Sandkuijl LA - Search Results

1

Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group.

de Vries BB, van den Ouweland AM, Mohkamsing S, Duivenvoorden HJ, Mol E, Gelsema K, van Rijn M, Halley DJ, Sandkuijl LA, Oostra BA, Tibben A, Niermeijer MF. de Vries BB, et al. Among authors: sandkuijl la. Am J Hum Genet. 1997 Sep;61(3):660-7. doi: 10.1086/515496. Am J Hum Genet. 1997. PMID: 9326332 Free PMC article.

2

[A large-scale diagnostic program for the fragile X syndrome among the mentally handicapped. I. An epidemiologic survey].

de Vries LB, van den Ouweland AM, Mohkamsing S, Sandkuijl LA, Oostra BA, Niermeijer MF. de Vries LB, et al. Among authors: sandkuijl la. Ned Tijdschr Geneeskd. 1998 Jul 18;142(29):1666-71. Ned Tijdschr Geneeskd. 1998. PMID: 9890806 Dutch.

3

Linkage analysis under locus heterogeneity: behaviour of the A-test in complex analyses.

Janssen B, Halley D, Sandkuijl L. Janssen B, et al. Hum Hered. 1997 Jul-Aug;47(4):223-33. doi: 10.1159/000154416. Hum Hered. 1997. PMID: 9239509

4

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.

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

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

7

Computer simulation of linkage and heterogeneity in tuberous sclerosis: a critical evaluation of the collaborative family data.

Janssen LA, Sandkuijl LA, Sampson JR, Halley DJ. Janssen LA, et al. Among authors: sandkuijl la. J Med Genet. 1992 Dec;29(12):867-74. doi: 10.1136/jmg.29.12.867. J Med Genet. 1992. PMID: 1479601 Free PMC article.

8

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.

9

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.

10

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.

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