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文章名     作者     期刊名     摘要     卷     期         如果没有找到您所需要的文献，请点击 ——此处申请     共19条记录   Replication of genetic variants from genome-wide association studies with metabolic traits in an island population of the Adriatic coast of Croatia [作者：Karns, R; Zhang, G; Jeran, N; Havas-Augustin, D; Missoni, S; Niu, W; Indugula, SR; Sun, GY; Durakovic, Z; Narancic, NS; Rudan, P; Chakraborty, R; Deka, R,期刊：European Journal of Human Genetics, 页码：341-346 , 文章类型： Article，,卷期：2011年19-3] Twenty-two single-nucleotide polymorphisms (SNPs) in 10 gene regions previously identified in obesity and type 2 diabetes (T2D) genome-wide association studies (GWAS) were evaluated for association with metabolic traits ... The clinical spectrum of complete FBN1 allele deletions [作者：Hilhorst-Hofstee, Y; Hamel, BC; Verheij, JBGM; Rijlaarsdam, MEB; Mancini, GMS; Cobben, JM; Giroth, C; Ruivenkamp, CAL; Hansson, KBM; Timmermans, J; Moll, HA; Breuning, MH; Pals, G,期刊：European Journal of Human Genetics, 页码：247-252 , 文章类型： Article，,卷期：2011年19-3] The most common mutations found in FBN1 are missense mutations (56%), mainly substituting or creating a cysteine in a cbEGF domain. Other mutations are frameshift, splice and nonsense mutations. There are only a few repo... SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency [作者：Schlotawa, L; Ennemann, EC; Radhakrishnan, K; Schmidt, B; Chakrapani, A; Christen, HJ; Moser, H; Steinmann, B; Dierks, T; Gartner, J,期刊：European Journal of Human Genetics, 页码：253-261 , 文章类型： Article，,卷期：2011年19-3] Multiple Sulfatase Deficiency (MSD) is caused by mutations in the sulfatase-modifying factor 1 gene encoding the formylglycine-generating enzyme (FGE). FGE post translationally activates all newly synthesized sulfatases ... A genome-wide analysis of population structure in the Finnish Saami with implications for genetic association studies [作者：Huyghe, JR; Fransen, E; Hannula, S; Van Laer, L; Van Eyken, E; Maki-Torkko, E; Aikio, P; Sorri, M; Huentelman, MJ; Van Camp, G,期刊：European Journal of Human Genetics, 页码：347-352 , 文章类型： Article，,卷期：2011年19-3] The understanding of patterns of genetic variation within and among human populations is a prerequisite for successful genetic association mapping studies of complex diseases and traits. Some populations are more favorab... Family-based association study of ITGB3 in autism spectrum disorder and its endophenotypes [作者：Napolioni, V; Lombardi, F; Sacco, R; Curatolo, P; Manzi, B; Alessandrelli, R; Militerni, R; Bravaccio, C; Lenti, C; Saccani, M; Schneider, C; Melmed, R; Pascucci, T; Puglisi-Allegra, S; Reichelt, KL; Rousseau, F; Lewin, P; Persico, AM,期刊：European Journal of Human Genetics, 页码：353-359 , 文章类型： Article，,卷期：2011年19-3] The integrin-beta 3 gene (ITGB3), located on human chromosome 17q21.3, was previously identified as a quantitative trait locus (QTL) for 5-HT blood levels and has been implicated as a candidate gene for autism spectrum d... Relation of a common variant of the adiponectin gene to serum adiponectin concentration and metabolic traits in an aged Japanese population [作者：Tanimura, D; Shibata, R; Izawa, H; Hirashiki, A; Asano, H; Murase, Y; Miyata, S; Nakatochi, M; Ouchi, N; Ichihara, S; Yasui, K; Yoshida, T; Naruse, K; Matsubara, T; Yokota, M,期刊：European Journal of Human Genetics, 页码：262-269 , 文章类型： Article，,卷期：2011年19-3] Adiponectin is an adipocyte-derived protein that is down-regulated in obesity-linked disorders. Variants of the adiponectin gene (ADIPOQ) have been shown to affect adiponectin level. We have now examined the relation of ... NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease [作者：Hoefs, SJG; van Spronsen, FJ; Lenssen, EWH; Nijtmans, LG; Rodenburg, RJ; Smeitink, JAM; van den Heuvel, LP,期刊：European Journal of Human Genetics, 页码：270-274 , 文章类型： Article，,卷期：2011年19-3] Mitochondrial complex I deficiency is the most common defect of the oxidative phosphorylation system. We report a patient with Leigh syndrome who showed a complex I deficiency expressed in cultured fibroblasts and muscle... An atypical case of hypomethylation at multiple imprinted loci [作者：Baple, EL; Poole, RL; Mansour, S; Willoughby, C; Temple, IK; Docherty, LE; Taylor, R; Mackay, DJG,期刊：European Journal of Human Genetics, 页码：360-362 , 文章类型： Article，,卷期：2011年19-3] Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are caused by genetic and epigenetic mutations of the imprinted gene cluster on chromosome 15q13. Although the imprinting mutations causing PWS and AS are essentiall... A population-based study of polymorphisms in genes related to sex hormones and abdominal aortic aneurysm [作者：Golledge, J; Biros, E; Warrington, N; Jones, GT; Cooper, M; van Rij, AM; Palmer, LJ; Norman, PE,期刊：European Journal of Human Genetics, 页码：363-366 , 文章类型： Article，,卷期：2011年19-3] Male gender and family history are risk factors for abdominal aortic aneurysm (AAA). We hypothesized that genes involved in sex hormones might be important in AAA. We investigated the association of aortic diameter with ... Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle [作者：Smits, P; Antonicka, H; van Hasselt, PM; Weraarpachai, W; Haller, W; Schreurs, M; Venselaar, H; Rodenburg, RJ; Smeitink, JA; van den Heuvel, LP,期刊：European Journal of Human Genetics, 页码：275-279 , 文章类型： Article，,卷期：2011年19-3] The mitochondrial translation system is responsible for the synthesis of 13 proteins required for oxidative phosphorylation (OXPHOS), the major energy-generating process of our cells. Mitochondrial translation is control... Phenotypic manifestations of copy number variation in chromosome 16p13.11 [作者：Nagamani, SCS; Erez, A; Bader, P; Lalani, SR; Scott, DA; Scaglia, F; Plon, SE; Tsai, CH; Reimschisel, T; Roeder, E; Malphrus, AD; Eng, PA; Hixson, PM; Kang, SHL; Stankiewicz, P; Patel, A; Cheung, SW,期刊：European Journal of Human Genetics, 页码：280-286 , 文章类型： Article，,卷期：2011年19-3] The widespread clinical utilization of array comparative genome hybridization, has led to the unraveling of many new copy number variations (CNVs). Although some of these CNVs are clearly pathogenic, the phenotypic conse... A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutieres syndrome associated with mtDNA deletions [作者：Leshinsky-Silver, E; Malinger, G; Ben-Sira, L; Kidron, D; Cohen, S; Inbar, S; Bezaleli, T; Levine, A; Vinkler, C; Lev, D; Lerman-Sagie, T,期刊：European Journal of Human Genetics, 页码：287-292 , 文章类型： Article，,卷期：2011年19-3] Aicardi-Goutieres syndrome (AGS) is a genetic neurodegenerative disorder with clinical symptoms mimicking a congenital viral infection. Five causative genes have been described: three prime repair exonuclease1 (TREX1), r... A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly [作者：Doucette, L; Green, J; Fernandez, B; Johnson, GJ; Parfrey, P; Young, TL,期刊：European Journal of Human Genetics, 页码：293-299 , 文章类型： Article，,卷期：2011年19-3] Anterior segment dysgenesis (ASD) is a spectrum of disorders that affect the anterior ocular chamber. Clinical studies on a Newfoundland family over the past 30 years show that 11 relatives have a variable ocular phenoty... On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations [作者：Hamel, N; Feng, BJ; Foretova, L; Stoppa-Lyonnet, D; Narod, SA; Imyanitov, E; Sinilnikova, O; Tihomirova, L; Lubinski, J; Gronwald, J; Gorski, B; Hansen, TVO; Nielsen, FC; Thomassen, M; Yannoukakos, D; Konstantopoulou, I; Zajac, V; Ciernikova, S; Couch, FJ; Greenwood, CMT; Goldgar, DE; Foulkes, WD,期刊：European Journal of Human Genetics, 页码：300-306 , 文章类型： Article，,卷期：2011年19-3] The BRCA1 mutation c.5266dupC was originally described as a founder mutation in the Ashkenazi Jewish (AJ) population. However, this mutation is also present at appreciable frequency in several European countries, which r... Tumour-specific methylation of PTPRG intron 1 locus in sporadic and Lynch syndrome colorectal cancer [作者：van Roon, EHJ; de Miranda, NFCC; van Nieuwenhuizen, MP; de Meijer, EJ; van Puijenbroek, M; Yan, PS; Huang, THM; van Wezel, T; Morreau, H; Boer, JM,期刊：European Journal of Human Genetics, 页码：307-312 , 文章类型： Article，,卷期：2011年19-3] DNA methylation is a hallmark in a subset of right-sided colorectal cancers. Methylation-based screening may improve prevention and survival rate for this type of cancer, which is often clinically asymptomatic in the ear... Distinctive microRNA expression profiles in CD34+bone marrow cells from patients with myelodysplastic syndrome [作者：Merkerova, MD; Krejcik, Z; Votavova, H; Belickova, M; Vasikova, A; Cermak, J,期刊：European Journal of Human Genetics, 页码：313-319 , 文章类型： Article，,卷期：2011年19-3] MicroRNAs (miRNAs) are small non-coding RNAs functioning as regulators of hematopoiesis. Their differential expression patterns have been linked with various pathological processes originating from hematopoietic stem cel...