Domain organization of human chromosomes revealed by mapping of nuclear lamina interactions
van Steensel, Bas, Guelen, Lars, Pagie, Ludo, Brasset, Emilie, Meuleman, Wouter, Faza, Marius B, Talhout, Wendy, Eussen, Bert H, de Klein, Annelies, Wessels, Lodewyk, de Laat, Wouter
Published in Nature (12.06.2008)
Published in Nature (12.06.2008)
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Congenital Diaphragmatic Hernia and Chromosome 15q26: Determination of a Candidate Region by Use of Fluorescent In Situ Hybridization and Array-Based Comparative Genomic Hybridization
Klaassens, M., van Dooren, M., Eussen, H.J., Douben, H., den Dekker, A.T., Lee, C., Donahoe, P.K., Galjaard, R.J., Goemaere, N., de Krijger, R.R., Wouters, C., Wauters, J., Oostra, B.A., Tibboel, D., de Klein, A.
Published in American journal of human genetics (01.05.2005)
Published in American journal of human genetics (01.05.2005)
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Journal Article
Cntnap2 is disrupted in a family with gilles de la tourette syndrome and obsessive compulsive disorder
Verkerk, Annemieke J.M.H., Mathews, Carol A., Joosse, Marijke, Eussen, Bert H.J., Heutink, Peter, Oostra, Ben A.
Published in Genomics (San Diego, Calif.) (01.07.2003)
Published in Genomics (San Diego, Calif.) (01.07.2003)
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Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification
Hes, FJ, van der Luijt, RB, Janssen, ALW, Zewald, RA, de Jong, GJ, Lenders, JW, Links, TP, Luyten, GPM, Sijmons, RH, Eussen, HJ, Halley, DJJ, Lips, CJM, Pearson, PL, van den Ouweland, AMW, Majoor-Krakauer, DF
Published in Clinical genetics (01.08.2007)
Published in Clinical genetics (01.08.2007)
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Journal Article
High-Throughput Analysis of Subtelomeric Chromosome Rearrangements by Use of Array-Based Comparative Genomic Hybridization
Veltman, Joris A., Schoenmakers, Eric F.P.M., Eussen, Bert H., Janssen, Irene, Merkx, Gerard, van Cleef, Brigitte, van Ravenswaaij, Conny M., Brunner, Han G., Smeets, Dominique, van Kessel, Ad Geurts
Published in American journal of human genetics (01.05.2002)
Published in American journal of human genetics (01.05.2002)
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Journal Article
Phenotype–genotype correlation in a familial IGF1R microdeletion case
Veenma, D C M, Eussen, H J, Govaerts, L C P, de Kort, S W K, Odink, R J, Wouters, C H, Hokken-Koelega, A C S, de Klein, A
Published in Journal of medical genetics (01.07.2010)
Published in Journal of medical genetics (01.07.2010)
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Journal Article
VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations
Brosens, E., Eussen, H., van Bever, Y., van der Helm, R.M., Ijsselstijn, H., Zaveri, H.P., Wijnen, R., Scott, D.A., Tibboel, D., de Klein, A.
Published in Molecular syndromology (01.02.2013)
Published in Molecular syndromology (01.02.2013)
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Journal Article
Congenital diaphragmatic hernia associated with duplication of 11q23‐qter
Klaassens, M., Scott, D.A., van Dooren, M., Hochstenbach, R., Eussen, H.J., Cai, W.W., Galjaard, R.J., Wouters, C., Poot, M., Laudy, J., Lee, B., Tibboel, D., de Klein, A.
