van Bokhoven H - Search Results

1

Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1).

Kleefstra T, Franken CE, Arens YH, Ramakers GJ, Yntema HG, Sistermans EA, Hulsmans CF, Nillesen WN, van Bokhoven H, de Vries BB, Hamel BC. Kleefstra T, et al. Among authors: van bokhoven h. Clin Genet. 2004 Oct;66(4):318-26. doi: 10.1111/j.1399-0004.2004.00308.x. Clin Genet. 2004. PMID: 15355434

2

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

3

Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene.

van den Hurk JA, Schwartz M, van Bokhoven H, van de Pol TJ, Bogerd L, Pinckers AJ, Bleeker-Wagemakers EM, Pawlowitzki IH, Rüther K, Ropers HH, Cremers FP. van den Hurk JA, et al. Among authors: van de pol tj, van bokhoven h. Hum Mutat. 1997;9(2):110-7. doi: 10.1002/(SICI)1098-1004(1997)9:2<110::AID-HUMU2>3.0.CO;2-D. Hum Mutat. 1997. PMID: 9067750 Free article. Review.

4

Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26.

Yntema HG, Hamel BC, Smits AP, van Roosmalen T, van den Helm B, Kremer H, Ropers HH, Smeets DF, van Bokhoven H. Yntema HG, et al. Among authors: van roosmalen t, van bokhoven h, van den helm b. J Med Genet. 1998 Oct;35(10):801-5. doi: 10.1136/jmg.35.10.801. J Med Genet. 1998. PMID: 9783701 Free PMC article.

5

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.

6

X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3.

Siderius LE, Hamel BC, van Bokhoven H, de Jager F, van den Helm B, Kremer H, Heineman-de Boer JA, Ropers HH, Mariman EC. Siderius LE, et al. Among authors: van bokhoven h, van den helm b. Am J Med Genet. 1999 Jul 30;85(3):216-20. Am J Med Genet. 1999. PMID: 10398231

7

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.

8

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

9

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.

10

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

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