Heutink P - Search Results

1

A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.

Njajou OT, Vaessen N, Joosse M, Berghuis B, van Dongen JW, Breuning MH, Snijders PJ, Rutten WP, Sandkuijl LA, Oostra BA, van Duijn CM, Heutink P. Njajou OT, et al. Among authors: heutink p. Nat Genet. 2001 Jul;28(3):213-4. doi: 10.1038/90038. Nat Genet. 2001. PMID: 11431687

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. 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

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. Nat Genet. 1994 Mar;6(3):287-92. doi: 10.1038/ng0394-287. Nat Genet. 1994. PMID: 8012392

4

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: heutink p. 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.

5

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. Hum Mol Genet. 1992 Apr;1(1):7-10. doi: 10.1093/hmg/1.1.7. Hum Mol Genet. 1992. PMID: 1301144

6

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. Am J Hum Genet. 1995 Aug;57(2):465-73. Am J Hum Genet. 1995. PMID: 7668273 Free PMC article.

7

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. Eur J Hum Genet. 1994;2(3):148-58. doi: 10.1159/000472358. Eur J Hum Genet. 1994. PMID: 7834274

8

Phenotypic analysis of triphalangeal thumb and associated hand malformations.

Zguricas J, Snijders PJ, Hovius SE, Heutink P, Oostra BA, Lindhout D. Zguricas J, et al. Among authors: heutink p. J Med Genet. 1994 Jun;31(6):462-7. doi: 10.1136/jmg.31.6.462. J Med Genet. 1994. PMID: 8071973 Free PMC article.

9

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: heutink p. Hum Mol Genet. 1994 Jan;3(1):167-71. doi: 10.1093/hmg/3.1.167. Hum Mol Genet. 1994. PMID: 8162019

10

The genetic background of craniosynostosis syndromes.

Heutink P, Vermeij-Keers C, Oostra BA. Heutink P, et al. Eur J Hum Genet. 1995;3(5):312-23. doi: 10.1159/000472315. Eur J Hum Genet. 1995. PMID: 8556306 Review.

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