Sandkuijl LA - Search Results

1

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.

2

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

3

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

4

Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, 11q, and 12q. The Tuberous Sclerosis Collaborative Group.

Sampson JR, Janssen LA, Sandkuijl LA. Sampson JR, et al. Among authors: sandkuijl la. J Med Genet. 1992 Dec;29(12):861-6. doi: 10.1136/jmg.29.12.861. J Med Genet. 1992. PMID: 1479600 Free PMC article.

5

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.

6

Partial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndrome.

Terwindt GM, Ophoff RA, Lindhout D, Haan J, Halley DJ, Sandkuijl LA, Brouwer OF, Frants RR, Ferrari MD. Terwindt GM, et al. Among authors: sandkuijl la. Epilepsia. 1997 Aug;38(8):915-21. doi: 10.1111/j.1528-1157.1997.tb01257.x. Epilepsia. 1997. PMID: 9579893 Free article.

7

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.

8

Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome.

Meijers-Heijboer EJ, Sandkuijl LA, Brunner HG, Smeets HJ, Hoogeboom AJ, Deelen WH, van Hemel JO, Nelen MR, Smeets DF, Niermeijer MF, et al. Meijers-Heijboer EJ, et al. Among authors: sandkuijl la. J Med Genet. 1992 Dec;29(12):853-7. doi: 10.1136/jmg.29.12.853. J Med Genet. 1992. PMID: 1362220 Free PMC article.

9

17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations.

Boehmer AL, Brinkmann AO, Sandkuijl LA, Halley DJ, Niermeijer MF, Andersson S, de Jong FH, Kayserili H, de Vroede MA, Otten BJ, Rouwé CW, Mendonça BB, Rodrigues C, Bode HH, de Ruiter PE, Delemarre-van de Waal HA, Drop SL. Boehmer AL, et al. Among authors: sandkuijl la. J Clin Endocrinol Metab. 1999 Dec;84(12):4713-21. doi: 10.1210/jcem.84.12.6174. J Clin Endocrinol Metab. 1999. PMID: 10599740

10

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

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