Sandkuijl LA - Search Results

1

Clinical and genetic heterogeneity in benign hereditary chorea.

Breedveld GJ, Percy AK, MacDonald ME, de Vries BB, Yapijakis C, Dure LS, Ippel EF, Sandkuijl LA, Heutink P, Arts WF. Breedveld GJ, et al. Among authors: sandkuijl la. Neurology. 2002 Aug 27;59(4):579-84. doi: 10.1212/wnl.59.4.579. Neurology. 2002. PMID: 12196653

2

Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity.

Heutink P, Haitjema T, Breedveld GJ, Janssen B, Sandkuijl LA, Bontekoe CJ, Westerman CJ, Oostra BA. Heutink P, et al. Among authors: sandkuijl la. J Med Genet. 1994 Dec;31(12):933-6. doi: 10.1136/jmg.31.12.933. J Med Genet. 1994. PMID: 7891375 Free PMC article.

3

Further localization of the gene for hereditary paragangliomas and evidence for linkage in unrelated families.

Heutink P, van Schothorst EM, van der Mey AG, Bardoel A, Breedveld G, Pertijs J, Sandkuijl LA, van Ommen GJ, Cornelisse CJ, Oostra BA, et al. Heutink P, et al. Among authors: sandkuijl la. Eur J Hum Genet. 1994;2(3):148-58. doi: 10.1159/000472358. Eur J Hum Genet. 1994. PMID: 7834274

4

The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q.

Heutink P, Zguricas J, van Oosterhout L, Breedveld GJ, Testers L, Sandkuijl LA, Snijders PJ, Weissenbach J, Lindhout D, Hovius SE, et al. Heutink P, et al. Among authors: sandkuijl la. Nat Genet. 1994 Mar;6(3):287-92. doi: 10.1038/ng0394-287. Nat Genet. 1994. PMID: 8012392

5

Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11.

Wu YQ, Heutink P, de Vries BB, Sandkuijl LA, van den Ouweland AM, Niermeijer MF, Galjaard H, Reyniers E, Willems PJ, Halley DJ. Wu YQ, et al. Among authors: sandkuijl la. Hum Mol Genet. 1994 Jan;3(1):167-71. doi: 10.1093/hmg/3.1.167. Hum Mol Genet. 1994. PMID: 8162019

6

Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36.

van Duijn CM, Dekker MC, Bonifati V, Galjaard RJ, Houwing-Duistermaat JJ, Snijders PJ, Testers L, Breedveld GJ, Horstink M, Sandkuijl LA, van Swieten JC, Oostra BA, Heutink P. van Duijn CM, et al. Among authors: sandkuijl la. Am J Hum Genet. 2001 Sep;69(3):629-34. doi: 10.1086/322996. Epub 2001 Jul 2. Am J Hum Genet. 2001. PMID: 11462174 Free PMC article.

7

X-linked recessive inheritance of radial ray deficiencies in a family with four affected males.

Galjaard RJ, Kostakoglu N, Hoogeboom JJ, Breedveld GJ, van der Linde HC, Hovius SE, Oostra BA, Sandkuijl LA, Akarsu AN, Heutink P. Galjaard RJ, et al. Among authors: sandkuijl la. Eur J Hum Genet. 2001 Sep;9(9):653-8. doi: 10.1038/sj.ejhg.5200692. Eur J Hum Genet. 2001. PMID: 11571552 Review.

8

A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter.

Heutink P, van der Mey AG, Sandkuijl LA, van Gils AP, Bardoel A, Breedveld GJ, van Vliet M, van Ommen GJ, Cornelisse CJ, Oostra BA, et al. Heutink P, et al. Among authors: sandkuijl la. Hum Mol Genet. 1992 Apr;1(1):7-10. doi: 10.1093/hmg/1.1.7. Hum Mol Genet. 1992. PMID: 1301144

9

Linkage studies on Gilles de la Tourette syndrome: what is the strategy of choice?

Heutink P, van de Wetering BJ, Pakstis AJ, Kurlan R, Sandor P, Oostra BA, Sandkuijl LA. Heutink P, et al. Among authors: sandkuijl la. Am J Hum Genet. 1995 Aug;57(2):465-73. Am J Hum Genet. 1995. PMID: 7668273 Free PMC article.

10

A recombination event that redefines the Huntington disease region.

Snell RG, Thompson LM, Tagle DA, Holloway TL, Barnes G, Harley HG, Sandkuijl LA, MacDonald ME, Collins FS, Gusella JF, et al. Snell RG, et al. Among authors: sandkuijl la. Am J Hum Genet. 1992 Aug;51(2):357-62. Am J Hum Genet. 1992. PMID: 1386495 Free PMC article.

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