine, but 10%-20% of people treated with LEV report psychiatric side-effects, and up to 1% may have psychotic episodes. Pharmacogenomic predictors of these adverse drug reactions (ADRs) h
Autor:
Dennis Lal, Ann-Kathrin Ruppert, Holger Trucks, Herbert Schulz, Carolien G de Kovel, Dorothée Kasteleijn-Nolst Trenité, Anja C M Sonsma, Bobby P Koeleman, Dick Lindhout, Yvonne G Weber, Holger Lerche, Claudia Kapser, Christoph J Schankin, Wolfram S Kunz, Rainer Surges, Christian E Elger, Verena Gaus, Bettina Schmitz, Ingo Helbig, Hiltrud Muhle, Ulrich Stephani, Karl M Klein, Felix Rosenow, Bernd A Neubauer, Eva M Reinthaler, Fritz Zimprich, Martha Feucht, Rikke S Møller, Helle Hjalgrim, Peter De Jonghe, Arvid Suls, Wolfgang Lieb, Andre Franke, Konstantin Strauch, Christian Gieger, Claudia Schurmann, Ulf Schminke, Peter Nürnberg, EPICURE Consortium, Thomas Sander
Publikováno v:
PLoS Genetics, Vol 11, Iss 5, p e1005226 (2015)
Genetic generalised epilepsy (GGE) is the most common form of genetic epilepsy, accounting for 20% of all epilepsies. Genomic copy number variations (CNVs) constitute important genetic risk factors of common GGE syndromes. In our present genome-wide
Externí odkaz:
https://doaj.org/article/7a9aaf42fe42407c9b6b46e8e6a9130a
Autor:
Maureen D. Mayes, Lara Bossini-Castillo, Olga Gorlova, José Ezequiel Martin, Xiaodong Zhou, Wei V. Chen, Shervin Assassi, Jun Ying, Filemon K. Tan, Frank C. Arnett, John D. Reveille, Sandra Guerra, María Teruel, Francisco David Carmona, Peter K. Gregersen, Annette T. Lee, Elena López-Isac, Eguzkine Ochoa, Patricia Carreira, Carmen Pilar Simeón, Iván Castellví, Miguel Ángel González-Gay, Alexandra Zhernakova, Leonid Padyukov, Marta Alarcón-Riquelme, Cisca Wijmenga, Matthew Brown, Lorenzo Beretta, Gabriela Riemekasten, Torsten Witte, Nicolas Hunzelmann, Alexander Kreuter, Jörg H.W. Distler, Alexandre E. Voskuyl, Annemie J. Schuerwegh, Roger Hesselstrand, Annika Nordin, Paolo Airó, Claudio Lunardi, Paul Shiels, Jacob M. van Laar, Ariane Herrick, Jane Worthington, Christopher Denton, Fredrick M. Wigley, Laura K. Hummers, John Varga, Monique E. Hinchcliff, Murray Baron, Marie Hudson, Janet E. Pope, Daniel E. Furst, Dinesh Khanna, Kristin Phillips, Elena Schiopu, Barbara M. Segal, Jerry A. Molitor, Richard M. Silver, Virginia D. Steen, Robert W. Simms, Robert A. Lafyatis, Barri J. Fessler, Tracy M. Frech, Firas AlKassab, Peter Docherty, Elzbieta Kaminska, Nader Khalidi, Henry Niall Jones, Janet Markland, David Robinson, Jasper Broen, Timothy R.D.J. Radstake, Carmen Fonseca, Bobby P. Koeleman, Javier Martin, Norberto Ortego-Centeno, Raquel Ríos, José Luis Callejas, Nuria Navarrete, Rosa García Portales, María Teresa Camps, Antonio Fernández-Nebro, María F. González-Escribano, Julio Sánchez-Román, Francisco José García-Hernández, María Jesús Castillo, María Ángeles Aguirre, Inmaculada Gómez-Gracia, Benjamín Fernández-Gutiérrez, Luis Rodríguez-Rodríguez, Esther Vicente, José Luis Andreu, Mónica Fernández de Castro, Paloma García de la Peña, Francisco Javier López-Longo, Lina Martínez, Vicente Fonollosa, Gerard Espinosa, Carlos Tolosa, Anna Pros, Mónica Rodríguez Carballeira, Francisco Javier Narváez, Manel Rubio Rivas, Vera Ortiz Santamaría, Bernardino Díaz, Luis Trapiella, María del Carmen Freire, Adrián Sousa, María Victoria Egurbide, Patricia Fanlo Mateo, Luis Sáez-Comet, Federico Díaz, Vanesa Hernández, Emma Beltrán, José Andrés Román-Ivorra, Elena Grau, Juan José Alegre Sancho, Francisco J. Blanco García, Natividad Oreiro, Luis Fernández Sueiro
Publikováno v:
Mayes, M D, Bossini-Castillo, L, Gorlova, O, Martin, J E, Zhou, X D, Chen, W V, Assassi, S, Ying, J, Tan, F K, Arnett, F C, Reveille, J D, Guerra, S, Terue, M, Carmona, F D, Gregersen, P K, Lee, A T, Lopez-Isac, E, Ochoa, E, Carreira, P, Simeon, C P, Castellvi, I, Gonzalez-Gay, M A, Zhernakova, A, Padyukov, L, arcon-Riquelme, M, Wijmenga, C, Brown, M, Beretta, L, Riemekasten, G, Witte, T, Hunzelmann, N, Kreuter, A, Distler, J H W, Voskuyl, A E, Schuerwegh, A J, Hesselstrand, R, Nordin, A, Airo, P, Lunardi, C, Shiels, P, van Laar, J M, Herrick, A, Worthington, J, Denton, C, Wigley, F M, Hummers, L K, Varga, J, Hinchcliff, M E, Baron, M, Hudson, M, Pope, J E, Furst, DE, Khanna, D, Phillips, K, Schiopu, E, Segal, B M, Molitor, J A, Silver, R M, Steen, V D, Simms, R W, Lafyatis, R A, Fessler, B I J, Frech, T M, AlKassab, F, Docherty, P, Kaminska, E, Khalidi, N, Jones, H N, Markland, J, Robinson, D, Broen, J, Radstake, T R D J, Fonseca, C, Koeleman, BP & Martin, J 2014, ' Immunochip Analysis Identifies Multiple Susceptibility Loci for Systemic Sclerosis ', American journal of human genetics, vol. 94, no. 1, pp. 47-61 . https://doi.org/10.1016/j.ajhg.2013.12.002
American journal of human genetics, 94(1), 47-61. Cell Press
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
American Journal of Human Genetics, 94(1), 47-61. CELL PRESS
American Journal of Human Genetics, 94(1), 47-61
American journal of human genetics, 94(1), 47-61. Cell Press
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
American Journal of Human Genetics, 94(1), 47-61. CELL PRESS
American Journal of Human Genetics, 94(1), 47-61
In this study, 1,833 systemic sclerosis (SSc) cases and 3,466 controls were genotyped with the Immunochip array. Classical alleles, amino acid residues, and SNPs across the human leukocyte antigen (HLA) region were imputed and tested. These analyses
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce6939d4b4c770d281595dee1bc71cee
https://research.vumc.nl/en/publications/81e9c026-1180-45c0-9c4c-8e4e9a9b7152
https://research.vumc.nl/en/publications/81e9c026-1180-45c0-9c4c-8e4e9a9b7152