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Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.
Published in:
2015
By:
- Hardies, Katia;
- de Kovel, Carolien G. F.;
- Weckhuysen, Sarah;
- Asselbergh, Bob;
- Geuens, Thomas;
- Deconinck, Tine;
- Azmi, Abdelkrim;
- May, Patrick;
- Brilstra, Eva;
- Becker, Felicitas;
- Barisic, Nina;
- Craiu, Dana;
- Braun, Kees P. J.;
- Lal, Dennis;
- Thiele, Holger;
- Schubert, Julian;
- Weber, Yvonne;
- van 't Slot, Ruben;
- Nürnberg, Peter;
- Balling, Rudi
Publication type:
journal article
The Intracranial Aneurysm Susceptibility Genes HSPG2 and CSPG2 Are Not Associated With Abdominal Aortic Aneurysm.
Published in:
Angiology, 2010, v. 61, n. 3, p. 238, doi. 10.1177/0003319709354751
By:
- Baas, Annette F.;
- Medic, Jelena;
- Van 't Slot, Ruben;
- de Vries, Jean-Paul P. M.;
- Van Sambeek, Marc R. H. M.;
- Verhoeven, Eric L. G.;
- Boll, Bart P.;
- Grobbee, Diederick E.;
- Wijmenga, Cisca;
- Blankensteijn, Jan D.;
- Ruigrok, Ynte M.
Publication type:
Article
Corrigendum: Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.
Published in:
2011
By:
- Radstake, Timothy R D J;
- Gorlova, Olga;
- Rueda, Blanca;
- Martin, Jose-Ezequiel;
- Alizadeh, Behrooz Z;
- Palomino-Morales, Rogelio;
- Coenen, Marieke J;
- Vonk, Madelon C;
- Voskuyl, Alexandre E;
- Schuerwegh, Annemie J;
- Broen, Jasper C;
- van Riel, Piet L C M;
- van 't Slot, Ruben;
- Italiaander, Annet;
- Ophoff, Roel A;
- Riemekasten, Gabriela;
- Hunzelmann, Nico;
- Simeon, Carmen P;
- Ortego-Centeno, Norberto;
- González-Gay, Miguel A
Publication type:
Correction Notice
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.
Published in:
Nature Genetics, 2010, v. 42, n. 5, p. 426, doi. 10.1038/ng.565
By:
- Radstake, Timothy R. D. J.;
- Gorlova, Olga;
- Rueda, Blanca;
- Martin, Jose-Ezequiel;
- Alizadeh, Behrooz Z.;
- Palomino-Morales, Rogelio;
- Coenen, Marieke J.;
- Vonk, Madelon C.;
- Voskuyl, Alexandre E.;
- Schuerwegh, Annemie J.;
- Broen, Jasper C.;
- van Riel, Piet L. C. M.;
- van 't Slot, Ruben;
- Italiaander, Annet;
- Ophoff, Roel A.;
- Riemekasten, Gabriela;
- Hunzelmann, Nico;
- Simeon, Carmen P.;
- Ortego-Centeno, Norberto;
- González-Gay, Miguel A.
Publication type:
Article
Genome-Wide Association Study Identifies Single Nucleotide Polymorphism in DYRK1A Associated with Replication of HIV-1 in Monocyte-Derived Macrophages.
Published in:
PLoS ONE, 2011, v. 6, n. 2, p. 1, doi. 10.1371/journal.pone.0017190
By:
- Bol, Sebastiaan M.;
- Moerland, Perry D.;
- Limou, Sophie;
- Remmerden, Yvonne van;
- Coulonges, Cédric;
- Manen, Daniëlle van;
- Herbeck, Joshua T.;
- Fellay, Jacques;
- Sieberer, Margit;
- Sietzema, Jantine G.;
- Slot, Ruben van 't;
- Martinson, Jeremy;
- Zagury, Jean-François;
- Schuitemaker, Hanneke;
- Wout, Angélique B. van 't
Publication type:
Article
Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism.
