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Page 1
Cloning and characterization of the human choroideremia gene.
van Bokhoven H, van den Hurk JA, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, Ropers HH, Cremers FP. van Bokhoven H, et al. Among authors: van den hurk ja. Hum Mol Genet. 1994 Jul;3(7):1041-6. doi: 10.1093/hmg/3.7.1041. Hum Mol Genet. 1994. PMID: 7981670
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
Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline.
van den Hurk JA, Hendriks W, van de Pol DJ, Oerlemans F, Jaissle G, Rüther K, Kohler K, Hartmann J, Zrenner E, van Bokhoven H, Wieringa B, Ropers HH, Cremers FP. van den Hurk JA, et al. Among authors: van de pol dj, van bokhoven h. Hum Mol Genet. 1997 Jun;6(6):851-8. doi: 10.1093/hmg/6.6.851. Hum Mol Genet. 1997. PMID: 9175730 Free article.
Assignment of WNT7B to human chromosome band 22q13 by in situ hybridization.
van Bokhoven H, Kissing J, Schepens M, van Beersum S, Simons A, Riegman P, McMahon JA, McMahon AP, Brunner HG. van Bokhoven H, et al. Among authors: van beersum s. Cytogenet Cell Genet. 1997;77(3-4):288-9. doi: 10.1159/000134600. Cytogenet Cell Genet. 1997. PMID: 9284940 Free 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.
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.
A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation.
Yntema HG, van den Helm B, Kissing J, van Duijnhoven G, Poppelaars F, Chelly J, Moraine C, Fryns JP, Hamel BC, Heilbronner H, Pander HJ, Brunner HG, Ropers HH, Cremers FP, van Bokhoven H. Yntema HG, et al. Among authors: van bokhoven h, van den helm b, van duijnhoven g. Genomics. 1999 Dec 15;62(3):332-43. doi: 10.1006/geno.1999.6004. Genomics. 1999. PMID: 10644430
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.
337 results