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Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability
van der Werf, Ilse M., Van Dijck, Anke, Reyniers, Edwin, Helsmoortel, Céline, Kumar, Ajay Anand, Kalscheuer, Vera M., de Brouwer, Arjan PM, Kleefstra, Tjitske, van Bokhoven, Hans, Mortier, Geert, Janssens, Sandra, Vandeweyer, Geert, Kooy, R. Frank
Published in Gene (20.03.2017)
Published in Gene (20.03.2017)
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Journal Article
The Differential Effect of Clarithromycin and Azithromycin on Induction of Macrolide Resistance in Mycobacterium Abscessus
Schildkraut, Jodie A, Pennings, Lian J, Ruth, Mike M, de Brouwer, Arjan PM, Wertheim, Heiman FL, Hoefsloot, Wouter, de Jong, Arjan, van Ingen, Jakko
Published in Future microbiology (01.06.2019)
Published in Future microbiology (01.06.2019)
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Journal Article
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome
Willemsen, Marjolein H, Fernandez, Bridget A, Bacino, Carlos A, Gerkes, Erica, de Brouwer, Arjan PM, Pfundt, Rolph, Sikkema-Raddatz, Birgit, Scherer, Stephen W, Marshall, Christian R, Potocki, Lorraine, van Bokhoven, Hans, Kleefstra, Tjitske
Published in European journal of human genetics : EJHG (01.04.2010)
Published in European journal of human genetics : EJHG (01.04.2010)
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Journal Article
Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20
Maia, Nuno, Soares, Gabriela, Silva, Cecília, Marques, Isabel, Rodrigues, Bárbara, Santos, Rosário, Melo-Pires, Manuel, de Brouwer, Arjan PM, Temudo, Teresa, Jorge, Paula
Published in Frontiers in genetics (24.09.2020)
Published in Frontiers in genetics (24.09.2020)
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Journal Article
Regulation of MYCN expression in human neuroblastoma cells
Jacobs, Joannes F M, van Bokhoven, Hans, van Leeuwen, Frank N, Hulsbergen-van de Kaa, Christina A, de Vries, I Jolanda M, Adema, Gosse J, Hoogerbrugge, Peter M, de Brouwer, Arjan P M
Published in BMC cancer (18.07.2009)
Published in BMC cancer (18.07.2009)
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Journal Article
Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration
Iqbal, Zafar, Püttmann, Lucia, Musante, Luciana, Razzaq, Attia, Zahoor, Muhammad Yasir, Hu, Hao, Wienker, Thomas F, Garshasbi, Masoud, Fattahi, Zohreh, Gilissen, Christian, Vissers, Lisenka ELM, de Brouwer, Arjan PM, Veltman, Joris A, Pfundt, Rolph, Najmabadi, Hossein, Ropers, Hans-Hilger, Riazuddin, Sheikh, Kahrizi, Kimia, van Bokhoven, Hans
Published in European journal of human genetics : EJHG (01.03.2016)
Published in European journal of human genetics : EJHG (01.03.2016)
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Journal Article
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders
Iqbal, Zafar, Vandeweyer, Geert, van der Voet, Monique, Waryah, Ali Muhammad, Zahoor, Muhammad Yasir, Besseling, Judith A, Roca, Laura Tomas, Vulto-van Silfhout, Anneke T, Nijhof, Bonnie, Kramer, Jamie M, Van der Aa, Nathalie, Ansar, Muhammad, Peeters, Hilde, Helsmoortel, Céline, Gilissen, Christian, Vissers, Lisenka E L M, Veltman, Joris A, de Brouwer, Arjan P M, Frank Kooy, R, Riazuddin, Sheikh, Schenck, Annette, van Bokhoven, Hans, Rooms, Liesbeth
Published in Human molecular genetics (15.05.2013)
Published in Human molecular genetics (15.05.2013)
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Journal Article
Regulation of MYCNexpression in human neuroblastoma cells
Jacobs, Joannes FM, van Bokhoven, Hans, van Leeuwen, Frank N, Hulsbergen-van de Kaa, Christina A, de Vries, I Jolanda M, Adema, Gosse J, Hoogerbrugge, Peter M, de Brouwer, Arjan PM
Published in BMC cancer (18.07.2009)
Published in BMC cancer (18.07.2009)
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Journal Article
Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly
Giannandrea, Maila, Bianchi, Veronica, Mignogna, Maria Lidia, Sirri, Alessandra, Carrabino, Salvatore, D'Elia, Errico, Vecellio, Matteo, Russo, Silvia, Cogliati, Francesca, Larizza, Lidia, Ropers, Hans-Hilger, Tzschach, Andreas, Kalscheuer, Vera, Oehl-Jaschkowitz, Barbara, Skinner, Cindy, Schwartz, Charles E., Gecz, Jozef, Van Esch, Hilde, Raynaud, Martine, Chelly, Jamel, de Brouwer, Arjan P.M., Toniolo, Daniela, D'Adamo, Patrizia
Published in American journal of human genetics (12.02.2010)
Published in American journal of human genetics (12.02.2010)
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Journal Article
Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth
Van Maldergem, Lionel, Hou, Qingming, Kalscheuer, Vera M., Rio, Marlène, Doco-Fenzy, Martine, Medeira, Ana, de Brouwer, Arjan P.M., Cabrol, Christelle, Haas, Stefan A., Cacciagli, Pierre, Moutton, Sébastien, Landais, Emilie, Motte, Jacques, Colleaux, Laurence, Bonnet, Céline, Villard, Laurent, Dupont, Juliette, Man, Heng-Ye
Published in Human molecular genetics (15.08.2013)
Published in Human molecular genetics (15.08.2013)
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Journal Article
Clinical Significance of De Novo and Inherited Copy-Number Variation
Vulto-van Silfhout, Anneke T., Hehir-Kwa, Jayne Y., van Bon, Bregje W.M., Schuurs-Hoeijmakers, Janneke H.M., Meader, Stephen, Hellebrekers, Claudia J.M., Thoonen, Ilse J.M., de Brouwer, Arjan P.M., Brunner, Han G., Webber, Caleb, Pfundt, Rolph, de Leeuw, Nicole, de Vries, Bert B.A.