Published in American journal of medical genetics. Part A (15.07.2006)
Published in American journal of medical genetics. Part A (15.07.2006)
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Journal Article
Quantification of MYCN, DDX1, and NAG Gene Copy Number in Neuroblastoma Using a Real-Time Quantitative PCR Assay
De Preter, Katleen, Speleman, Frank, Combaret, Valérie, Lunec, John, Laureys, Geneviève, Eussen, Bert H J, Francotte, Nadine, Board, Julian, Pearson, Andy D J, De Paepe, Anne, Van Roy, Nadine, Vandesompele, Jo
Published in Modern pathology (01.02.2002)
Published in Modern pathology (01.02.2002)
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Journal Article
Infantile hypertrophic pyloric stenosis in patients with esophageal atresia
Ten Kate, Chantal A, Brouwer, Rutger W W, van Bever, Yolande, Martens, Vera K, Brands, Tom, van Beelen, Nicole W G, Brooks, Alice S, Huigh, Daphne, van der Helm, Robert M, Eussen, Bert H F M M, van IJcken, Wilfred F J, IJsselstijn, Hanneke, Tibboel, Dick, Wijnen, Rene M H, de Klein, Annelies, Hofstra, Robert M W, Brosens, Erwin
Published in Birth defects research (15.05.2020)
Published in Birth defects research (15.05.2020)
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Journal Article
Complex MAX Rearrangement in a Family With Malignant Pheochromocytoma, Renal Oncocytoma, and Erythrocytosis
Korpershoek, Esther, Koffy, Djamailys, Eussen, Bert H, Oudijk, Lindsey, Papathomas, Thomas G, van Nederveen, Francien H, Belt, Eric J. T, Franssen, Gaston J. H, Restuccia, David F. J, Krol, Niels M. G, van der Luijt, Rob B, Feelders, Richard A, Oldenburg, Rogier A, van Ijcken, Wilfred F. J, de Klein, Annelies, de Herder, Wouter W, de Krijger, Ronald R, Dinjens, Winand N. M
Published in The journal of clinical endocrinology and metabolism (01.02.2016)
Published in The journal of clinical endocrinology and metabolism (01.02.2016)
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Journal Article
Deletion of the TWIST gene in a large five-generation family
De Heer, IM, Hoogeboom, AJM, Eussen, HJ, Vaandrager, JM, De Klein, A
Published in Clinical genetics (01.05.2004)
Published in Clinical genetics (01.05.2004)
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Journal Article
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula
Brosens, Erwin, Marsch, Florian, de Jong, Elisabeth M, Zaveri, Hitisha P, Hilger, Alina C, Choinitzki, Vera Gisela, Hölscher, Alice, Hoffmann, Per, Herms, Stefan, Boemers, Thomas M, Ure, Benno M, Lacher, Martin, Ludwig, Michael, Eussen, Bert H, van der Helm, Robert M, Douben, Hannie, Van Opstal, Diane, Wijnen, Rene M H, Beverloo, H Berna, van Bever, Yolande, Brooks, Alice S, IJsselstijn, Hanneke, Scott, Daryl A, Schumacher, Johannes, Tibboel, Dick, Reutter, Heiko, de Klein, Annelies
Published in European journal of human genetics : EJHG (01.12.2016)
Published in European journal of human genetics : EJHG (01.12.2016)
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Journal Article
Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: further delineation of the pure 1q trisomy syndrome
van Haelst, M M, Eussen, H J F M M, Visscher, F, de Ruijter, J L M, Drop, S L S, Lindhout, D, Wouters, C H, Govaerts, L C P
Published in Journal of medical genetics (01.08.2002)
Published in Journal of medical genetics (01.08.2002)
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Journal Article
Characterization of a Zinc-Finger Protein and Its Association With Apoptosis in Prostate Cancer Cells
Chang, Glenn T. G., Steenbeek, Martine, Schippers, Esther, Blok, Leen J., van Weerden, Wytske M., van Alewijk, Dirk C. J. G., Eussen, Bert H. J., van Steenbrugge, Gert J., Brinkmann, Albert O.
Published in JNCI : Journal of the National Cancer Institute (06.09.2000)
Published in JNCI : Journal of the National Cancer Institute (06.09.2000)
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Journal Article
Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing
Haarman, Annechien E.G., Klaver, Caroline C.W., Tedja, Milly S., Roosing, Susanne, Astuti, Galuh, Gilissen, Christian, Hoefsloot, Lies H., van Tienhoven, Marianne, Brands, Tom, Magielsen, Frank J., Eussen, Bert H.J.F.M.M., de Klein, Annelies, Brosens, Erwin, Verhoeven, Virginie J.M.
Published in Ophthalmology science (Online) (01.12.2023)
Published in Ophthalmology science (Online) (01.12.2023)
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Journal Article
Structural and numerical changes of chromosome X in patients with esophageal atresia
Brosens, Erwin, de Jong, Elisabeth M, Barakat, Tahsin Stefan, Eussen, Bert H, D'haene, Barbara, De Baere, Elfride, Verdin, Hannah, Poddighe, Pino J, Galjaard, Robert-Jan, Gribnau, Joost, Brooks, Alice S, Tibboel, Dick, de Klein, Annelies
Published in European journal of human genetics : EJHG (01.09.2014)
Published in European journal of human genetics : EJHG (01.09.2014)
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An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito
Eussen, Bert H J, Bartalini, Gabriella, Bakker, Lida, Balestri, Paolo, Di Lucca, Carmela, Van Hemel, Jan O, Dauwerse, Hans, van den Ouweland, Ans M W, Ris-Stalpers, Carrie, Verhoef, Senno, Halley, Dicky J J, Fois, Alberto
Published in Journal of medical genetics (01.04.2000)
Published in Journal of medical genetics (01.04.2000)
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