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scopus: 7006308267

Sandkuijl, L.A.

(Lodewijk Sandkuijl)


patient mutation marker population study allele diabetes chromosome analysis region x syndrome type 2 diabetes table disease genet linkage syndrome subject type 1 diabetes netherland individual family haplotype genetic diagnosis deficiency sample renin genotype polymorphism hypertrophy distance dutch plasma hypertrophic cardiomyopathy rotterdam frequency result control angiotensin parent level model association mapping parents /guardians hsd 17b gene parkinsonism number method genome locus plasma renin value screening cardiomyopathy score library erasmus mc carrier prevalence linkage disequilibrium hypertrophic enzyme group t /a ratios c allele /c polymorphism university recessive primer receptor wild-type transcript ratio early-onset parkinsonism /guardian transcript gradient evidence estimate genomic regions




8 Most Recent Publications

Linkage disequilibrium in young genetically isolated Dutch population (Article)
Aulchenko, Y.S. Heutink, P. Oostra, B.A. Mackay, I. Bertoli Avella, A.M. Pullen, J. Vaessen, N. Rademaker, T.A.M. Sandkuijl, L.A. Cardon, L. Duijn, C.M. van
2004-07-01
A genome-wide search for genes involved in type 2 diabetes in a recently genetically isolated population from the Netherlands (Article)
Aulchenko, Y.S. Vaessen, N. Duijn, C.M. van Edwards, M. Heutink, P. Pullen, J. Snijders, P.J.L.M. Hofman, A. Sandkuijl, L.A. Houwing-Duistermaat, J.J. Bennett, S. Oostra, B.A.
2003-12-01
A genome-wide search for linkage-disequilibrium with type 1 diabetes in a recent genetically isolated population from the Netherlands (Article)
Vaessen, N. Houwing-Duistermaat, J.J. Rademaker, T.A.M. Testers, L. Batstra, M.R. Sandkuijl, L.A. Duijn, C.M. van Oostra, B.A. Snijders, P.J.L.M. Heutink, P.
2002-01-01
A mutation in SLC11A3 gene is associated with autosomal dominant hemochromatosis (Article)
Njajou, O.T. Vaessen, N. Dongen, J.W.F. van Heutink, P. Joosse, M. Berghuis, B. Breuning, M.H. Snijders, P.J.L.M. Rutten, W.P.F. Sandkuijl, L.A. Oostra, B.A. Duijn, C.M. van
2001-07-20
Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36 (Article)
Duijn, C.M. van Breedveld, G.J. Dekker, M.C.J. Snijders, P.J.L.M. Heutink, P. Horstink, M. Sandkuijl, L.A. Oostra, B.A. Swieten, J.C. van Bonifati, V. Galjaard, R-J.H. Houwing-Duistermaat, J.J. Testers, L.
2001-01-01
17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations (Article)
Boehmer, A.L.M. Halley, D.J.J. Rodrigues, C. Otten, B.J. Mendonça, B.B. Delemarre-van de Waal, H.A. Rouwé, C.W. Brinkmann, A.O. Sandkuijl, L.A. Ruiter, P.E. de Niermeijer, M.F. Andersson, S. Jong, F.H. de Bode, H.H. Drop, S.L.S. Kayserili, H. Vroede, M.A. de
1999-01-01
AT1 receptor A/C1166 polymorphism contributes to cardiac hypertrophy in subjects with hypertrophic cardiomyopathy (Article)
Osterop, A.P. Kofflard, M.J.M. Sandkuijl, L.A. Schalekamp, M.A.D.H. Danser, A.H.J. Krams, R. Cate, F.J. ten
1998-01-01
Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group (Article)
Vries, B.B.A. de Oostra, B.A. Halley, D.J.J. Sandkuijl, L.A. Niermeijer, M.F. Tibben, A. Ouweland, A.M.W. van den Mohkamsing, S. Duivenvoorden, H.J. Mol, E. Gelsema, K. Rijn, M. van
1997-01-01