Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Bobby P.C. 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:
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:
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.
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 to a cohort of patient
Autor:
Remi Stevelink, Dania Al-Toma, Floor E. Jansen, Herm J. Lamberink, Ali A. Asadi-Pooya, Mohsen Farazdaghi, Gonçalo Cação, Sita Jayalakshmi, Anuja Patil, Çiğdem Özkara, Şenay Aydın, Joanna Gesche, Christoph P. Beier, Linda J. Stephen, Martin J. Brodie, Gopeekrishnan Unnithan, Ashalatha Radhakrishnan, Julia Höfler, Eugen Trinka, Roland Krause, Emanuele Cerulli Irelli, Carlo Di Bonaventura, Jerzy P. Szaflarski, Laura E. Hernández-Vanegas, Monica L. Moya-Alfaro, Yingying Zhang, Dong Zhou, Nicola Pietrafusa, Nicola Specchio, Giorgi Japaridze, Sándor Beniczky, Mubeen Janmohamed, Patrick Kwan, Marte Syvertsen, Kaja K. Selmer, Bernd J. Vorderwülbecke, Martin Holtkamp, Lakshminarayanapuram G. Viswanathan, Sanjib Sinha, Betül Baykan, Ebru Altindag, Felix von Podewils, Juliane Schulz, Udaya Seneviratne, Alejandro Viloria-Alebesque, Ioannis Karakis, Wendyl J. D'Souza, Josemir W. Sander, Bobby P.C. Koeleman, Willem M. Otte, Kees P.J. Braun
Publikováno v:
info:eu-repo/grantAgreement/EC/FP7/279062
Stevelink, R, Al-Toma, D, Jansen, F E, Lamberink, H J, Asadi-Pooya, A A, Farazdaghi, M, Cação, G, Jayalakshmi, S, Patil, A, Özkara, Ç, Aydın, Ş, Gesche, J, Beier, C P, Stephen, L J, Brodie, M J, Unnithan, G, Radhakrishnan, A, Höfler, J, Trinka, E, Krause, R, Irelli, E C, Di Bonaventura, C, Szaflarski, J P, Hernández-Vanegas, L E, Moya-Alfaro, M L, Zhang, Y, Zhou, D, Pietrafusa, N, Specchio, N, Japaridze, G, Beniczky, S, Janmohamed, M, Kwan, P, Syvertsen, M, Selmer, K K, Vorderwülbecke, B J, Holtkamp, M, Viswanathan, L G, Sinha, S, Baykan, B, Altindag, E, von Podewils, F, Schulz, J, Seneviratne, U, Viloria-Alebesque, A, Karakis, I, D'Souza, W J, Sander, J W, Koeleman, B P C, Otte, W M & EpiPGX Consortium 2022, ' Individualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy : A systematic review and individual participant data meta-analysis ', EClinicalMedicine, vol. 53, 101732 . https://doi.org/10.1016/j.eclinm.2022.101732
Stevelink, R, Al-Toma, D, Jansen, F E, Lamberink, H J, Asadi-Pooya, A A, Farazdaghi, M, Cação, G, Jayalakshmi, S, Patil, A, Özkara, Ç, Aydın, Ş, Gesche, J, Beier, C P, Stephen, L J, Brodie, M J, Unnithan, G, Radhakrishnan, A, Höfler, J, Trinka, E, Krause, R, Irelli, E C, Di Bonaventura, C, Szaflarski, J P, Hernández-Vanegas, L E, Moya-Alfaro, M L, Zhang, Y, Zhou, D, Pietrafusa, N, Specchio, N, Japaridze, G, Beniczky, S, Janmohamed, M, Kwan, P, Syvertsen, M, Selmer, K K, Vorderwülbecke, B J, Holtkamp, M, Viswanathan, L G, Sinha, S, Baykan, B, Altindag, E, von Podewils, F, Schulz, J, Seneviratne, U, Viloria-Alebesque, A, Karakis, I, D'Souza, W J, Sander, J W, Koeleman, B P C, Otte, W M & EpiPGX Consortium 2022, ' Individualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy : A systematic review and individual participant data meta-analysis ', EClinicalMedicine, vol. 53, 101732 . https://doi.org/10.1016/j.eclinm.2022.101732