Published in:
PLoS ONE, 2009, v. 4, n. 5, p. 1, doi. 10.1371/journal.pone.0005324
By:
- van der Zwaag, Bert;
- Franke, Lude;
- Poot, Martin;
- Hochstenbach, Ron;
- Spierenburg, Henk A.;
- Vorstman, Jacob A. S.;
- van Daalen, Emma;
- de Jonge, Maretha V.;
- Verbeek, Nienke E.;
- Brilstra, Eva H.;
- van 't Slot, Ruben;
- Ophoff, Roel A.;
- van Es, Michael A.;
- Blauw, Hylke M.;
- Veldink, Jan H.;
- Buizer-Voskamp, Jacobine E.;
- Beemer, Frits A.;
- van den Berg, Leonard H.;
- Wijmenga, Cisca;
- van Amstel, Hans Kristian Ploos
Publication type:
Article
Genetic Susceptibility to Respiratory Syncytial Virus Bronchiolitis Is Predominantly Associated with Innate Immune Genes.
Published in:
Journal of Infectious Diseases, 2007, v. 196, n. 6, p. 826, doi. 10.1086/520886
By:
- Janssen, Riny;
- Bont, Louis;
- Siezen, Christine L. E.;
- Hodemaekers, Hennie M.;
- Ermers, Marieke J.;
- Doornbos, Gerda;
- van 't Slot, Ruben;
- Wijmenga, Ciska;
- Goeman, Jelle J.;
- Kimpen, Jan L. L.;
- van Houwelingen, Hans C.;
- Kimman, Tjeerd G.;
- Hoebee, Barbara
Publication type:
Article
Structural genomic variation in childhood epilepsies with complex phenotypes.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 896, doi. 10.1038/ejhg.2013.262
By:
- Helbig, Ingo;
- Swinkels, Marielle E M;
- Aten, Emmelien;
- Caliebe, Almuth;
- van 't Slot, Ruben;
- Boor, Rainer;
- von Spiczak, Sarah;
- Muhle, Hiltrud;
- Jähn, Johanna A;
- van Binsbergen, Ellen;
- van Nieuwenhuizen, Onno;
- Jansen, Floor E;
- Braun, Kees P J;
- de Haan, Gerrit-Jan;
- Tommerup, Niels;
- Stephani, Ulrich;
- Hjalgrim, Helle;
- Poot, Martin;
- Lindhout, Dick;
- Brilstra, Eva H
Publication type:
Article
Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 1, p. 39, doi. 10.1038/ejhg.2009.120
By:
- Poot, Martin;
- Eleveld, Marc J.;
- van 't Slot, Ruben;
- van Amstel, Hans Kristian Ploos;
- Hochstenbach, Ron
Publication type:
Article
Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 1, p. 129, doi. 10.1038/ejhg.2008.168
By:
- Engbers, Hannelie;
- van der Smagt, Jasper J;
- van ‘t Slot, Ruben;
- Vermeesch, Joris R.;
- Hochstenbach, Ron;
- Poot, Martin
Publication type:
Article
NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome.
Published in:
PLoS ONE, 2020, v. 14, n. 3, p. 1, doi. 10.1371/journal.pone.0219106
By:
- Weuring, Wout J.;
- Singh, Sakshi;
- Volkers, Linda;
- Rook, Martin B.;
- van 't Slot, Ruben H.;
- Bosma, Marjolein;
- Inserra, Marco;
- Vetter, Irina;
- Verhoeven-Duif, Nanda M.;
- Braun, Kees P. J.;
- Rivara, Mirko;
- Koeleman, Bobby P. C.
Publication type:
Article
Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.
Published in:
Epilepsia (Series 4), 2018, v. 59, n. 3, p. 690, doi. 10.1111/epi.14021
By:
- de Lange, Iris M.;
- Koudijs, Marco J.;
- van ’t Slot, Ruben;
- Gunning, Boudewijn;
- Sonsma, Anja C. M.;
- van Gemert, Lisette J. J. M.;
- Mulder, Flip;
- Carbo, Ellen C.;
- van Kempen, Marjan J. A.;
- Verbeek, Nienke E.;
- Nijman, Isaac J.;
- Ernst, Robert F.;
- Savelberg, Sanne M. C.;
- Knoers, Nine V. A. M.;
- Brilstra, Eva H.;
- Koeleman, Bobby P. C.
