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Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy.
Published in:
Nature Genetics, 2003, v. 35, n. 4, p. 315, doi. 10.1038/ng1262
By:
- Enthoven, Leo;
- Bakels, Floor;
- Winokur, Sara T.;
- Padberg, George W.;
- Frants, Rune R.;
- van Overveld, Petra G. M.;
- Lemmers, Richard J. F. L.;
- van Ommen, Gert-Jan B.;
- van der Maarel, Silvère M.;
- Sandkuijl, Lodewijk A.
Publication type:
Article
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere.
Published in:
Nature Genetics, 2002, v. 32, n. 2, p. 235, doi. 10.1038/ng999
By:
- Lemmers, Richard J.L.F.;
- de Kievit, Peggy;
- Sandkuijl, Lodewijk;
- Padberg, George W.;
- van Ommen, Gert-Jan B.;
- Frants, Rune R.;
- van der Maarel, Silvère M.
Publication type:
Article
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.
Published in:
Nature Genetics, 2001, v. 28, n. 3, p. 213, doi. 10.1038/90038
By:
- Njajou, Omer T.;
- Vaessen, Norbert;
- Joosse, Marijke;
- Berghuis, Bianca;
- van Dongen, Jeroen W.F.;
- Breuning, Martijn H.;
- Snijders, Pieter J.L.M.;
- Rutten, Wim P.F.;
- Sandkuijl, Lodewijk A.;
- Oostra, Ben A.;
- van Duijn, Cornelia M.;
- Heutink, Peter
Publication type:
Article
17β-Hydroxysteroid Dehydrogenase-3 Deficiency: Diagnosis, Phenotypic Variability, Population Genetics, and Worldwide Distribution of Ancient and de Novo Mutations.
Published in:
Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 12, p. 4713, doi. 10.1210/jc.84.12.4713
By:
- BOEHMER, ANNEMIE L. M.;
- BRINKMANN, ALBERT O.;
- SANDKUIJL, LODEWIJK A.;
- HALLEY, DICKY J. J.;
- NIERMEIJER, MARTINUS F.;
- ANDERSSON, STEFAN;
- DE JONG, FRANK H.;
- KAYSERILI, HÜLYA;
- DE VROEDE, MONIQUE A.;
- OTTEN, BARTO J.;
- ROUWÉ, CATRIENUS W.;
- MENDONÇA, BERENICE B.;
- RODRIGUES, CIDADE;
- BODE, HANS H.;
- DE RUITER, PETRA E.;
- DELEMARRE-VAN DE WAAL, HENRIETTE A.;
- DROP, STENVERT L. S.
Publication type:
Article
Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families.
Published in:
2008
By:
- de Snoo, Femke A;
- Hottenga, Jouke-Jan;
- Gillanders, Elizabeth M;
- Sandkuijl, Lodewijk A;
- Jones, Mary Pat;
- Bergman, Wilma;
- van der Drift, Clasine;
- van Leeuwen, Inge;
- van Mourik, Leny;
- Huurne, Jeanet A C ter;
- Frants, Rune R;
- Willemze, Rein;
- Breuning, Martijn H;
- Trent, Jeffrey M;
- Gruis, Nelleke A
Publication type:
Correction Notice
Linkage disequilibrium in young genetically isolated Dutch population.
Published in:
European Journal of Human Genetics, 2004, v. 12, n. 7, p. 527, doi. 10.1038/sj.ejhg.5201188
By:
- Aulchenko, Yurii S.;
- Heutink, Peter;
- Mackay, Ian;
- Bertoli-Avella, Aida M.;
- Pullen, Jan;
- Vaessen, Norbert;
- Rademaker, Tessa AM;
- Sandkuijl, Lodewijk A.;
- Cardon, Lon;
- Oostra, Ben;
- van Duijn, Cornelia M.
Publication type:
Article
Candidate gene approach in association studies: would the factor V Leiden mutation have been found by this approach?
Published in:
European Journal of Human Genetics, 2004, v. 12, n. 6, p. 478, doi. 10.1038/sj.ejhg.5201183
By:
- Vlieg, Astrid van Hylckama;
- Sandkuijl, Lodewijk A.;
- Rosendaal, Frits R.;
- Bertina, Rogier M.;
- Vos, Hans L.
Publication type:
Article
Sharing of a conserved haplotype suggests a susceptibility gene for multiple sclerosis at chromosome 17p11.
Published in:
European Journal of Human Genetics, 2002, v. 10, n. 4, p. 271, doi. 10.1038/sj.ejhg.5200802
By:
- He, Bing;
- Giedraitis, Vilmantas;
- Ligers, Arturs;
- Binzer, Michael;
- Andersen, Peter M.;
- Forsgren, Lars;
- Sandkuijl, Lodewijk A.;
- Hillert, Jan
Publication type:
Article
X-linked recessive inheritance of radial ray deficiencies in a family with four affected males.
Published in:
European Journal of Human Genetics, 2001, v. 9, n. 9, p. 653, doi. 10.1038/sj.ejhg.5200692
By:
- Galjaard, Robert-Jan H;
- Kostakoglu, Naci;
- Hoogeboom, Jeannette J M;
- Breedveld, Guido J;
- van der Linde, Herma C;
- Hovius, Steven ER;
- Oostra, Ben A;
- Sandkuijl, Lodewijk A;
- Akarsu, A Nurten;
- Heutink, Peter
Publication type:
Article
Novel mutations in the Na<sup>+</sup>, K<sup>+</sup>-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions.
