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An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects.
Fakhouri WD, Rahimov F, Attanasio C, Kouwenhoven EN, Ferreira De Lima RL, Felix TM, Nitschke L, Huver D, Barrons J, Kousa YA, Leslie E, Pennacchio LA, Van Bokhoven H, Visel A, Zhou H, Murray JC, Schutte BC. Fakhouri WD, et al. Among authors: van bokhoven h. Hum Mol Genet. 2014 May 15;23(10):2711-20. doi: 10.1093/hmg/ddt664. Epub 2014 Jan 16. Hum Mol Genet. 2014. PMID: 24442519 Free PMC article.
Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients.
van Bokhoven H, Schwartz M, Andréasson S, van den Hurk JA, Bogerd L, Jay M, Rüther K, Jay B, Pawlowitzki IH, Sankila EM, et al. van Bokhoven H, et al. Among authors: van den hurk ja. Hum Mol Genet. 1994 Jul;3(7):1047-51. doi: 10.1093/hmg/3.7.1047. Hum Mol Genet. 1994. PMID: 7981671
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.
McGrath JA, Duijf PH, Doetsch V, Irvine AD, de Waal R, Vanmolkot KR, Wessagowit V, Kelly A, Atherton DJ, Griffiths WA, Orlow SJ, van Haeringen A, Ausems MG, Yang A, McKeon F, Bamshad MA, Brunner HG, Hamel BC, van Bokhoven H. McGrath JA, et al. Among authors: van haeringen a, van bokhoven h. Hum Mol Genet. 2001 Feb 1;10(3):221-9. doi: 10.1093/hmg/10.3.221. Hum Mol Genet. 2001. PMID: 11159940
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, Vanmolkot KR, van Beusekom E, van Beersum SE, Celli J, Merkx GF, Tenconi R, Fryns JP, Verloes A, Newbury-Ecob RA, Raas-Rotschild A, Majewski F, Beemer FA, Janecke A, Chitayat D, Crisponi G, Kayserili H, Yates JR, Neri G, Brunner HG. van Bokhoven H, et al. Among authors: van beersum se, van beusekom e. Am J Hum Genet. 2001 Sep;69(3):481-92. doi: 10.1086/323123. Epub 2001 Jul 17. Am J Hum Genet. 2001. PMID: 11462173 Free PMC article.
Splitting p63.
van Bokhoven H, Brunner HG. van Bokhoven H, et al. Am J Hum Genet. 2002 Jul;71(1):1-13. doi: 10.1086/341450. Epub 2002 May 30. Am J Hum Genet. 2002. PMID: 12037717 Free PMC article. Review.
Pathogenesis of split-hand/split-foot malformation.
Duijf PH, van Bokhoven H, Brunner HG. Duijf PH, et al. Among authors: van bokhoven h. Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R51-60. doi: 10.1093/hmg/ddg090. Hum Mol Genet. 2003. PMID: 12668597 Review.
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.
Shoichet SA, Hoffmann K, Menzel C, Trautmann U, Moser B, Hoeltzenbein M, Echenne B, Partington M, Van Bokhoven H, Moraine C, Fryns JP, Chelly J, Rott HD, Ropers HH, Kalscheuer VM. Shoichet SA, et al. Among authors: van bokhoven h. Am J Hum Genet. 2003 Dec;73(6):1341-54. doi: 10.1086/380309. Epub 2003 Nov 18. Am J Hum Genet. 2003. PMID: 14628291 Free PMC article.
Mutations in the human TBX4 gene cause small patella syndrome.
Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H. Bongers EM, et al. Among authors: van beersum se, van kampen a, van bokhoven h. Am J Hum Genet. 2004 Jun;74(6):1239-48. doi: 10.1086/421331. Epub 2004 Apr 21. Am J Hum Genet. 2004. PMID: 15106123 Free PMC article.
337 results