Background: A third of people with juvenile myoclonic epilepsy (JME) are drug-resistant. Three-quarters have a seizure relapse when attempting to withdraw anti-seizure medication (ASM) after achieving seizure-freedom. It is currently impossible to pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df10b97efe0fd76c0693a542cc69a6e9
https://hdl.handle.net/11573/1659040
https://hdl.handle.net/11573/1659040
Autor:
Eva M. Reinthaler, Dennis Lal, Sebastien Lebon, Michael S. Hildebrand, Hans-Henrik M. Dahl, Brigid M. Regan, Martha Feucht, Hannelore Steinböck, Birgit Neophytou, Gabriel M. Ronen, Laurian Roche, Ursula Gruber-Sedlmayr, Julia Geldner, Edda Haberlandt, Per Hoffmann, Stefan Herms, Christian Gieger, Melanie Waldenberger, Andre Franke, Michael Wittig, Susanne Schoch, Albert J. Becker, Andreas Hahn, Katrin Männik, Mohammad R. Toliat, Georg Winterer, Holger Lerche, Peter Nürnberg, Heather Mefford, Ingrid E. Scheffer, Samuel F. Berkovic, Jacques S. Beckmann, Thomas Sander, Sebastien Jacquemont, Alexandre Reymond, Fritz Zimprich, Bernd A. Neubauer, Bernd Neubauer, Martina Mörzinger, Arvid Suls, Sarah Weckhuysen, Lieve Claes, Liesbet Deprez, Katrien Smets, Tine Van Dyck, Tine Deconinck, Peter De Jonghe, Rikke S Møller, Laura L. Klitten, Helle Hjalgrim, Kiel Campus, Ingo Helbig, Hiltrud Muhle, Philipp Ostertag, Sarah von Spiczak, Ulrich Stephani, Holger Trucks, Christian E. Elger, Ailing A. Kleefuß-Lie, Wolfram S. Kunz, Rainer Surges, Verena Gaus, Dieter Janz, Bettina Schmitz, Felix Rosenow, Karl Martin Klein, Philipp S. Reif, Wolfgang H. Oertel, Hajo M. Hamer, Felicitas Becker, Yvonne Weber, Bobby P.C. Koeleman, Carolien de Kovel, Dick Lindhout, Agnès Ameil, Joris Andrieux, Sonia Bouquillon, Odile Boute, Jeanne de Flandre, Jean Marie Cuisset, Jean-Christophe Cuvellier, Roger Salengro, Albert David, Bert de Vries, Marie-Ange Delrue, Martine Doco-Fenzy, Bridget A. Fernandez, Delphine Heron, Boris Keren, Robert Lebel, Bruno Leheup, Suzanne Lewis, Maria Antonietta Mencarelli, Cyril Mignot, Jean-Claude Minet, Alexandre Moerman, Fanny Morice-Picard, Mafalda Mucciolo, Katrin Ounap, Laurent Pasquier, Florence Petit, Francesca Ragona, Evica Rajcan-Separovic, Alessandra Renieri, Claudine Rieubland, Damien Sanlaville, Elisabeth Sarrazin, Yiping Shen, Mieke van Haelst, Anneke Vulto-van Silfhout
Publikováno v:
16p11.2 European Consortium, EPICURE Consortium, The EuroEPINOMICS Consortium & Møller, R S 2014, ' 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy ', Human Molecular Genetics, vol. 23, no. 22, pp. 6069-6080 . https://doi.org/10.1093/hmg/ddu306
Human Molecular Genetics, vol. 23, no. 22, pp. 6069-6080
Human molecular genetics, 23(22), 6069-6080. Oxford University Press
Human molecular genetics
Hum. Mol. Genet. 23, 6069-6080 (2014)
HUMAN MOLECULAR GENETICS
