- Ischaemic stroke in hypertensive patients is associated with variations in the PDE4D genome region
[作者：Lovkvist, H; Smith, JG; Luthman, H; Hoglund, P; Norrving, B; Kristoffersson, U; Jonsson, AC; Lindgren, AG,期刊：European Journal of Human Genetics, 页码：1117-1125 , 文章类型： Article，,卷期：2008年16-9]
- Previous Icelandic studies reported that single nucleotide polymorphisms (SNPs) in the phosphodiesterase 4D (PDE4D) region and the 5-lipoxygenase activating protein ALOX5AP were associated with ischaemic stroke, whereas ...
- Preferential reciprocal transfer of paternal/maternal DLK1 alleles to obese children: first evidence of polar overdominance in humans
[作者：Wermter, AK; Scherag, A; Meyre, D; Reichwald, K; Durand, E; Nguyen, TT; Koberwitz, K; Lichtner, P; Meitinger, T; Schafer, H; Hinney, A; Froguel, P; Hebebrand, J; Bronner, G,期刊：European Journal of Human Genetics, 页码：1126-1134 , 文章类型： Article，,卷期：2008年16-9]
- DLK1 is part of the Notch signalling pathway that controls various developmental processes. A functional role for DLK1 in adipogenesis is suggested by several animal models. Interestingly, the DLK1 gene is imprinted in e...
- Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families
[作者：de Snoo, FA; Hottenga, JJ; Gillanders, EM; Sandkuijl, LA; Jones, MP; Bergman, W; van der Drift, C; van Leeuwen, I; van Mourik, L; ter Huurne, JAC; Frants, RR; Willemze, R; Breuning, MH; Trent, JM; Gruis, NA,期刊：European Journal of Human Genetics, 页码：1135-1141 , 文章类型： Article，,卷期：2008年16-9]
- In most Dutch melanoma families, a founder deletion in the melanoma susceptibility gene CDKN2A (which encodes p16) is present. This founder deletion (p16-Leiden) accounts for a significant proportion of the increased mel...
- Evaluation of HapMap data in six populations of European descent
[作者：Lundmark, PE; Liljedahl, U; Boomsma, DI; Mannila, H; Martin, NG; Palotie, A; Peltonen, L; Perola, M; Spector, TD; Syvanen, AC,期刊：European Journal of Human Genetics, 页码：1142-1150 , 文章类型： Article，,卷期：2008年16-9]
- We studied how well the European CEU samples used in the Haplotype Mapping Project (HapMap) represent five European populations by analyzing nuclear family samples from the Swedish, Finnish, Dutch, British and Australian...
- Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24
[作者：Everett, KV; Capon, F; Georgoula, C; Chioza, BA; Reece, A; Jaswon, M; Pierro, A; Puri, P; Gardiner, RM; Chung, EMK,期刊：European Journal of Human Genetics, 页码：1151-1154 , 文章类型： Article，,卷期：2008年16-9]
- Infantile hypertrophic pyloric stenosis (IHPS) is the most common inherited form of gastrointestinal obstruction in infancy. The disease is considered a paradigm for the sex-modified model of multifactorial inheritance a...
- HuGE Watch: tracking trends and patterns of published studies of genetic association and human genome epidemiology in near-real time
[作者：Yu, W; Wulf, A; Yesupriya, A; Clyne, M; Khoury, MJ; Gwinn, M,期刊：European Journal of Human Genetics, 页码：1155-1158 , 文章类型： Article，,卷期：2008年16-9]
- HuGE Watch is a web-based application for tracking the evolution of published studies on genetic association and human genome epidemiology in near-real time. The application allows users to display temporal trends and sp...
