- Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations
[作者：Einarsdottir, E; Bevova, MR; Zhernakova, A; Monsuur, A; Koskinen, LLE; van't Slot, R; Mulder, C; Mearin, ML; Korponay-Szabo, IR; Kaukinen, K; Kurppa, K; Kere, J; Maki, M; Wijmenga, C; Saavalainen, P,期刊：European Journal of Human Genetics, 页码：682-686 , 文章类型： Article，,卷期：2011年19-6]
- Celiac disease is an inflammatory enteropathy caused by intolerance to gluten. Previous linkage studies in the Dutch, Finnish and Hungarian populations have revealed a locus on chromosome 6q21-22 conferring susceptibilit...
- Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population
[作者：Villanueva, P; Newbury, DF; Jara, L; De Barbieri, Z; Mirza, G; Palomino, HM; Fernandez, MA; Cazier, JB; Monaco, AP; Palomino, H,期刊：European Journal of Human Genetics, 页码：687-695 , 文章类型： Article，,卷期：2011年19-6]
- Specific language impairment (SLI) is an unexpected deficit in the acquisition of language skills and affects between 5 and 8% of pre-school children. Despite its prevalence and high heritability, our understanding of th...
- Pathway-based identification of SNPs predictive of survival
[作者：Pang, H; Hauser, M; Minvielle, S,期刊：European Journal of Human Genetics, 页码：704-709 , 文章类型： Article，,卷期：2011年19-6]
- In recent years, several association analysis methods for case-control studies have been developed. However, as we turn towards the identification of single nucleotide polymorphisms (SNPs) for prognosis, there is a need ...
- Bivariate association analysis in selected samples: application to a GWAS of two bone mineral density phenotypes in males with high or low BMD
[作者：Saint-Pierre, A; Kaufman, JM; Ostertag, A; Cohen-Solal, M; Boland, A; Toye, K; Zelenika, D; Lathrop, M; de Vernejoul, MC; Martinez, M,期刊：European Journal of Human Genetics, 页码：710-716 , 文章类型： Article，,卷期：2011年19-6]
- Our specific aims were to evaluate the power of bivariate analysis and to compare its performance with traditional univariate analysis in samples of unrelated subjects under varying sampling selection designs. Bivariate ...
- Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1
[作者：Jensen, LR; Chen, W; Moser, B; Lipkowitz, B; Schroeder, C; Musante, L; Tzschach, A; Kalscheuer, VM; Meloni, I; Raynaud, M; van Esch, H; Chelly, J; de Brouwer, APM; Hackett, A; van der Haar, S; Henn, W; Gecz, J; Riess, O; Bonin, M; Reinhardt, R; Ropers, HH; Kuss, AW,期刊：European Journal of Human Genetics, 页码：717-720 , 文章类型： Article，,卷期：2011年19-6]
- X-linked intellectual disability (XLID), also known as X-linked mental retardation, is a highly genetically heterogeneous condition for which mutations in >90 different genes have been identified. In this study, we used ...
- Common variants near TERC are associated with leukocyte telomere length in the Chinese Han population
[作者：Shen, Q; Zhang, Z; Yu, L; Cao, L; Zhou, DZ; Kan, MY; Li, BJ; Zhang, D; He, L; Liu, Y,期刊：European Journal of Human Genetics, 页码：721-723 , 文章类型： Article，,卷期：2011年19-6]
- A recent genome-wide association study has identified an association between leukocyte telomere length (LTL) and a locus at 3q26 that includes TERC. In order to evaluate the effects of the SNPs rs12696304 and rs16847897 ...
- TSEN54 mutations cause pontocerebellar hypoplasia type 5
[作者：Namavar, Y; Chitayat, D; Barth, PG; van Ruissen, F; de Wissel, MB; Poll-The, BT; Silver, R; Baas, F,期刊：European Journal of Human Genetics, 页码：724-726 , 文章类型： Article，,卷期：2011年19-6]
- Pontocerebellar hypoplasia (PCH) is a group of autosomal recessive neurodegenerative disorders characterized by prenatal onset of stunted brain growth and progressive atrophy predominantly affecting cerebellum, pons and ...
- Reduced transcript expression of genes affected by inherited and de novo CNVs in autism
[作者：Nord, AS; Roeb, W; Dickel, DE; Walsh, T; Kusenda, M; O'Connor, KL; Malhotra, D; McCarthy, SE; Stray, SM; Taylor, SM; Sebat, J; King, B; King, MC; McClellan, JM,期刊：European Journal of Human Genetics, 页码：727-731 , 文章类型： Article，,卷期：2011年19-6]
- Individuals with autism are more likely to carry rare inherited and de novo copy number variants (CNVs). However, further research is needed to establish which CNVs are causal and the mechanisms by which these CNVs influ...
- Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?
[作者：Barnett, CP; Chitayat, D; Bradley, TJ; Wang, YT; Hinek, A,期刊：European Journal of Human Genetics, 页码：624-633 , 文章类型： Article，,卷期：2011年19-6]
- Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by facial dysmorphism, cleft palate, dilation of the aortic arch, blood vessel tortuosity and a high risk of aortic dissection....
- Translocation breakpoint at 7q31 associated with tics: further evidence for IMMP2L as a candidate gene for Tourette syndrome
[作者：Patel, C; Cooper-Charles, L; McMullan, DJ; Walker, JM; Davison, V; Morton, J,期刊：European Journal of Human Genetics, 页码：634-639 , 文章类型： Article，,卷期：2011年19-6]
- Gilles de la Tourette syndrome is a complex neuropsychiatric disorder with a strong genetic basis. We identified a male patient with Tourette syndrome-like tics and an apparently balanced de novo translocation [46, XY, t...
- Parents' and children's communication about genetic risk: a qualitative study, learning from families' experiences
[作者：Metcalfe, A; Plumridge, G; Coad, J; Shanks, A; Gill, P,期刊：European Journal of Human Genetics, 页码：640-646 , 文章类型： Article，,卷期：2011年19-6]
- Little is known about how parents explain to their children their risk of inheriting a gene that may cause disease in the child or in the child's future progeny. This study explored how genetic risk information is shared...
- Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation
[作者：Ben Yaou, R; Navarro, C; Quijano-Roy, S; Bertrand, AT; Massart, C; De Sandre-Giovannoli, A; Cadinanos, J; Mamchaoui, K; Butler-Browne, G; Estournet, B; Richard, P; Barois, A; Levy, N; Bonne, G,期刊：European Journal of Human Genetics, 页码：647-654 , 文章类型： Article，,卷期：2011年19-6]
- Mutation in ZMPSTE24 gene, encoding a major metalloprotease, leads to defective prelamin A processing and causes type B mandibuloacral dysplasia, as well as the lethal neonatal restrictive dermopathy syndrome. Phenotype ...
- Genome-wide association study confirms extant PD risk loci among the Dutch
[作者：Simon-Sanchez, J; van Hilten, JJ; van de Warrenburg, B; Post, B; Berendse, HW; Arepalli, S; Hernandez, DG; de Bie, RMA; Velseboer, D; Scheffer, H; Bloem, B; van Dijk, KD; Rivadeneira, F; Hofman, A; Uitterlinden, AG; Rizzu, P; Bochdanovits, Z; Singleton, AB; Heutink, P,期刊：European Journal of Human Genetics, 页码：655-661 , 文章类型： Article，,卷期：2011年19-6]
- In view of the population-specific heterogeneity in reported genetic risk factors for Parkinson's disease (PD), we conducted a genome-wide association study (GWAS) in a large sample of PD cases and controls from the Neth...
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