Publication type:
Article
Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer.
Published in:
Genome Biology, 2011, v. 12, n. 10, p. 1, doi. 10.1186/gb-2011-12-10-r103
By:
- Kloosterman, Wigard P.;
- Hoogstraat, Marlous;
- Paling, Oscar;
- Tavakoli-Yarak, Masoumeh;
- Renkens, Ivo;
- Vermaat, Joost S.;
- van Roosmalen, Markus J.;
- Lieshout, Stef van;
- Nijman, Isaac J.;
- Roessingh, Wijnand;
- Slot, Ruben van 't;
- de Belt, José van;
- Guryev, Victor;
- Koudijs, Marco;
- Voest2, Emile;
- Cuppen, Edwin
Publication type:
Article
A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 22, p. 6081, doi. 10.1093/hmg/ddu307
By:
- Kuiper, Jonas J.W.;
- Van Setten, Jessica;
- Ripke, Stephan;
- Van ‘T Slot, Ruben;
- Mulder, Flip;
- Missotten, Tom;
- Baarsma, G. Seerp;
- Francioli, Laurent C.;
- Pulit, Sara L.;
- De Kovel, Carolien G.F.;
- Ten Dam-Van Loon, Ninette;
- Den Hollander, Anneke I.;
- Huis in het Veld, Paulien;
- Hoyng, Carel B.;
- Cordero-Coma, Miguel;
- Martín, Javier;
- Llorenç, Victor;
- Arya, Bharti;
- Thomas, Dhanes;
- Bakker, Steven C.
Publication type:
Article
Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 12, p. 2825
By:
- Martin, Jose-Ezequiel;
- Broen, Jasper C.;
- Carmona, F. David;
- Teruel, Maria;
- Simeon, Carmen P.;
- Vonk, Madelon C.;
- van ‘t Slot, Ruben;
- Rodriguez-Rodriguez, Luis;
- Vicente, Esther;
- Fonollosa, Vicente;
- Ortego-Centeno, Norberto;
- González-Gay, Miguel A.;
- García-Hernández, Francisco J.;
- de la Peña, Paloma García;
- Carreira, Patricia;
- Voskuyl, Alexandre E.;
- Schuerwegh, Annemie J.;
- van Riel, Piet L.C.M.;
- Kreuter, Alexander;
- Witte, Torsten
Publication type:
Article
Exome-Wide Association Analysis of Coronary Artery Disease in the Kingdom of Saudi Arabia Population.
Published in:
PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0146502
By:
- de Kovel, Carolien G.;
- Mulder, Flip;
- van Setten, Jessica;
- van ‘t Slot, Ruben;
- Al-Rubaish, Abdullah;
- Alshehri, Abdullah M.;
- Al Faraidy, Khalid;
- Al-Ali, Abdullah;
- Al-Madan, Mohammed;
- Al Aqaili, Issa;
- Larbi, Emmanuel;
- Al-Ali, Rudaynah;
- Alzahrani, Alhusain;
- Asselbergs, Folkert W.;
- Koeleman, Bobby P. C.;
- Al-Ali, Amein
Publication type:
Article
Increased prime edit rates in KCNQ2 and SCN1A via single nicking all-in-one plasmids.
Published in:
BMC Biology, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12915-023-01646-7
By:
- Dirkx, N.;
- Weuring, Wout J.;
- De Vriendt, E.;
- Smal, N.;
- van de Vondervoort, J.;
- van 't Slot, Ruben;
- Koetsier, M.;
- Zonnekein, N.;
- De Pooter, Tim;
- Weckhuysen, S.;
- Koeleman, B. P. C.
Publication type:
Article
The SPINK gene family and celiac disease susceptibility.
Published in:
Immunogenetics, 2007, v. 59, n. 5, p. 349, doi. 10.1007/s00251-007-0199-5
By:
- Wapenaar, Martin C.;
- Monsuur, Alienke J.;
- Poell, Jos;
- Van 't Slot, Ruben;
- Meijer, Jos W. R.;
- Meijer, Gerrit A.;
- Mulder, Chris J.;
- Mearin, Maria Luisa;
- Wijmenga, Cisca
Publication type:
Article

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