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The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 3, p. 315, doi. 10.1002/ajmg.c.31413
By:
- Vandeweyer, Geert;
- Helsmoortel, Céline;
- Van Dijck, Anke;
- Vulto‐van Silfhout, Anneke T.;
- Coe, Bradley P.;
- Bernier, Raphael;
- Gerdts, Jennifer;
- Rooms, Liesbeth;
- van den Ende, Jenneke;
- Bakshi, Madhura;
- Wilson, Meredith;
- Nordgren, Ann;
- Hendon, Laura G.;
- Abdulrahman, Omar A.;
- Romano, Corrado;
- de Vries, Bert B.A.;
- Kleefstra, Tjitske;
- Eichler, Evan E.;
- Van der Aa, Nathalie;
- Kooy, R. Frank
Publication type:
Article
Clinical delineation of the PACS1-related syndrome-Report on 19 patients.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 670, doi. 10.1002/ajmg.a.37476
By:
- Schuurs‐Hoeijmakers, Janneke H. M.;
- Landsverk, Megan L.;
- Foulds, Nicola;
- Kukolich, Mary K.;
- Gavrilova, Ralitza H.;
- Greville‐Heygate, Stephanie;
- Hanson‐Kahn, Andrea;
- Bernstein, Jonathan A.;
- Glass, Jennifer;
- Chitayat, David;
- Burrow, Thomas A.;
- Husami, Ammar;
- Collins, Kathleen;
- Wusik, Katie;
- van der Aa, Nathalie;
- Kooy, Frank;
- Brown, Kate Tatton;
- Gadzicki, Dorothea;
- Kini, Usha;
- Alvarez, Sara
Publication type:
Article
3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3061, doi. 10.1002/ajmg.a.36761
By:
- Dikow, Nicola;
- Maas, Bianca;
- Karch, Stephanie;
- Granzow, Martin;
- JanssEN, Johannes W.G.;
- Jauch, Anna;
- Hinderhofer, Katrin;
- Sutter, Christian;
- Schubert ‐ Bast, Susanne;
- Anderlid, Britt Marie;
- Dallapiccola, Bruno;
- Van der Aa, Nathalie;
- Moog, Ute
Publication type:
Article
Haploinsufficiency of CMIP in a Girl With Autism Spectrum Disorder and Developmental Delay due to a De Novo Deletion on Chromosome 16q23.2.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2012, v. 5, n. 4, p. 277, doi. 10.1002/aur.1240
By:
- Van der Aa, Nathalie;
- Vandeweyer, Geert;
- Reyniers, Edwin;
- Kenis, Sandra;
- Dom, Lina;
- Mortier, Geert;
- Rooms, Liesbeth;
- Kooy, R. Frank
Publication type:
Article
Positron Emission Tomography (PET) Quantification of GABA<sub>A</sub> Receptors in the Brain of Fragile X Patients.
Published in:
PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0131486
By:
- D’Hulst, Charlotte;
- Heulens, Inge;
- Van der Aa, Nathalie;
- Goffin, Karolien;
- Koole, Michel;
- Porke, Kathleen;
- Van De Velde, Marc;
- Rooms, Liesbeth;
- Van Paesschen, Wim;
- Van Esch, Hilde;
- Van Laere, Koen;
- Kooy, R. Frank
Publication type:
Article
Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients.
Published in:
Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-65608-x
By:
- D'Incal, Claudio Peter;
- Cappuyns, Elisa;
- Choukri, Kaoutar;
- De Man, Kevin;
- Szrama, Kristy;
- Konings, Anthony;
- Bastini, Lina;
- Van Meel, Kim;
- Buys, Amber;
- Gabriele, Michele;
- Rizzuti, Ludovico;
- Vitriolo, Alessandro;
- Testa, Giuseppe;
- Mohn, Fabio;
- Bühler, Marc;
- Van der Aa, Nathalie;
- Van Dijck, Anke;
- Kooy, R. Frank;
- Berghe, Wim Vanden
Publication type:
Article
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 6, p. 803, doi. 10.1038/ejhg.2014.173
By:
- Beunders, Gea;
- de Munnik, Sonja A;
- Van der Aa, Nathalie;
- Ceulemans, Berten;
- Voorhoeve, Els;
- Groffen, Alexander J;
- Nillesen, Willy M;
- Meijers-Heijboer, Elizabeth J;
- Frank Kooy, R;
- Yntema, Helger G;
- Sistermans, Erik A
Publication type:
Article
Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 5, p. 652, doi. 10.1038/ejhg.2013.220
By:
- Vergult, Sarah;
- Van Binsbergen, Ellen;
- Sante, Tom;
- Nowak, Silke;
- Vanakker, Olivier;
- Claes, Kathleen;
- Poppe, Bruce;
- Van der Aa, Nathalie;
- van Roosmalen, Markus J;
- Duran, Karen;
- Tavakoli-Yaraki, Masoumeh;
- Swinkels, Marielle;
- van den Boogaard, Marie-José;
- van Haelst, Mieke;
- Roelens, Filip;
- Speleman, Frank;
- Cuppen, Edwin;
- Mortier, Geert;
- Kloosterman, Wigard P;
- Menten, Björn
Publication type:
Article
Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1349, doi. 10.1038/ejhg.2013.86
By:
- Goubau, Christophe;
- Devriendt, Koen;
- Van der Aa, Nathalie;
- Crepel, An;
- Wieczorek, Dagmar;
- Kleefstra, Tjitske;
- Willemsen, Marjolein H;
- Rauch, Anita;
- Tzschach, Andreas;
- de Ravel, Thomy;
- Leemans, Peter;
- Van Geet, Chris;
- Buyse, Gunnar;
- Freson, Kathleen
Publication type:
Article
ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel–Van der Aa syndrome autopsy case.
