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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18条记录   Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes European Society of Human Genetics [作者：Borry, P,期刊：European Journal of Human Genetics, 页码：1271-1273 , 文章类型： Article，,卷期：2010年18-12] Many private companies offer direct-to-consumer (DTC) genetic testing services. Some tests may detect severe and highly penetrant monogenic disorders, while other tests are for genetic variants found associated with incr... Lack of association between a new tag SNP in the FTO gene and BMI in Czech-Slavonic population [作者：Dlouha, D; Adamkova, V; Lanska, V; Hubacek, JA,期刊：European Journal of Human Genetics, 页码：1274-1274 , 文章类型： Letter，,卷期：2010年18-12] Lack of association between a new tag SNP in the FTO gene and BMI in Czech-Slavonic population Reply [作者：Tonjes, A; Kovacs, P; Elliott, K; Zeggini, E; McCarthy, MI; Stumvoll, M,期刊：European Journal of Human Genetics, 页码：1275-1275 , 文章类型： Letter，,卷期：2010年18-12] A standardized framework for the validation and verification of clinical molecular genetic tests [作者：Mattocks, CJ; Morris, MA; Matthijs, G; Swinnen, E; Corveleyn, A; Dequeker, E; Muller, CR; Pratt, V; Wallace, A,期刊：European Journal of Human Genetics, 页码：1276-1288 , 文章类型： Article，,卷期：2010年18-12] The validation and verification of laboratory methods and procedures before their use in clinical testing is essential for providing a safe and useful service to clinicians and patients. This paper outlines the principle... Comparing family members' motivations and attitudes towards genetic testing for hereditary breast and ovarian cancer: a qualitative analysis [作者：Dancyger, C; Smith, JA; Jacobs, C; Wallace, M; Michie, S,期刊：European Journal of Human Genetics, 页码：1289-1295 , 文章类型： Article，,卷期：2010年18-12] Genetic testing for hereditary breast and ovarian cancer reveals significant risk information regarding one's chances of developing cancer that has potential implications for patients and their families. This study repor... The role of disease perceptions and results sharing in psychological adaptation after genetic susceptibility testing: the REVEAL Study [作者：Ashida, S; Koehly, LM; Roberts, JS; Chen, CA; Hiraki, S; Green, RC,期刊：European Journal of Human Genetics, 页码：1296-1301 , 文章类型： Article，,卷期：2010年18-12] This study evaluates the extent to which psychological adaptation (validated measures of depressive symptoms, anxiety, and test-specific distress) after genetic susceptibility testing is influenced by changes in beliefs ... Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions [作者：Bonaglia, MC; Marelli, S; Novara, F; Commodaro, S; Borgatti, R; Minardo, G; Memo, L; Mangold, E; Beri, S; Zucca, C; Brambilla, D; Molteni, M; Giorda, R; Weber, RG; Zuffardi, O,期刊：European Journal of Human Genetics, 页码：1302-1309 , 文章类型： Article，,卷期：2010年18-12] We describe the detailed clinical and molecular characterization of three patients (aged 7, 8(4/12) and 31 years) with overlapping microdeletions in 19p13.12, extending to 19p13.13 in two cases. The patients share the fo... Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q [作者：Kantaputra, PN; Klopocki, E; Hennig, BP; Praphanphoj, V; Le Caignec, C; Isidor, B; Kwee, ML; Shears, DJ; Mundlos, S,期刊：European Journal of Human Genetics, 页码：1310-1314 , 文章类型： Article，,卷期：2010年18-12] Mesomelic dysplasia Kantaputra type (MDK) is characterized by marked mesomelic shortening of the upper and lower limbs originally described in a Thai family. To identify the cause of MDK, we performed array CGH and ident... Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency [作者：Meienberg, J; Rohrbach, M; Neuenschwander, S; Spanaus, K; Giunta, C; Alonso, S; Arnold, E; Henggeler, C; Regenass, S; Patrignani, A; Azzarello-Burri, S; Steiner, B; Nygren, AOH; Carrel, T; Steinmann, B; Matyas, G,期刊：European Journal of Human Genetics, 页码：1315-1321 , 文章类型： Article，,卷期：2010年18-12] Aortic dilatation/dissection (AD) can occur spontaneously or in association with genetic syndromes, such as Marfan syndrome (MFS; caused by FBN1 mutations), MFS type 2 and Loeys-Dietz syndrome (associated with TGFBR1/TGF... NordicDB: a Nordic pool and portal for genome-wide control data [作者：Leu, M; Humphreys, K; Surakka, I; Rehnberg, E; Muilu, J; Rosenstrom, P; Almgren, P; Jaaskelainen, J; Lifton, RP; Kyvik, KO; Kaprio, J; Pedersen, NL; Palotie, A; Hall, P; Gronberg, H; Groop, L; Peltonen, L; Palmgren, J; Ripatti, S,期刊：European Journal of Human Genetics, 页码：1322-1326 , 文章类型： Article，,卷期：2010年18-12] A cost-efficient way to increase power in a genetic association study is to pool controls from different sources. The genotyping effort can then be directed to large case series. The Nordic Control database, NordicDB, ha... Gene expression associated with the onset of hearing detected by differential display in rat organ of Corti [作者：Reisinger, E; Meintrup, D; Oliver, D; Fakler, B,期刊：European Journal of Human Genetics, 页码：1327-1332 , 文章类型： Article，,卷期：2010年18-12] The exquisite performance of the mammalian hearing organ results from a finely orchestrated array of cell types, and their highly specialized functions are determined by their gene expression profile. In rodents, this pr... Potential role of TCF7L2 gene variants on cardiac sympathetic/parasympathetic activity [作者：Boccardi, V; Ambrosino, I; Papa, M; Fiore, D; Rizzo, MR; Paolisso, G; Barbieri, M,期刊：European Journal of Human Genetics, 页码：1333-1338 , 文章类型： Article，,卷期：2010年18-12] Variants in transcription factor 7-like 2 (266096218TCF7L2266096218USuser266096218Gene names have been italicized per house style. Please check and confirm whether there are other instances that need to be italicized or ... FTO genotype and adiposity in children: physical activity levels influence the effect of the risk genotype in adolescent males [作者：Scott, RA; Bailey, MES; Moran, CN; Wilson, RH; Fuku, N; Tanaka, M; Tsiokanos, A; Jamurtas, AZ; Grammatikaki, E; Moschonis, G; Manios, Y; Pitsiladis, YP,期刊：European Journal of Human Genetics, 页码：1339-1343 , 文章类型： Article，,卷期：2010年18-12] Studies of the fat mass and obesity-associated (FTO) gene provide compelling evidence of genetic variation in the general population that influences fat levels and obesity risk. Studies of the interaction between genetic... FGF21 signalling pathway and metabolic traits - genetic association analysis [作者：Kaess, BM; Barnes, TA; Stark, K; Charchar, FJ; Waterworth, D; Song, K; Wang, WYS; Vollenweider, P; Waeber, G; Mooser, V; Zukowska-Szczechowska, E; Samani, NJ; Hengstenberg, C; Tomaszewski, M,期刊：European Journal of Human Genetics, 页码：1344-1348 , 文章类型： Article，,卷期：2010年18-12] Fibroblast growth factor 21 (FGF21) is a novel master regulator of metabolic profile. The biological actions of FGF21 are elicited upon its klotho beta (KLB)-facilitated binding to FGF receptor 1 (FGFR1), FGFR2 and FGFR3... Confirmation of association between multiple sclerosis and CYP27B1 [作者：Sundqvist, E; Baarnhielm, M; Alfredsson, L; Hillert, J; Olsson, T; Kockum, I,期刊：European Journal of Human Genetics, 页码：1349-1352 , 文章类型： Article，,卷期：2010年18-12] Multiple sclerosis, MS (OMIM No. 126200), is a complex inflammatory disease that is characterized by lesions in the central nervous system. Both genes and other environmental factors influence disease susceptibility. One... X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17 beta-hydroxysteroid dehydrogenase 10 deficiency [作者：Garcia-Villoria, J; Gort, L; Madrigal, I; Fons, C; Fernandez, C; Navarro-Sastre, A; Mila, M; Briones, P; Garcia-Cazorla, A; Campistol, J; Ribes, A,期刊：European Journal of Human Genetics, 页码：1353-1355 , 文章类型： Article，,卷期：2010年18-12] 17 beta-Hydroxysteroid dehydrogenase 10 (HSD10) is a mitochondrial enzyme involved in the degradation pathway of isoleucine and branched-chain fatty acids. The gene encoding HSD10, HSD17B10, has been reported as one of t...