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Prevalence and Phenotypic Impact of Robertsonian Translocations.
Published in:
Molecular Syndromology, 2021, v. 12, n. 1, p. 1, doi. 10.1159/000512676
By:
- Poot, Martin;
- Hochstenbach, Ron
Publication type:
Article
Transcription of gypsy elements in a Y-chromosome male fertility gene of Drosophila hydei.
Published in:
Genetics, 1996, v. 142, n. 2, p. 437, doi. 10.1093/genetics/142.2.437
By:
- Hochstenbach, Ron;
- Harhangi, Harry
Publication type:
Article
De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies.
Published in:
Case Reports in Genetics, 2016, p. 1, doi. 10.1155/2016/2861653
By:
- Lo-A-Njoe, Shirley;
- van der Veken, Lars T.;
- Vermont, Clementien;
- Rafael-Croes, Louise;
- Keizer, Vincent;
- Hochstenbach, Ron;
- Knoers, Nine;
- van Haelst, Mieke M.
Publication type:
Article
Unstable transmission of a familial complex chromosome rearrangement.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2888, doi. 10.1002/ajmg.a.35580
By:
- van Binsbergen, Ellen;
- Hochstenbach, Ron;
- Giltay, Jacques;
- Swinkels, Marielle
Publication type:
Article
Recombinant Vitronectin Is a Functionally Defined Substrate That Supports Human Embryonic Stem Cell Self-Renewal via αVβ5 Integrin.
Published in:
Stem Cells, 2008, v. 26, n. 9, p. 2257, doi. 10.1634/stemcells.2008-0291
By:
- Braam, Stefan R.;
- Zeinstra, Laura;
- Litjens, Sandy;
- Oostwaard, Dorien Ward-Van;
- Van Den Brink, Stieneke;
- Van Laake, Linda;
- Lebrin, Franck;
- Kats, Peter;
- Hochstenbach, Ron;
- Passier, Robert;
- Sonnenberg, Arnoud;
- Mummery, Christine L.
Publication type:
Article
Improved genetic manipulation of human embryonic stem cells.
Published in:
Nature Methods, 2008, v. 5, n. 5, p. 389, doi. 10.1038/nmeth.1200
By:
- Braam, Stefan R.;
- Denning, Chris;
- Van Den Brink, Stieneke;
- Kats, Peter;
- Hochstenbach, Ron;
- Passier, Robert;
- Mummery, Christine L.
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
A Novel 6.14 Mb Duplication of Chromosome 8p21 in a Patient with Autism and Self Mutilation.
Published in:
Journal of Autism & Developmental Disorders, 2009, v. 39, n. 2, p. 322, doi. 10.1007/s10803-008-0627-x
By:
- Ozgen, Heval;
- Staal, Wouter;
- Barber, John;
- Jonge, Maretha;
- Eleveld, Marc;
- Beemer, Frits;
- Hochstenbach, Ron;
- Poot, Martin
Publication type:
Article
Discovery of variants unmasked by hemizygous deletions.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 7, p. 748, doi. 10.1038/ejhg.2011.263
By:
- Hochstenbach, Ron;
- Poot, Martin;
- Nijman, Isaac J;
- Renkens, Ivo;
- Duran, Karen J;
- van'T Slot, Ruben;
- van Binsbergen, Ellen;
- van der Zwaag, Bert;
- Vogel, Maartje J;
- Terhal, Paulien A;
- Ploos van Amstel, Hans Kristian;
- Kloosterman, Wigard P;
- Cuppen, Edwin
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
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 5, p. 582, doi. 10.1038/ejhg.2008.232
By:
- Kanber, Deniz;
- Giltay, Jacques;
- Wieczorek, Dagmar;
- Zogel, Corinna;
- Hochstenbach, Ron;
- Caliebe, Almuth;
- Kuechler, Alma;
- Horsthemke, Bernhard;
- Buiting, Karin
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
Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf–Hirschhorn syndrome.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1132, doi. 10.1038/sj.ejhg.5201899
By:
- Flipsen-ten Berg, Klara;
- van Hasselt, Peter M.;
- Eleveld, Marc J.;
- van der Wijst, Suzanne E.;
- Hol, Frans A.;
- de Vroede, Monique A. M.;
- Beemer, Frits A.;
- Hochstenbach, P. F. Ron;
- Poot, Martin
Publication type:
Article
Microarray-based genome investigation: molecular karyotyping or segmental aneuploidy profiling?
