- Linkage and candidate gene studies of autism spectrum disorders in European populations
[作者：Holt, R; Barnby, G; Maestrini, E; Bacchelli, E; Brocklebank, D; Sousa, I; Mulder, EJ; Kantojarvi, K; Jarvela, I; Klauck, SM; Poustka, F; Bailey, AJ; Monaco, AP,期刊：European Journal of Human Genetics, 页码：1013-1019 , 文章类型： Article，,卷期：2010年18-9]
- Over the past decade, research on the genetic variants underlying susceptibility to autism and autism spectrum disorders (ASDs) has focused on linkage and candidate gene studies. This research has implicated various chro...
- Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study
[作者：Newby, PR; Pickles, OJ; Mazumdar, S; Brand, OJ; Carr-Smith, JD; Pearce, SHS; Franklyn, JA; Evans, DM; Simmonds, MJ; Gough, SCL,期刊：European Journal of Human Genetics, 页码：1021-1026 , 文章类型： Article，,卷期：2010年18-9]
- A recent association scan using a genome-wide set of nonsynonymous coding single-nucleotide polymorphisms (nsSNPs) conducted in four diseases including Graves' disease (GD), identified nine novel possible regions of asso...
- Evidence for both copy number and allelic (NA1/NA2) risk at the FCGR3B locus in systemic lupus erythematosus
[作者：Morris, DL; Roberts, AL; Witherden, AS; Tarzi, R; Barros, P; Whittaker, JC; Cook, TH; Aitman, TJ; Vyse, TJ,期刊：European Journal of Human Genetics, 页码：1027-1031 , 文章类型： Article，,卷期：2010年18-9]
- The Fc gamma-receptor locus on chromosome 1q23 shows copy-number variation (CNV), and it has previously been shown that individuals with reduced numbers of copies of the Fc gamma-receptor-IIIB gene (FCGR3B) have an incre...
- Sporadic cases are the norm for complex disease
[作者：Yang, JA; Visscher, PM; Wray, NR,期刊：European Journal of Human Genetics, 页码：1039-1043 , 文章类型： Article，,卷期：2010年18-9]
- The results of genome-wide association studies have revealed that most human complex diseases (for example, cancer, diabetes and psychiatric disorders) are affected by a large number of variants, each of which explains a...
- Genome-wide gene and pathway analysis
[作者：Luo, L; Peng, G; Zhu, Y; Dong, H; Amos, CI; Xiong, MM,期刊：European Journal of Human Genetics, 页码：1045-1053 , 文章类型： Article，,卷期：2010年18-9]
- Current GWAS have primarily focused on testing association of single SNPs. To only test for association of single SNPs has limited utility and is insufficient to dissect the complex genetic structure of many common disea...
- Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease
[作者：Mochel, F; Duteil, S; Marelli, C; Jauffret, C; Barles, A; Holm, J; Sweetman, L; Benoist, JF; Rabier, D; Carlier, PG; Durr, A,期刊：European Journal of Human Genetics, 页码：1057-1060 , 文章类型： Article，,卷期：2010年18-9]
- We previously identified a systemic metabolic defect associated with early weight loss in patients with Huntington's disease (HD), suggesting a lack of substrates for the Krebs cycle. Dietary anaplerotic therapy with tri...
- Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30
[作者：Su, CC; Li, SY; Su, MC; Chen, WC; Yang, JJ,期刊：European Journal of Human Genetics, 页码：1061-1064 , 文章类型： Article，,卷期：2010年18-9]
- Hearing impairment is the most common sensory disorder worldwide. In a recent study, the authors have shown that a heterozygous missense mutation, p. R184Q, in the connexin 26 (Cx26) is causally related to hearing loss. ...
- A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)
[作者：Schlipf, NA; Beetz, C; Schule, R; Stevanin, G; Erichsen, AK; Forlani, S; Zaros, C; Karle, K; Klebe, S; Klimpe, S; Durr, A; Otto, S; Tallaksen, CME; Riess, O; Brice, A; Bauer, P; Schols, L,期刊：European Journal of Human Genetics, 页码：1065-1067 , 文章类型： Article，,卷期：2010年18-9]
- The most frequent causes of autosomal dominant (AD) hereditary spastic paraplegias (HSP) (ADHSP) are mutations in the SPAST gene (SPG4 locus). However, roughly 60% of patients are negative for SPAST mutations, despite th...
- Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2)
[作者：Rahner, N; Steinke, V; Schlegelberger, B; Olschwang, S; Eisinger, F; Hutter, P,期刊：European Journal of Human Genetics, 页码：1068-1068 , 文章类型： Article，,卷期：2010年18-9]
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- Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1)
[作者：Schwinger, E; Devriendt, K; Rauch, A; Philip, N,期刊：European Journal of Human Genetics, 页码：1068-1068 , 文章类型： Article，,卷期：2010年18-9]
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- Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]
[作者：Arslan-Kirchner, M; Arbustini, E; Boileau, C; Child, A; Collod-Beroud, G; De Paepe, A; Epplen, J; Jondeau, G; Loeys, B; Faivre, L,期刊：European Journal of Human Genetics, 页码：1068-1068 , 文章类型： Article，,卷期：2010年18-9]
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