Published in Human mutation (01.12.2013)
Published in Human mutation (01.12.2013)
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Journal Article
OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin
Coene, Karlien L.M., Roepman, Ronald, Doherty, Dan, Afroze, Bushra, Kroes, Hester Y., Letteboer, Stef J.F., Ngu, Lock H., Budny, Bartlomiej, van Wijk, Erwin, Gorden, Nicholas T., Azhimi, Malika, Thauvin-Robinet, Christel, Veltman, Joris A., Boink, Mireille, Kleefstra, Tjitske, Cremers, Frans P.M., van Bokhoven, Hans, de Brouwer, Arjan P.M.
Published in American journal of human genetics (09.10.2009)
Published in American journal of human genetics (09.10.2009)
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Journal Article
Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome
Schuurs-Hoeijmakers, Janneke H.M., Oh, Edwin C., Vissers, Lisenka E.L.M., Swinkels, Mariëlle E.M., Gilissen, Christian, Willemsen, Michèl A., Holvoet, Maureen, Steehouwer, Marloes, Veltman, Joris A., de Vries, Bert B.A., van Bokhoven, Hans, de Brouwer, Arjan P.M., Katsanis, Nicholas, Devriendt, Koenraad, Brunner, Han G.
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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Journal Article
Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome
van den Berg, Maarten P., Almomani, Rowida, Biaggioni, Italo, van Faassen, Martijn, van der Harst, Pim, Silljé, Herman H.W., Mateo Leach, Irene, Hemmelder, Marc H., Navis, Gerjan, Luijckx, Gert Jan, de Brouwer, Arjan P.M., Venselaar, Hanka, Verbeek, Marcel M., van der Zwaag, Paul A., Jongbloed, Jan D.H., van Tintelen, J. Peter, Wevers, Ron A., Kema, Ido P.
Published in Circulation research (16.03.2018)
Published in Circulation research (16.03.2018)
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Journal Article
Mutations in MED12 Cause X-Linked Ohdo Syndrome
Vulto-van Silfhout, Anneke T., de Vries, Bert B.A., van Bon, Bregje W.M., Hoischen, Alexander, Ruiterkamp-Versteeg, Martina, Gilissen, Christian, Gao, Fangjian, van Zwam, Marloes, Harteveld, Cornelis L., van Essen, Anthonie J., Hamel, Ben C.J., Kleefstra, Tjitske, Willemsen, Michèl A.A.P., Yntema, Helger G., van Bokhoven, Hans, Brunner, Han G., Boyer, Thomas G., de Brouwer, Arjan P.M.
Published in American journal of human genetics (07.03.2013)
Published in American journal of human genetics (07.03.2013)
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Journal Article
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids
Wortmann, Saskia B., Espeel, Marc, Almeida, Ligia, Reimer, Annette, Bosboom, Dennis, Roels, Frank, de Brouwer, Arjan P.M., Wevers, Ron A.
Published in Journal of inherited metabolic disease (01.01.2015)
Published in Journal of inherited metabolic disease (01.01.2015)
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Journal Article
Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems
Vulto-van Silfhout, Anneke T., Rajamanickam, Shivakumar, Jensik, Philip J., Vergult, Sarah, de Rocker, Nina, Newhall, Kathryn J., Raghavan, Ramya, Reardon, Sara N., Jarrett, Kelsey, McIntyre, Tara, Bulinski, Joseph, Ownby, Stacy L., Huggenvik, Jodi I., McKnight, G. Stanley, Rose, Gregory M., Cai, Xiang, Willaert, Andy, Zweier, Christiane, Endele, Sabine, de Ligt, Joep, van Bon, Bregje W.M., Lugtenberg, Dorien, de Vries, Petra F., Veltman, Joris A., van Bokhoven, Hans, Brunner, Han G., Rauch, Anita, de Brouwer, Arjan P.M., Carvill, Gemma L., Hoischen, Alexander, Mefford, Heather C., Eichler, Evan E., Vissers, Lisenka E.L.M., Menten, Björn, Collard, Michael W., de Vries, Bert B.A.
Published in American journal of human genetics (01.05.2014)
Published in American journal of human genetics (01.05.2014)
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Journal Article
Homozygous SLC6A17 Mutations Cause Autosomal-Recessive Intellectual Disability with Progressive Tremor, Speech Impairment, and Behavioral Problems
Iqbal, Zafar, Willemsen, Marjolein H., Papon, Marie-Amélie, Musante, Luciana, Benevento, Marco, Hu, Hao, Venselaar, Hanka, Wissink-Lindhout, Willemijn M., Vulto-van Silfhout, Anneke T., Vissers, Lisenka E.L.M., de Brouwer, Arjan P.M., Marouillat, Sylviane, Wienker, Thomas F., Ropers, Hans Hilger, Kahrizi, Kimia, Nadif Kasri, Nael, Najmabadi, Hossein, Laumonnier, Frédéric, Kleefstra, Tjitske, van Bokhoven, Hans
Published in American journal of human genetics (05.03.2015)
Published in American journal of human genetics (05.03.2015)
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Journal Article