J. H. L. M. (Hans) van Bokhoven

Papers authored by J. H. L. M. (Hans) van Bokhoven

This paper is available in a repository.

2010 M. Lommel, S. Cirak, T. Willer, R. Hermann, H. van Bokhoven, G. Uyanik, J. H. L. M. van Bokhoven

, C. Korner, T. Voit, I. Baric, U. Hehr, S. Strahl

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.

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Philippe Rostagno, Zohar Wolchinsky, Alessandra M. Vigano, Shoham Shivtiel, Huiqing Zhou, J. H. L. M. van Bokhoven

, Hans Van Bokhoven, Giustina Ferone, Caterina Missero, Roberto Mantovani, Daniel Aberdam, Thierry Virolle

Embryonic stem cells as an ectodermal cellular model of human p63-related dysplasia syndromes.

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This paper was not found in any repository, but could be made available legally by the author.

J. H. L. M. van Bokhoven

, Hans van Bokhoven, Jamie M. Kramer

Disruption of the epigenetic code: an emerging mechanism in mental retardation.

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J. van Reeuwijk, C. van den Elzen, J. van Reeuwijk, Mjw J. W. Olderode-Berends, Of F. Brouwer, C. van den Elzen, T. Roscioli, Mg G. van Pampus, M. G. van Pampus, H. Scheffer, Hg G. Brunner, H. van Bokhoven, J. H. L. M. van Bokhoven

, Fa A. Hol

A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum

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Jf F. Mazzeu, Am M. Vianna-Morgante, Acv C. V. Krepischi, A. R. Oudakker, C. Rosenberg, K. Szuhai, J. McGill, J. Maccraughan, H. van Bokhoven, J. H. L. M. van Bokhoven

, Hg G. Brunner

Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome.

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Monique C. M. Balemans, Manon M. H. Huibers, Nathalie W. D. Eikelenboom, Arthur J. Kuipers, Rik C. J. van Summeren, R. C. van Summeren, Michael M. C. A. Pijpers, Makoto Tachibana, Hans van Bokhoven, Yoichi Shinkai, J. H. L. M. van Bokhoven

, C. E. E. M. van der Zee

Reduced exploration, increased anxiety, and altered social behavior: Autistic-like features of euchromatin histone methyltransferase 1 heterozygous knockout mice.

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Vincent Cantagrel, Dirk J. Lefeber, Bobby G. Ng, Ziqiang Guan, Jennifer L. Silhavy, Stephanie L. Bielas, Ludwig Lehle, Hans Hombauer, Maciej Adamowicz, Ewa Swiezewska, A. P. M. de Brouwer, Arjan P. De Brouwer, Peter Blumel, Jolanta Sykut-Cegielska, Scott Houliston and 12 other authors

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.

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N. de Leeuw, Nicole de Leeuw, Saskia Bulk, Andrew Green, Lane Jaeckle-Santos, Linda A. Baker, Andrew R. Zinn, Tjitske Kleefstra, J. J. van der Smagt, Jasper J. van der Smagt, Angela Maria Vianne Morgante, L. B. A. de Vries, Bert B. A. de Vries, Hans van Bokhoven, J. H. L. M. van Bokhoven

and 2 other authors

UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.

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This paper is made freely available by the publisher.

2009 Marjolein H. Willemsen, Bridget A. Fernandez, Carlos A. Bacino, Erica Gerkes, Arjan Pm M. de Brouwer, A. P. M. de Brouwer, Rolph Pfundt, Birgit Sikkema-Raddatz, Stephen W. Scherer, Christian R. Marshall, Lorraine Potocki, Hans van Bokhoven, J. H. L. M. van Bokhoven

, Tjitske Kleefstra

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

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Stavros Bashiardes, Ludmila Kousoulidou, Hans van Bokhoven, J. H. L. M. van Bokhoven

, Hans-Hilger Ropers, Jamel Chelly, Claude Moraine, Arjan P. M. de Brouwer, A. P. M. de Brouwer, Hilde Van Esch

, H. van Esch, Guy Froyen, Philippos C. Patsalis, M. G. Bissell

A New Chromosome X Exon-Specific Microarray Platform for Screening of Patients with X-Linked Disorders

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T. Kleefstra, M. Bralo Palomares, W. A. van Zelst-Stams, W. M. Nillesen, V. Cormier-Daire

, G. Houge, N. Foulds, M. van Dooren

, M. H. Willemsen, R. Pfundt, A. Turner, M. Wilson, J. McGaughran, A. Rauch, M. Zenker and 17 other authors

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

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Dezső David, Bárbara Marques, Cristina Ferreira, Paula Vieira, Alfredo Corona-Rivera, José Carlos Ferreira, Hans van Bokhoven, J. H. L. M. van Bokhoven

Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1–q14.2

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Emmelien Aten, Nicolette den Hollander, N. den Hollander, Claudia Ruivenkamp, Jeroen Knijnenburg

, Hans van Bokhoven, Johan den Dunnen, J. H. L. M. van Bokhoven

, J. den Dunnen, Martijn Breuning

Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity?

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S. Ben-Shachar, M. Khajavi, Ma Withers, Ca A. Shaw, H. van Bokhoven, J. H. L. M. van Bokhoven

, Hg G. Brunner, Jr Lupski

Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?

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Simon T. Cliffe, Jamie M. Kramer, Khalid Hussain, Joris H. Robben, Eiko K. de Jong, Arjan P. de Brouwer, E. K. de Jong, A. P. M. de Brouwer, Esther Nibbeling, Erik-Jan Kamsteeg, Melanie Wong, Julie Prendiville, Chela James, Raja Padidela, Hans van Bokhoven and 8 other authors

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

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2008 Uwe Kornak, Memmune Yuksel-Apak, Jeroen van Reeuwijk

, Ellen Reynders, Aikaterini Dimopoulou, J. van Reeuwijk, Bjoern Fischer, Anna Rajab, William B. Dobyns, Birgit Budde, Dulce Quelhas, Peter Nurnberg, Laura Vilarinho, Hans van Bokhoven, Francois Foulquier and 24 other authors

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

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Carlo L. M. Marcelis, Frans A. Hol, Gail E. Graham, Paul N. M. A. Rieu, Richard Kellermayer, Rowdy P. P. Meijer, Dorien Lugtenberg, Hans Scheffer, Hans van Bokhoven, J. H. L. M. van Bokhoven

, Han G. Brunner, Arjan P. M. de Brouwer, A. P. M. de Brouwer

Genotype-phenotype correlations in MYCN-related Feingold syndrome.

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2007 Anika H. D. M. Dam, Isabelle Koscinski, Jan A. M. Kremer, Céline Moutou, Anne-Sophie Jaeger, Astrid R. Oudakker, Herman Tournaye, Nicolas Charlet, Clotilde Lagier-Tourenne, Hans van Bokhoven, J. H. L. M. van Bokhoven

, Stéphane Viville

Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia

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A. P. M. de Brouwer, Arjan P. M. de Brouwer, Kelly L. Williams, John A. Duley, André B. P. van Kuilenburg, A. B. P. van Kuilenburg, Sander B. Nabuurs, Michael Egmont-Petersen, A. B. van Kuilenburg, Dorien Lugtenberg, Lida Zoetekouw, Martijn J. G. Banning, Melissa Roeffen, Ben C. J. Hamel, Linda Weaving and 6 other authors

Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1

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Tuula K. Rinne, Hans G. Brunner, Hans van Bokhoven, J. H. L. M. van Bokhoven

p63-associated disorders.

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Papers authored by J. H. L. M. (Hans) van Bokhoven