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A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
de Bernabé DB, van Bokhoven H, van Beusekom E, Van den Akker W, Kant S, Dobyns WB, Cormand B, Currier S, Hamel B, Talim B, Topaloglu H, Brunner HG. de Bernabé DB, et al. Among authors: van den akker w, van beusekom e, van bokhoven h. J Med Genet. 2003 Nov;40(11):845-8. doi: 10.1136/jmg.40.11.845. J Med Genet. 2003. PMID: 14627679 Free PMC article. No abstract available.
Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.
van Bokhoven H, Jung M, Smits AP, van Beersum S, Rüschendorf F, van Steensel M, Veenstra M, Tuerlings JH, Mariman EC, Brunner HG, Wienker TF, Reis A, Ropers HH, Hamel BC. van Bokhoven H, et al. Among authors: van steensel m, van beersum s. Am J Hum Genet. 1999 Feb;64(2):538-46. doi: 10.1086/302246. Am J Hum Genet. 1999. PMID: 9973291 Free PMC article.
X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortium.
des Portes V, Beldjord C, Chelly J, Hamel B, Kremer H, Smits A, van Bokhoven H, Ropers HH, Claes S, Fryns JP, Ronce N, Gendrot C, Toutain A, Raynaud M, Moraine C. des Portes V, et al. Among authors: van bokhoven h. Am J Med Genet. 1999 Jul 30;85(3):263-5. doi: 10.1002/(sici)1096-8628(19990730)85:3<263::aid-ajmg15>3.0.co;2-0. Am J Med Genet. 1999. PMID: 10398240 No abstract available.
X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region.
Yntema HG, van den Helm B, Knoers NV, Smits AP, van Roosmalen T, Smeets DF, Mariman EC, van der Burgt I, van Bokhoven H, Ropers HH, Kremer H, Hamel BC. Yntema HG, et al. Among authors: van der burgt i, van roosmalen t, van bokhoven h, van den helm b. Am J Med Genet. 1999 Jul 30;85(3):305-8. doi: 10.1002/(sici)1096-8628(19990730)85:3<305::aid-ajmg22>3.0.co;2-5. Am J Med Genet. 1999. PMID: 10398247
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.
Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, Newbury-Ecob R, Hennekam RC, Van Buggenhout G, van Haeringen A, Woods CG, van Essen AJ, de Waal R, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, van Bokhoven H. Celli J, et al. Among authors: van essen aj, van haeringen a, van bokhoven h, van buggenhout g. Cell. 1999 Oct 15;99(2):143-53. doi: 10.1016/s0092-8674(00)81646-3. Cell. 1999. PMID: 10535733 Free article.
Familial syndromic esophageal atresia maps to 2p23-p24.
Celli J, van Beusekom E, Hennekam RC, Gallardo ME, Smeets DF, de Córdoba SR, Innis JW, Frydman M, König R, Kingston H, Tolmie J, Govaerts LC, van Bokhoven H, Brunner HG. Celli J, et al. Among authors: van beusekom e, van bokhoven h. Am J Hum Genet. 2000 Feb;66(2):436-44. doi: 10.1086/302779. Am J Hum Genet. 2000. PMID: 10677303 Free PMC article.
Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.
Crow YJ, Jackson AP, Roberts E, van Beusekom E, Barth P, Corry P, Ferrie CD, Hamel BC, Jayatunga R, Karbani G, Kálmánchey R, Kelemen A, King M, Kumar R, Livingstone J, Massey R, McWilliam R, Meager A, Rittey C, Stephenson JB, Tolmie JL, Verrips A, Voit T, van Bokhoven H, Brunner HG, Woods CG. Crow YJ, et al. Among authors: van beusekom e, van bokhoven h. Am J Hum Genet. 2000 Jul;67(1):213-21. doi: 10.1086/302955. Epub 2000 May 25. Am J Hum Genet. 2000. PMID: 10827106 Free PMC article.
337 results