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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17条记录   GWAS: heritability missing in action? [作者：Clarke, AJ; Cooper, DN,期刊：European Journal of Human Genetics, 页码：859-861 , 文章类型： Letter，,卷期：2010年18-8] Usefulness of factor V Leiden mutation testing in clinical practice [作者：Blinkenberg, EO; Kristoffersen, AH; Sandberg, S; Steen, VM; Houge, G,期刊：European Journal of Human Genetics, 页码：862-866 , 文章类型： Article，,卷期：2010年18-8] We have investigated the clinical usefulness of the activated protein C resistance (APCR)/factor V Leiden mutation (FVL) test by sending out questionnaires to all Norwegian physicians who ordered these tests from our pub... What is a meaningful result? Disclosing the results of genomic research in autism to research participants [作者：Miller, FA; Hayeems, RZ; Bytautas, JP,期刊：European Journal of Human Genetics, 页码：867-871 , 文章类型： Article，,卷期：2010年18-8] Developments in genomics research have been accompanied by a controversial ethical injunction: that researchers disclose individually relevant research results to research participants. With the explosion of genomic rese... Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients [作者：Hoornaert, KP; Vereecke, I; Dewinter, C; Rosenberg, T; Beemer, FA; Leroy, JG; Bendix, L; Bjorck, E; Bonduelle, M; Boute, O; Cormier-Daire, V; De Die-Smulders, C; Dieux-Coeslier, A; Dollfus, H; Elting, M; Green, A; Guerci, VI; Hennekam, RCM; Hilhorts-Hofstee, Y; Holder, M; Hoyng, C; Jones, KJ; Josifova, D; Kaitila, I; Kjaergaard, S; Kroes, YH; Lagerstedt, K; Lees, M; LeMerrer, M; Magnani, C; Marcelis, C; Martorell, L; Mathieu, M; McEntagart, M; Mendicino, A; Morton, J; Orazio, G; Paquis, V; Reish, O; Simola, KOJ; Smithson, SF; Temple, KI; Van Aken, E; Van Bever, Y; van den Ende, J; Van Hagen, JM; Zelante, L; Zordania, R; De Paepe, A; Leroy, BP; De Buyzere, M; Coucke, PJ; Mortier, GR,期刊：European Journal of Human Genetics, 页码：872-880 , 文章类型： Article，,卷期：2010年18-8] Stickler syndrome is an autosomal dominant connective tissue disorder caused by mutations in different collagen genes. The aim of our study was to define more precisely the phenotype and genotype of Stickler syndrome typ... Recurrent 70.8Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism [作者：Tosca, L; Brisset, S; Petit, FM; Lecerf, L; Rousseau, G; Bas, C; Laroudie, M; Maurin, ML; Tapia, S; Picone, O; Prevot, S; Goossens, M; Labrune, P; Tachdjian, G,期刊：European Journal of Human Genetics, 页码：882-888 , 文章类型： Article，,卷期：2010年18-8] A mosaicism is defined by the presence of two or more populations of cells with different genotypes in one individual. Chromosomal germinal mosaicism occurs in germ cells before the onset of meiosis. Previously, few stud... Therapeutic exon skipping for dysferlinopathies? [作者：Aartsma-Rus, A; Singh, KHK; Fokkema, IFAC; Ginjaar, IB; van Ommen, GJ; den Dunnen, JT; van der Maarel, SM,期刊：European Journal of Human Genetics, 页码：889-894 , 文章类型： Article，,卷期：2010年18-8] Antisense-mediated exon skipping is a promising therapeutic approach for Duchenne muscular dystrophy (DMD) currently tested in clinical trials. The aim is to reframe dystrophin transcripts using antisense oligonucleotide... Altered TGF beta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency [作者：Renard, M; Holm, T; Veith, R; Callewaert, BL; Ades, LC; Baspinar, O; Pickart, A; Dasouki, M; Hoyer, J; Rauch, A; Trapane, P; Earing, MG; Coucke, PJ; Sakai, LY; Dietz, HC; De Paepe, AM; Loeys, BL,期刊：European Journal of Human Genetics, 页码：895-901 , 文章类型： Article，,卷期：2010年18-8] Fibulin-4 is a member of the fibulin family, a group of extracellular matrix proteins prominently expressed in medial layers of large veins and arteries. Involvement of the FBLN4 gene in cardiovascular pathology was show... A sequence variant on 17q21 is associated with age at onset and severity of asthma [作者：Halapi, E; Gudbjartsson, DF; Jonsdottir, GM; Bjornsdottir, US; Thorleifsson, G; Helgadottir, H; Williams, C; Koppelman, GH; Heinzmann, A; Boezen, HM; Jonasdottir, A; Blondal, T; Gudjonsson, SA; Jonasdottir, A; Thorlacius, T; Henry, AP; Altmueller, J; Krueger, M; Shin, HD; Uh, ST; Cheong, HS; Jonsdottir, B; Ludviksson, BR; Ludviksdottir, D; Gislason, D; Park, CS; Deichmann, K; Thompson, PJ; Wjst, M; Hall, IP; Postma, DS; Gislason, T; Kong, A; Jonsdottir, I; Thorsteinsdottir, U; Stefansson, K,期刊：European