- Patenting and licensing in genetic testing - Recommendations of the European Society of Human Genetics (vol 16, pg 405, 2008)
[作者：Ayme, S; Matthijs, G; Anastasiadou, V; Atalar, F; Braga, S; Burn, J; Cassiman, JJ; Cornel, M; Coviello, D; Evers-Kiebooms, G; Gorry, P; Hodgson, S; Kaariainen, H; Kosztolanyi, G; Kristoffersson, U; Macek, M; Patch, C; Schmidtke, J; Sequeiros, J; Stoppa-Lyonnet, D; Tranebjaerg, L; van Heyningen, V; Van Ommen, GJ,期刊：European Journal of Human Genetics, 页码：1159-1159 , 文章类型： Correction，,卷期：2008年16-9]
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- MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression
[作者：Frints, SGM; Lenzner, S; Bauters, M; Jensen, LR; Van Esch, H; des Portes, V; Moog, U; Macville, MVE; van Roozendaal, K; Schrander-Stumpel, CTRM; Tzschach, A; Marynen, P; Fryns, JP; Hamel, B; van Bokhoven, H; Chelly, J; Beldjord, C; Turner, G; Gecz, J; Moraine, C; Raynaud, M; Ropers, HH; Froyen, G; Kuss, AW,期刊：European Journal of Human Genetics, 页码：1029-1037 , 文章类型： Article，,卷期：2008年16-9]
- Mutations in the thyroid monocarboxylate transporter 8 gene (MCT8/SLC16A2) have been reported to result in X-linked mental retardation (XLMR) in patients with clinical features of the Allan-Herndon-Dudley syndrome (AHDS)...
- Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase
[作者：Micale, L; Fusco, C; Augello, B; Napolitano, LMR; Dermitzakis, ET; Meroni, G; Merla, G; Reymond, A,期刊：European Journal of Human Genetics, 页码：1038-1049 , 文章类型： Article，,卷期：2008年16-9]
- Williams-Beuren syndrome (WBS) is a neurodevelopmental and multisystemic disease that results from hemizygosity of approximately 25 genes mapping to chromosomal region 7q11.23. We report here the preliminary description ...
- A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix-Saguenay
[作者：Breckpot, J; Takiyama, Y; Thienpont, B; Van Vooren, S; Vermeesch, JR; Ortibus, E; Devriendt, K,期刊：European Journal of Human Genetics, 页码：1050-1054 , 文章类型： Article，,卷期：2008年16-9]
- We report a Belgian patient with early-onset cerebellar ataxia, progressive spasticity, learning difficulties and moderate perceptive hearing loss. Array-Comparative Genomic Hybridisation (aCGH) detected a 1.54 Mb deleti...
- Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin
[作者：Lehtokari, VL; Pelin, K; Donner, K; Voit, T; Rudnik-Schoneborn, S; Stoetter, M; Talim, B; Topaloglu, H; Laing, NG; Wallgren-Pettersson, C,期刊：European Journal of Human Genetics, 页码：1055-1061 , 文章类型： Article，,卷期：2008年16-9]
- To date, six genes are known to cause nemaline (rod) myopathy (NM), a rare congenital neuromuscular disorder. In an attempt to find a seventh gene, we performed linkage and subsequent sequence analyses in 12 Turkish fami...
- Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations
[作者：Frank-Hansen, R; Page, SP; Syrris, P; McKenna, WJ; Christiansen, M; Andersen, PS,期刊：European Journal of Human Genetics, 页码：1062-1069 , 文章类型： Article，,卷期：2008年16-9]
- Hypertrophic cardiomyopathy is primarily caused by mutations in genes encoding cardiac sarcomere proteins. Large screening studies identify mutations in 35-65% of the diagnosed patients and 15-30% of these are discovered...
- Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene
[作者：Turkmen, S; Hoffmann, K; Demirhan, O; Aruoba, D; Humphrey, N; Mundlos, S,期刊：European Journal of Human Genetics, 页码：1070-1074 , 文章类型： Article，,卷期：2008年16-9]
- The cerebellum is the primary motor coordination centre of the central nervous system. Lesions or congenital defects of the cerebellum cause incoordination of the muscles resulting in irregular gait and falling. Recently...
- Catechol O-methyl transferase and dopamine D2 receptor gene polymorphisms: evidence of positive heterosis and gene-gene interaction on working memory functioning
[作者：Gosso, MF; de Geus, EJC; Polderman, TJC; Boomsma, DI; Heutink, P; Posthuma, D,期刊：European Journal of Human Genetics, 页码：1075-1082 , 文章类型： Article，,卷期：2008年16-9]
- The COMT Val(108/158)Met polymorphism has been extensively studied in relation to individual differences in working memory (WM) performance. The present study tested the association of the COMT Val(108/158)Met polymorphi...
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