Reinthaler, Eva M; Lal, Dennis; Lebon, Sebastien; Hildebrand, Michael S; Dahl, Hans-Henrik M; Regan, Brigid M; Feucht, Martha; Steinböck, Hannelore; Neophytou, Birgit; Ronen, Gabriel M; Roche, Laurian; Gruber-Sedlmayr, Ursula; Geldner, Julia; Haberlandt, Edda; Hoffmann, Per; Herms, Stefan; Gieger, Christian; Waldenberger, Melanie; Franke, Andre; Wittig, Michael; ... (2014). 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Human molecular genetics, 23(22), pp. 6069-6080. Oxford University Press 10.1093/hmg/ddu306
Human Molecular Genetics, vol. 23, no. 22, pp. 6069-6080
Human molecular genetics, 23(22), 6069-6080. Oxford University Press
Human molecular genetics
Hum. Mol. Genet. 23, 6069-6080 (2014)
HUMAN MOLECULAR GENETICS
Reinthaler, Eva M; Lal, Dennis; Lebon, Sebastien; Hildebrand, Michael S; Dahl, Hans-Henrik M; Regan, Brigid M; Feucht, Martha; Steinböck, Hannelore; Neophytou, Birgit; Ronen, Gabriel M; Roche, Laurian; Gruber-Sedlmayr, Ursula; Geldner, Julia; Haberlandt, Edda; Hoffmann, Per; Herms, Stefan; Gieger, Christian; Waldenberger, Melanie; Franke, Andre; Wittig, Michael; ... (2014). 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Human molecular genetics, 23(22), pp. 6069-6080. Oxford University Press 10.1093/hmg/ddu306
Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basis is largely unknown and a complex genetic etiology is assumed in the majority of affected individuals. The present study tested whether six large recurr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::780d31edaa034478bbfc1c48d66221a6
http://hdl.handle.net/11365/975064
http://hdl.handle.net/11365/975064
Autor:
Pierre Thomas, Antonio Gambardella, Sanjay M. Sisodiya, Patrick Cossette, U. Stephani, Arielle Crespel, Ronald C. Reed, Ivanka Savic Berglund, Alfonso Represa, Bobby P.C. Koeleman, Vi-Huong Nguyen-Michel, Edoardo Ferlazzo, Matthias J. Koepp, Javier Salas-Puig, Ingo Helbig, Reyna M. Durón, Betül Baykan, Anna Serafini, Judith Jerney, Iris E. Martínez-Juárez, Michelle Bureau, Martha Feucht, Friedrich Woermann, Holger Lerche, P. Gelisse, Dieter Janz, Antonio V. Delgado-Escueta, Cardan Gurses, Guido Rubboli, Carol Camfield, Pasquale Striano, Dorothée G.A. Kasteleijn-Nolst Trenité, Michael Trimble, Britta Wandschneider, Russel Buono, P. Genton, Edouard Hirsch, Charlotte Dravet, Bettina Schmitz, Marco T. Medina, Michael Koutroumanidis, Kazuhiro Yamakawa, Bruce P. Hermann, Elza Márcia Targas Yacubian, T. Grisar
An international workshop on juvenile myoclonic epilepsy (JME) was conducted in Avignon, France in May 2011. During that workshop, a group of 45 experts on JME, together with one of the founding fathers of the syndrome of JME ("Janz syndrome"), Prof.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5019deadf0e37bc9e3a25ade86b1e62
http://hdl.handle.net/11567/772833
http://hdl.handle.net/11567/772833
Autor:
Dalila Pinto, Dorothée G.A. Kasteleijn?Nolst Trenité, Heather J. Cordell, Manuel Mattheisen, Konstantin Strauch, Dick Lindhout, Bobby P.C. Koeleman
Publikováno v:
Genetic Epidemiology; Jan2007, Vol. 31 Issue 1, p42-50, 9p
Autor:
Frank Dudbridge, Bobby P.C. Koeleman
Publikováno v:
Genetic Epidemiology; Dec2003, Vol. 25 Issue 4, p360-366, 7p