Published in:
Annals of Neurology, 2003, v. 54, n. 3, p. 360
By:
- Kaate R. J. Vanmolkot;
- Esther E. Kors;
- Jouke-Jan Hottenga;
- Gisela M. Terwindt;
- Joost Haan;
- Wil A. J. Hoefnagels;
- David F. Black;
- Lodewijk A. Sandkuijl;
- Rune R. Frants;
- Michel D. Ferrari
Publication type:
Article
Genetics of Seven Dutch Familial Atypcial Multiple Mole-Menaloma Syndrome Families: A Review of Linkage Results Including Chromosomes 1 and 9.
Published in:
Journal of Investigative Dermatology, 1994, v. 103, p. 122S, doi. 10.1038/jid.1994.22
By:
- Bergman, Wilma;
- Gruis, Nelleke A.;
- Sandkuijl, Lodewijk A.;
- Frants, Rune R.
Publication type:
Article
A genome-wide search for genes involved in type 2 diabetes in a recently genetically isolated population from the Netherlands.
Published in:
2003
By:
- Aulchenko, Yurii S.;
- Vaessen, Norbert;
- Heutink, Peter;
- Pullen, Jan;
- Snijders, Pieter J. L. M.;
- Hofman, Albert;
- Sandkuijl, Lodewijk A.;
- Houwing-Duistermaat, Jeanine J.;
- Edwards, Mark;
- Bennett, Simon;
- Oostra, Ben A.;
- van Duijn, Cornelia M.
Publication type:
journal article
A genome-wide search for linkage-disequilibrium with type 1 diabetes in a recent genetically isolated population from the Netherlands.
Published in:
2002
By:
- Vaessen, Norbert;
- Heutink, Peter;
- Houwing-Duistermaat, Jeanine J.;
- Snijders, Pieter J.L.M.;
- Rdemaker, Tessa;
- Testers, Leon;
- Batstra, Manou R.;
- Sandkuijl, Lodewijk A.;
- van Duijn, Cornelia M.;
- Oostra, Ben A.;
- Rademaker, Tessa
Publication type:
journal article
Variance-Component Analysis of Obesity in Type 2 Diabetes Confirms Loci on Chromosomes 1q and 11q.
Published in:
Obesity (19307381), 2003, v. 11, n. 11, p. 1290, doi. 10.1038/oby.2003.175
By:
- van Tilburg, Jonathan H.O.;
- Sandkuijl, Lodewijk A.;
- Strengman, Eric;
- Pearson, Peter L.;
- van Haeften, Timon W.;
- Wijmenga, Cisca
Publication type:
Article
Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity.
Published in:
Human Molecular Genetics, 2000, v. 9, n. 19, p. 2879, doi. 10.1093/hmg/9.19.2879
By:
- Overveld, Petra G.M. van;
- Lemmers, Richard J.F.L.;
- Deidda, Giancarlo;
- Sandkuijl, Lodewijk;
- Padberg, George W.;
- Frants, Rune R.;
- van der Maarel, Silvère M.
Publication type:
Article
Maximum-likelihood estimation in linkage heterogeneity models including additional information via the EM algorithm.
Published in:
Genetic Epidemiology, 1995, v. 12, n. 5, p. 515, doi. 10.1002/gepi.1370120509
By:
- Houwing-Duistermaat, Jeanine J.;
- Sandkuijl, Lodewijk A.;
- Bergen, Arthur A. B.;
- van Houwelingen, Hans C.
Publication type:
Article
Linkage Analysis under Locus Heterogeneity: Behaviour of the A-Test in Complex Analyses.
Published in:
Human Heredity, 1997, v. 47, n. 4, p. 223, doi. 10.1159/000154416
By:
- Janssen, Bart;
- Halley, Dicky;
- Sandkuijl, Lodewijk
Publication type:
Article
Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11.
Published in:
Human Molecular Genetics, 1994, v. 3, n. 1, p. 167
By:
- Wu, Yuan-Qing;
- Heutink, Peter;
- de Vries, Bert B. A.;
- Sandkuijl, Lodewijk A.;
- van den Ouweland, Ans M. W.;
- Niermeijer, Martinus F.;
- Galjaard, Hans;
- Reyniers, Edwin;
- Willems, Patrick J.;
- J. J.Halley, Dicky
Publication type:
Article
A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 1, p. 7
By:
- Heutink, Peter;
- Mey, Andel G. L. van der;
- Sandkuijl, Lodewijk A.;
- Gils, Ad P. G. van;
- Bardoel, Alfons;
- Breedveld, Guido J.;
- Vliet, Margreethe van;
- Ommen, Gert-Jan B. van;
- Cornelisse, Cees J.;
- Oostra, Ben A.;
- Weber, Jim L.;
- Devilee, Peter
Publication type:
Article
A Genomewide Screen in a Four-Generation Dutch Family with Celiac Disease: Evidence for Linkage to Chromosomes 6 and 9.
Published in:
American Journal of Gastroenterology (Springer Nature), 2004, v. 99, n. 3, p. 466, doi. 10.1111/j.1572-0241.2004.04072.x
By:
- Belzen, Martine J. van;
- Vrolijk, Martine M.;
- Meijer, Jos W.R.;
- Crusius, J. Bart A.;
- Pearson, Peter L.;
- Sandkuijl, Lodewijk A.;
- Houwen, Roderick H. J.;
- Wijmenga, Cisca
Publication type:
Article

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