Výsledky vyhledávání - "Sandkuijl, L A"

Variance-component analysis of obesity in Type 2 Diabetes confirms loci on chromosomes 1q and 11q

Autor: Tilburg, J. H. O., Sandkuijl, L. A., Strengman, E., Pearson, P. L., Haeften, T. W., Cisca Wijmenga

Publikováno v: Scopus-Elsevier
Obesity Research, 11(11), 1290. NAASO

To study genetic loci influencing obesity in nuclear families with type 2 diabetes, we performed a genome-wide screen with 325 microsatellite markers that had an average spacing of 11 cM and a mean heterozygosity of ~75% covering all 22 autosomes. Ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9c3c105adfe9909ac6fb5c6192865ac4
https://dspace.library.uu.nl/handle/1874/12065

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Rapid N-acetyltransferase 2 imputed phenotype and smoking may increase risk of colorectal cancer in women (Netherlands)

Autor: van der Hel, OL, de Mesquita, HBB, Sandkuijl, L, van Noord, PAH, Pearson, PL, Grobbee, DE, Peeters, PHM

Publikováno v: Cancer causes & control, 14(3), 293-298. SPRINGER

Objective: The relationship between smoking and colorectal cancer risk and whether such effect is modified by variations in the NAT2 genotype is investigated. Methods: In the prospective DOM (Diagnostisch Onderzoek Mammacarcinoom; 27,722 women) cohor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::dbda7851fc0165ae684fd9fdf6ce7b95
https://research.rug.nl/en/publications/22d7b213-aa65-49ba-ad64-cdaf710df66b

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

Autor: de Vries, B B, van den Ouweland, A M, Mohkamsing, S, Duivenvoorden, H J, Mol, E, Gelsema, K, van Rijn, M, Halley, D J, Sandkuijl, L A, Oostra, B A, Tibben, A, Niermeijer, M F

The fragile X syndrome is an X-linked mental retardation disorder caused by an expanded CGG repeat in the first exon of the fragile X mental retardation (FMR1) gene. Its frequency, X-linked inheritance, and consequences for relatives all prompt for d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6765f5e57e4b28be14932a04874417d5
https://europepmc.org/articles/PMC1715962/

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Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes

Autor: Mitchison, H. M., O Rawe, A. M., Taschner, P. E. M., Sandkuijl, L. A., Santavuori, P., Vos, N., Breuning, M. H., Sara Mole, Mark Gardiner, R., Järvelä, I. E.

Publikováno v: American Journal of Human Genetics, 56(3), 654-662. CELL PRESS
Scopus-Elsevier

The gene for Batten disease (juvenile-onset neuronal ceroid lipofuscinosis, or Spielmeyer-Sjogren disease), CLN3, maps to 16p11.2-12.1. Four microsatellite markers-D16S288, D16S299, D16S298, and SPN-are in strong linkage disequilibrium with CLN3 in 1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::10d54c4b6a7db8bae053bdca590d94be
https://research.rug.nl/en/publications/69956684-2d46-4c43-b4bf-0868502f25ee

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Maximum-likelihood estimation in linkage heterogeneity models including additional information via the EM algorithm

Autor: Houwing-Duistermaat, J. J., Sandkuijl, L. A., Bergen, A. A., van Houwelingen, H. C.

Publikováno v: Genetic epidemiology, 12(5), 515-527. Wiley-Liss Inc.

In linkage analysis, estimated recombination fractions between a disease gene and several markers are used to assign the disease gene to a particular chromosome region. For rare diseases, locus heterogeneity leads to different recombination fractions

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::f3cc43cf4523361cddb4bd3934581ae0
https://pure.amc.nl/en/publications/maximumlikelihood-estimation-in-linkage-heterogeneity-models-including-additional-information-via-the-em-algorithm(e892cbba-c83c-4149-9682-873e432686a3).html

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Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

Autor: Peters, D. J. M., Spruit, L., Saris, J. J., Ravine, D., Sandkuijl, L. A., Fossdal, R., Boersma, J., van Eijk, R., Nørby, S., Constantinou-Deltas, Constantinos D., Pierides, Alkis M., Briessenden, J. E., Frants, R. R., van Ommen, G. -J B., Breuning, M. H.

Publikováno v: Nature genetics
Nat.Genet.

Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder. A gene defect located on the short arm of chromosome 16 is responsible for the disease in roughly 86% of affected European families. Using highly polymorphi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33d3d71b3a117a46f8f994a4348c9f7a
http://gnosis.library.ucy.ac.cy/handle/7/53300

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