Journal of Human Genetics, 页码：902-908 , 文章类型： Article，,卷期：2010年18-8] A sequence variant (rs7216389-T) near the ORMDL3 gene on chromosome 17q21 was recently found to be associated with childhood asthma. We sought to evaluate the effect of rs7216389-T on asthma subphenotypes and its correla... Risk of breast and prostate cancer is not associated with increased homozygosity in outbred populations [作者：Enciso-Mora, V; Hosking, FJ; Houlston, RS,期刊：European Journal of Human Genetics, 页码：909-914 , 文章类型： Article，,卷期：2010年18-8] Regions of restricted genetic heterogeneity due to identity by descent (autozygosity) are known to confer susceptibility to a number of diseases. Regions of germline homozygosity (ROHs) of 1-2 Mb, the result of autozygos... Linking the sub-Saharan and West Eurasian gene pools: maternal and paternal heritage of the Tuareg nomads from the African Sahel [作者：Pereira, L; Cerny, V; Cerezo, M; Silva, NM; Hajek, M; Vasikova, A; Kujanova, M; Brdicka, R; Salas, A,期刊：European Journal of Human Genetics, 页码：915-923 , 文章类型： Article，,卷期：2010年18-8] The Tuareg presently live in the Sahara and the Sahel. Their ancestors are commonly believed to be the Garamantes of the Libyan Fezzan, ever since it was suggested by authors of antiquity. Biological evidence, based on c... Linkage disequilibrium and age of HLA region SNPs in relation to classic HLA gene alleles within Europe [作者：Evseeva, I; Nicodemus, KK; Bonilla, C; Tonks, S; Bodmer, WF,期刊：European Journal of Human Genetics, 页码：924-932 , 文章类型： Article，,卷期：2010年18-8] The HLA region on chromosome 6 is gene- rich and under selective pressure because of the high proportion of immunity-related genes. Linkage disequilibrium (LD) patterns and allele frequencies in this region are highly di... A pure likelihood approach to the analysis of genetic association data: an alternative to Bayesian and frequentist analysis [作者：Strug, LJ; Hodge, SE; Chiang, T; Pal, DK; Corey, PN; Rohde, C,期刊：European Journal of Human Genetics, 页码：933-941 , 文章类型： Article，,卷期：2010年18-8] Investigators performing genetic association studies grapple with how to measure strength of association evidence, choose sample size, and adjust for multiple testing. We apply the evidential paradigm (EP) to genetic ass... A simple Bayesian mixture model with a hybrid procedure for genome-wide association studies [作者：Wei, YC; Wen, SH; Chen, PC; Wang, CH; Hsiao, CK,期刊：European Journal of Human Genetics, 页码：942-947 , 文章类型： Article，,卷期：2010年18-8] Genome-wide association studies often face the undesirable result of either failing to detect any influential markers at all because of a stringent level for testing error corrections or encountering difficulty in quanti... TTR familial amyloid polyneuropathy: does a mitochondrial polymorphism entirely explain the parent-of-origin difference in penetrance? [作者：Bonaiti, B; Olsson, M; Hellman, U; Suhr, O; Bonaiti-Pellie, C; Plante-Bordeneuve, V,期刊：European Journal of Human Genetics, 页码：948-952 , 文章类型： Article，,卷期：2010年18-8] The Val30Met transthyretin familial amyloid polyneuropathy (TTR-V30M-FAP) is the most frequent familial amyloidosis, with autosomal dominant transmission. This severe disease shows important differences in age of onset a... A genome-wide linkage scan reveals CD53 as an important regulator of innate TNF-alpha levels [作者：Bos, SD; Lakenberg, N; van der Breggen, R; Houwing-Duistermaat, JJ; Kloppenburg, M; de Craen, AJM; Beekman, M; Meulenbelt, I; Slagboom, PE,期刊：European Journal of Human Genetics, 页码：953-959 , 文章类型： Article，,卷期：2010年18-8] Cytokines are major immune system regulators. Previously, innate cytokine profiles determined by lipopolysaccharide stimulation were shown to be highly heritable. To identify regulating genes in innate immunity, we analy... Detection of susceptibility genes as modifiers due to subgroup differences in complex disease [作者：Bergen, SE; Maher, BS; Fanous, AH; Kendler, KS,期刊：European Journal of Human Genetics, 页码：960-964 , 文章类型： Article，,卷期：2010年18-8] Complex diseases invariably involve multiple genes and often exhibit variable symptom profiles. The extent to which disease symptoms, course, and severity differ between affected individuals may result from underlying ge...