Published in:
European Journal of Human Genetics, 2006, v. 14, n. 3, p. 262, doi. 10.1038/sj.ejhg.5201553
By:
- Hochstenbach, Ron;
- van Amstel, Hans Kristian Ploos;
- Poot, Martin
Publication type:
Article
Is the Y chromosome of Drosophila an evolved supernumerary chromosome?
Published in:
BioEssays, 1996, v. 18, n. 4, p. 317, doi. 10.1002/bies.950180410
By:
- Hackstein, Johannes H. P.;
- Hochstenbach, Ron;
- Hauschteck-Jungen, Elisabeth;
- Beukeboom, Leo W.
Publication type:
Article
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.
Published in:
2016
By:
- van der Crabben, Saskia N.;
- Hennus, Marije P.;
- McGregor, Grant A.;
- Ritter, Deborah I.;
- Nagamani, Sandesh C. S.;
- Wells, Owen S.;
- Harakalova, Magdalena;
- Chinn, Ivan K.;
- Alt, Aaron;
- Vondrova, Lucie;
- Hochstenbach, Ron;
- van Montfrans, Joris M.;
- Terheggen-Lagro, Suzanne W.;
- van Lieshout, Stef;
- van Roosmalen, Markus J.;
- Renkens, Ivo;
- Duran, Karen;
- Nijman, Isaac J.;
- Kloosterman, Wigard P.;
- Hennekam, Eric
Publication type:
journal article
Discordant NIPT result in a viable trisomy‐21 pregnancy due to prolonged contribution to cfDNA by a demised trisomy‐14 cotwin.
Published in:
Clinical Case Reports, 2018, v. 6, n. 5, p. 788, doi. 10.1002/ccr3.1424
By:
- Hochstenbach, Ron;
- Elferink, Martin G.;
- van Zon, Patrick H. A.;
- Lichtenbelt, Klaske D.;
- van Harssel, Jeske;
- Schuring‐Blom, Heleen;
- Page‐Christiaens, Godelieve C. M. L.
Publication type:
Article
Cell-free fetal DNA in the maternal circulation originates from the cytotrophoblast: proof from an unique case.
Published in:
Clinical Case Reports, 2015, v. 3, n. 6, p. 489, doi. 10.1002/ccr3.285
By:
- Hochstenbach, Ron;
- Nikkels, Peter G. J.;
- Elferink, Martin G.;
- Oudijk, Martijn A.;
- Oppen, Carla;
- Zon, Patrick;
- Harssel, Jeske;
- Schuring‐Blom, Heleen;
- Page‐Christiaens, Godelieve C. M. L.
Publication type:
Article
Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 10, p. 1916, doi. 10.1093/hmg/ddr073
By:
- Kloosterman, Wigard P.;
- Guryev, Victor;
- van Roosmalen, Mark;
- Duran, Karen J.;
- de Bruijn, Ewart;
- Bakker, Saskia C.M.;
- Letteboer, Tom;
- van Nesselrooij, Bernadette;
- Hochstenbach, Ron;
- Poot, Martin;
- Cuppen, Edwin
Publication type:
Article
Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.
Published in:
Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 186, doi. 10.1186/s13039-014-0100-9
By:
- Kloosterman, Wigard P.;
- Hochstenbach, Ron
Publication type:
Article
Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions.
