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Hans van Bokhoven - Publications

Affiliations: 
Radboudumc 
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9 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2014 Kleefstra T, Schenck A, Kramer JM, Bokhoven Hv. The genetics of cognitive epigenetics. Neuropharmacology. 80: 83-94. PMID 24434855 DOI: 10.1016/J.Neuropharm.2013.12.025  0.44
2011 Nillesen WM, Yntema HG, Moscarda M, Verbeek NE, Wilson LC, Cowan F, Schepens M, Raas-Rothschild A, Gafni-Weinstein O, Zollino M, Vijzelaar R, Neri G, Nelen M, Bokhoven HV, Giltay J, et al. Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome Human Mutation. 32: 853-859. PMID 21538692 DOI: 10.1002/Humu.21523  0.501
2004 Kleefstra T, Yntema HG, Nillesen WM, Oudakker AR, Mullaart RA, Geerdink N, Bokhoven HV, Vries BBAD, Sistermans EA, Hamel BCJ. MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics. European Journal of Human Genetics. 12: 24-28. PMID 14560307 DOI: 10.1038/Sj.Ejhg.5201080  0.528
2003 Celli J, Bokhoven Hv, Brunner HG. Feingold syndrome: clinical review and genetic mapping. American Journal of Medical Genetics Part A. 122: 294-300. PMID 14518066 DOI: 10.1002/Ajmg.A.20471  0.328
2003 Duijf PHG, Bokhoven Hv, Brunner HG. Pathogenesis of split-hand/split-foot malformation Human Molecular Genetics. 12. PMID 12668597 DOI: 10.1093/Hmg/Ddg090  0.375
2002 Yntema HG, Poppelaars FA, Derksen E, Oudakker AR, Roosmalen Tv, Jacobs A, Obbema H, Brunner HG, Hamel BCJ, Bokhoven Hv. Expanding phenotype of XNP mutations: mild to moderate mental retardation. American Journal of Medical Genetics. 110: 243-247. PMID 12116232 DOI: 10.1002/Ajmg.10446  0.485
2002 Kleefstra T, Yntema HG, Oudakker AR, Vries BBAd, Bokhoven Hv, Hamel BCJ, Poppelaars FA, Ausems MGEM. Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3. American Journal of Medical Genetics. 110: 410-411. PMID 12116222 DOI: 10.1002/Ajmg.10483  0.491
2002 Yntema HG, Kleefstra T, Oudakker AR, Romein T, Vries BBAd, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, Bokhoven Hv. Low frequency of MECP2 mutations in mentally retarded males. European Journal of Human Genetics. 10: 487-490. PMID 12111644 DOI: 10.1038/Sj.Ejhg.5200836  0.518
2002 Yntema HG, Oudakker AR, Kleefstra T, Hamel BCJ, Bokhoven Hv, Chelly J, Kalscheuer VM, Fryns J, Raynaud M, Moizard M, Moraine C. In-frame deletion in MECP2 causes mild nonspecific mental retardation American Journal of Medical Genetics. 107: 81-83. PMID 11807877 DOI: 10.1002/Ajmg.10085  0.502
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