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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
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
Published in:
Nature Genetics, 2014, v. 46, n. 4, p. 380, doi. 10.1038/ng.2899
By:
- Helsmoortel, Céline;
- Vulto-van Silfhout, Anneke T;
- Coe, Bradley P;
- Vandeweyer, Geert;
- Rooms, Liesbeth;
- van den Ende, Jenneke;
- Schuurs-Hoeijmakers, Janneke H M;
- Marcelis, Carlo L;
- Willemsen, Marjolein H;
- Vissers, Lisenka E L M;
- Yntema, Helger G;
- Bakshi, Madhura;
- Wilson, Meredith;
- Witherspoon, Kali T;
- Malmgren, Helena;
- Nordgren, Ann;
- Annerén, Göran;
- Fichera, Marco;
- Bosco, Paolo;
- Romano, Corrado
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
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 3, p. 395, doi. 10.1038/sj.ejhg.5201975
By:
- Koolen, David A.;
- Sistermans, Erik A.;
- Nilessen, Willy;
- Knight, Samantha J. L.;
- Regan, Regina;
- Liu, Yan T.;
- Kooy, R. Frank;
- Rooms, Liesbeth;
- Romano, Corrado;
- Fichera, Marco;
- Schinzel, Albert;
- Baumer, Alessandra;
- Anderlid, Britt-Marie;
- Schoumans, Jacqueline;
- Van Kessel, Ad Geurts;
- Nordenskjold, Magnus;
- De Vries, Bert B. A.
Publication type:
Article
TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions.
Published in:
European Journal of Human Genetics, 2006, v. 14, n. 10, p. 1090, doi. 10.1038/sj.ejhg.5201674
By:
- Rooms, Liesbeth;
- Reyniers, Edwin;
- Scheers, Stefaan;
- van Luijk, Rob;
- Wauters, Jan;
- Van Aerschot, Leen;
- Callaerts-Vegh, Zsuzsanna;
- D'Hooge, Rudi;
- Mengus, Gabrielle;
- Davidson, Irwin;
- Courtens, Winnie;
- Kooy, R. Frank
Publication type:
Article
CNV-WebStore: Online CNV Analysis, Storage and Interpretation.
Published in:
BMC Bioinformatics, 2011, v. 12, n. 1, p. 1, doi. 10.1186/1471-2105-12-4
By:
- Vandeweyer, Geert;
- Reyniers, Edwin;
- Wuyts, Wim;
- Rooms, Liesbeth;
- Kooy, R. Frank
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
FRA2A Is a CGG Repeat Expansion Associated with Silencing of <i>AFF3</i>.
Published in:
PLoS Genetics, 2014, v. 10, n. 4, p. 1, doi. 10.1371/journal.pgen.1004242
By:
- Metsu, Sofie;
- Rooms, Liesbeth;
- Rainger, Jacqueline;
- Taylor, Martin S.;
- Bengani, Hemant;
- Wilson, David I.;
- Chilamakuri, Chandra Sekhar Reddy;
- Morrison, Harris;
- Vandeweyer, Geert;
- Reyniers, Edwin;
- Douglas, Evelyn;
- Thompson, Geoffrey;
- Haan, Eric;
- Gecz, Jozef;
- FitzPatrick, David R.;
- Kooy, R. Frank
Publication type:
Article
Detection of a case of chronic myeloid leukaemia with deletions at the t(9;22) translocation breakpoints by a genome-wide non-invasive prenatal test.
Published in:
2016
By:
- Janssens, Katrien;
- Deiteren, Kathleen;
- Verlinden, Anke;
- Rooms, Liesbeth;
- Beckers, Sigri;
- Holmgren, Philip;
- Vermeulen, Katrien;
- Maes, Marie‐Berthe;
- Mortier, Geert;
- Blaumeiser, Bettina
Publication type:
journal article
A CGG-Repeat Expansion Mutation in ZNF713 Causes FRA7 A: Association with Autistic Spectrum Disorder in Two Families.
Published in:
Human Mutation, 2014, v. 35, n. 11, p. 1295, doi. 10.1002/humu.22683
By:
- Metsu, Sofie;
- Rainger, Jacqueline K.;
- Debacker, Kim;
- Bernhard, Birgitta;
- Rooms, Liesbeth;
- Grafodatskaya, Daria;
- Weksberg, Rosanna;
- Fombonne, Eric;
- Taylor, Martin S.;
- Scherer, Stephen W.;
- Kooy, R. Frank;
- FitzPatrick, David R.
Publication type:
Article
Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardation.
Published in:
Human Mutation, 2007, v. 28, n. 2, p. 177, doi. 10.1002/humu.20421
By:
- Rooms, Liesbeth;
- Reyniers, Edwin;
- Kooy, R. Frank
Publication type:
Article
Subtelomeric rearrangements in the mentally retarded: A comparison of detection methods.
Published in:
Human Mutation, 2005, v. 25, n. 6, p. 513, doi. 10.1002/humu.20185
By:
- Rooms, Liesbeth;
- Reyniers, Edwin;
- Kooy, R. Frank
Publication type:
Article
Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA) (Communicated by Ulf Landegren).
Published in:
Human Mutation, 2004, v. 23, n. 1, p. 17, doi. 10.1002/humu.10300
By:
- Liesbeth Rooms;
- Edwin Reyniers;
- Rob van Luijk;
- Stefaan Scheers;
- Jan Wauters;
- Berten Ceulemans;
- Jenneke Van Den Ende;
- Yolande Van Bever;
- R. Frank Kooy
Publication type:
Article

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