Published in:
Human Mutation, 2010, v. 31, n. 12, p. 1343, doi. 10.1002/humu.21368
By:
- Hannes, Femke;
- Houdt, Jeroen Van;
- Quarrell, Oliver W.;
- Poot, Martin;
- Hochstenbach, Ron;
- Fryns, Jean-Pierre;
- Vermeesch, Joris R.
Publication type:
Article
Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism.
Published in:
Neurogenetics, 2011, v. 12, n. 4, p. 315, doi. 10.1007/s10048-011-0297-2
By:
- Daalen, Emma;
- Kemner, Chantal;
- Verbeek, Nienke;
- Zwaag, Bert;
- Dijkhuizen, Trijnie;
- Rump, Patrick;
- Houben, Renske;
- Slot, Ruben;
- Jonge, Maretha;
- Staal, Wouter;
- Beemer, Frits;
- Vorstman, Jacob;
- Burbach, J.;
- Amstel, Hans;
- Hochstenbach, Ron;
- Brilstra, Eva;
- Poot, Martin
Publication type:
Article
Monosomy 20 Mosaicism Revealed by Extensive Karyotyping in Blood and Skin Cells: Case Report and Review of the Literature.
Published in:
Cytogenetic & Genome Research, 2015, v. 144, n. 3, p. 155, doi. 10.1159/000369606
By:
- Hochstenbach, Ron;
- Krijtenburg, Pieter-Jaap;
- van der Veken, Lars T.;
- van der Smagt, Jasper;
- Roeleveld-Versteegh, angelique;
- Visser, Gepke;
- Terhal, Paulien
Publication type:
Article
Tetraploid/Diploid Mosaicism in Cultured Genital Skin Fibroblasts: Is It Causally Related to Penoscrotal Hypospadias?
Published in:
Molecular Syndromology, 2016, v. 7, n. 3, p. 153, doi. 10.1159/000446203
By:
- Giltay, Jacques C.;
- Klijn, Aart J.;
- de Jong, Tom P. V. M.;
- Kats, Peter;
- van Breugel, Marjolijn;
- Lens, Susan;
- Vromans, Martijn;
- van der Veken, Lars T.;
- Hochstenbach, Ron
Publication type:
Article
Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors.
Published in:
Molecular Syndromology, 2016, v. 6, n. 5, p. 210, doi. 10.1159/000441408
By:
- Hochstenbach, Ron;
- Nowakowska, Beata;
- Volleth, Marianne;
- Ummels, Amber;
- Kutkowska-Kaźmierczak, Anna;
- Obersztyn, Ewa;
- Ziemkiewicz, Kamila;
- Gerloff, Claudia;
- Schanze, Denny;
- Zenker, Martin;
- Muschke, Petra;
- Schanze, Ina;
- Poot, Martin;
- Liehr, Thomas
Publication type:
Article
Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants.
Published in:
Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0692-0
By:
- Middelkamp, Sjors;
- Vlaar, Judith M.;
- Giltay, Jacques;
- Korzelius, Jerome;
- Besselink, Nicolle;
- Boymans, Sander;
- Janssen, Roel;
- de la Fonteijne, Lisanne;
- van Binsbergen, Ellen;
- van Roosmalen, Markus J.;
- Hochstenbach, Ron;
- Giachino, Daniela;
- Talkowski, Michael E.;
- Kloosterman, Wigard P.;
- Cuppen, Edwin
Publication type:
Article
Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells.
Published in:
Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0399-z
By:
- Middelkamp, Sjors;
- van Heesch, Sebastiaan;
- Braat, A. Koen;
- de Ligt, Joep;
- van Iterson, Maarten;
- Simonis, Marieke;
- van Roosmalen, Markus J.;
- Kelder, Martijn J. E.;
- Kruisselbrink, Evelien;
- Hochstenbach, Ron;
- Verbeek, Nienke E.;
- Ippel, Elly F.;
- Adolfs, Youri;
- Pasterkamp, R. Jeroen;
- Kloosterman, Wigard P.;
- Kuijk, Ewart W.;
- Cuppen, Edwin
Publication type:
Article

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