Published in:
Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01743-w
By:
- D'Incal, Claudio;
- Van Dijck, Anke;
- Ibrahim, Joe;
- De Man, Kevin;
- Bastini, Lina;
- Konings, Anthony;
- Elinck, Ellen;
- Gozes, lllana;
- Marusic, Zlatko;
- Anicic, Mirna;
- Vukovic, Jurica;
- Van der Aa, Nathalie;
- Mateiu, Ligia;
- Vanden Berghe, Wim;
- Kooy, R. Frank
Publication type:
Article
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 13, p. 2590, doi. 10.1093/hmg/ddt107
By:
- Ajit Bolar, Nikhita;
- Vanlander, Arnaud Vincent;
- Wilbrecht, Claudia;
- Van der Aa, Nathalie;
- Smet, Joél;
- De Paepe, Boel;
- Vandeweyer, Geert;
- Kooy, Frank;
- Eyskens, François;
- De Latter, Elien;
- Delanghe, Gwenda;
- Govaert, Paul;
- Leroy, Jules Gerard;
- Loeys, Bart;
- Lill, Roland;
- Van Laer, Lut;
- Van Coster, Rudy
Publication type:
Article
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 10, p. 1960, doi. 10.1093/hmg/ddt043
By:
- 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.;
- Kooy, R. Frank;
- Riazuddin, Sheikh
Publication type:
Article
Kinetochore KMN network gene CASC5 mutated in primary microcephaly.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 24, p. 5306, doi. 10.1093/hmg/dds386
By:
- Genin, Anne;
- Desir, Julie;
- Lambert, Nelle;
- Biervliet, Martine;
- Van Der Aa, Nathalie;
- Pierquin, Genevieve;
- Killian, Audrey;
- Tosi, Mario;
- Urbina, Montse;
- Lefort, Anne;
- Libert, Frederick;
- Pirson, Isabelle;
- Abramowicz, Marc
Publication type:
Article
Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 343, doi. 10.1002/ajmg.a.33810
By:
- Rooms, Liesbeth;
- Vandeweyer, Geert;
- Reyniers, Edwin;
- van Mol, Kurt;
- de Canck, Ilse;
- Van der Aa, Nathalie;
- Rossau, Rudi;
- Kooy, R. Frank
Publication type:
Article
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature.
Published in:
Human Mutation, 2009, v. 30, n. 3, p. 334, doi. 10.1002/humu.20854
By:
- Callewaert, Bert L.;
- Loeys, Bart L.;
- Ficcadenti, Anna;
- Vermeer, Sascha;
- Landgren, Magnus;
- Kroes, Hester Y.;
- Yaron, Yuval;
- Pope, Michael;
- Foulds, Nicola;
- Boute, Odile;
- Galán, Francisco;
- Kingston, Helen;
- Van der Aa, Nathalie;
- Salcedo, Iratxe;
- Swinkels, Marielle E.;
- Wallgren-Pettersson, Carina;
- Gabrielli, Orazio;
- De Backer, Julie;
- Coucke, Paul J.;
- De Paepe, Anne M.
Publication type:
Article
Correction to: ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel–Van Der Aa syndrome autopsy case.
Published in:
2024
By:
- D'Incal, Claudio;
- Dijck, Anke Van;
- Ibrahim, Joe;
- Man, Kevin De;
- Bastini, Lina;
- Konings, Anthony;
- Elinck, Ellen;
- Theys, Claudia;
- Gozes, Illana;
- Marusic, Zlatko;
- Anicic, Mirna;
- Vukovic, Jurica;
- Aa, Nathalie Van der;
- Mateiu, Ligia;
- Vanden Berghe, Wim;
- Kooy, R. Frank
Publication type:
Correction Notice
ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel–Van der Aa syndrome autopsy case.
Published in:
Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01743-w
By:
- D'Incal, Claudio;
- Van Dijck, Anke;
- Ibrahim, Joe;
- De Man, Kevin;
- Bastini, Lina;
- Konings, Anthony;
- Elinck, Ellen;
- Theys, Claudia;
- Gozes, Illana;
- Marusic, Zlatko;
- Anicic, Mirna;
- Vukovic, Jurica;
- Van der Aa, Nathalie;
- Mateiu, Ligia;
- Vanden Berghe, Wim;
- Kooy, R. Frank
Publication type:
Article
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy.
Published in:
BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0200-3
By:
- Smets, Katrien;
- Duarri, Anna;
- Deconinck, Tine;
- Ceulemans, Berten;
- van de Warrenburg, Bart P.;
- Züchner, Stephan;
- Gonzalez, Michael Anthony;
- Schüle, Rebecca;
- Synofzik, Matthis;
- Van der Aa, Nathalie;
- De Jonghe, Peter;
- Verbeek, Dineke S.;
- Baets, Jonathan
Publication type:
Article
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy
Published in:
BMC Medical Genetics, 2015, v. 16, n. 1, p. 51, doi. 10.1186/s12881-015-0200-3
By:
- Smets, Katrien;
- Duarri, Anna;
- Deconinck, Tine;
- Ceulemans, Berten;
- van de Warrenburg, Bart P.;
- Züchner, Stephan;
- Gonzalez, Michael Anthony;
- Schüle, Rebecca;
- Synofzik, Matthis;
- Van der Aa, Nathalie;
- De Jonghe, Peter;
- Verbeek, Dineke S.;
- Baets, Jonathan
Publication type:
Article

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