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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   Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches [作者：Koolen, DA; Sistermans, EA; Nilessen, W; Knight, SJL; Regan, R; Liu, YT; Kooy, RF; Rooms, L; Romano, C; Fichera, M; Schinzel, A; Baumer, A; Anderlid, BM; Schoumans, J; van Kessel, AG; Nordenskjold, M; de Vries, BB,期刊：European Journal of Human Genetics, 页码：395-400 , 文章类型： Article，,卷期：2008年16-3] Genome-wide analysis of DNA copy-number changes using microarray-based technologies has enabled the detection of de novo cryptic chromosome imbalances in approximately 10% of individuals with mental retardation. So far, ... Process and outcome in communication of genetic information within families: a systematic review (vol 15, pg 999, 2007) [作者：Gaff, CL; Clarke, AJ; Atkinson, P,期刊：European Journal of Human Genetics, 页码：402-402 , 文章类型： Correction，,卷期：2008年16-3] Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al [作者：Friez, MJ; Wilson, JAP,期刊：European Journal of Human Genetics, 页码：277-278 , 文章类型： Letter，,卷期：2008年16-3] Genome-wide association of major depression: description of samples for the GAIN Major Depressive Disorder Study: NTR and NESDA biobank projects [作者：Boomsma, DI; Willemsen, G; Sullivan, PF; Heutink, P; Meijer, P; Sondervan, D; Kluft, C; Smit, G; Nolen, WA; Zitman, FG; Smit, JH; Hoogendijk, WJ; van Dyck, R; De Geus, EJC; Penninx, BWJH,期刊：European Journal of Human Genetics, 页码：335-342 , 文章类型： Article，,卷期：2008年16-3] Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2 [作者：Rezaie, T; Ghoroghchian, R; Bell, R; Brice, G; Hasan, A; Burnand, K; Vernon, S; Mansour, S; Mortimer, P; Jeffery, S; Child, A; Sarfarazi, M,期刊：European Journal of Human Genetics, 页码：300-304 , 文章类型： Article，,卷期：2008年16-3] Primary lymphoedema is a genetic disorder with numerous phenotypic subgroups. The most common form is the non-syndromic Meige disease, which is primarily of pubertal or later onset, with oedema clinically indistinguishab... NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia? [作者：Grisart, B; Rack, K; Vidrequin, S; Hilbert, P; Deltenre, P; Verellen-Dumoulin, C; Destree, A,期刊：European Journal of Human Genetics, 页码：305-311 , 文章类型： Article，,卷期：2008年16-3] NF1 microdeletion syndrome is a common dominant genomic disorder responsible for around 5% of type I neurofibromatosis cases. The majority of cases are caused by mutations arising within the NF1 gene. NF1 microdeletion c... Polymorphisms in the cardiac sodium channel promoter displaying variant in vitro expression activity [作者：Yang, P; Koopmann, TT; Pfeufer, A; Jalilzadeh, S; Schulze-Bahr, E; Kaab, S; Wilde, AA; Roden, DM; Bezzina, CR,期刊：European Journal of Human Genetics, 页码：350-357 , 文章类型： Article，,卷期：2008年16-3] Variable transcription of the cardiac sodium channel gene is a candidate mechanism determining arrhythmia susceptibility. We have previously cloned and characterized the core promoter and flanking region of SCN5A, encodi... Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3 [作者：Kuhl, A; Melberg, A; Meinl, E; Nurnberg, G; Nurnberg, P; Kehrer-Sawatzki, H; Jenne, DE,期刊：European Journal of Human Genetics, 页码：367-373 , 文章类型： Article，,卷期：2008年16-3] Several years ago, autosomal dominant myofibrillar myopathy (MFM) in combination with arrhythmogenic right ventricular cardiomyopathy (ARVC7) was tentatively mapped to a 10.6-Mbp (million base pairs) region on chromosome... Y-chromosome diversity characterizes the Gulf of Oman [作者：Cadenas, AM; Zhivotovsky, LA; Cavalli-Sforza, LL; Underhill, PA; Herrera, RJ,期刊：European Journal of Human Genetics, 页码：374-386 , 文章类型： Article，,卷期：2008年16-3] Arabia has served as a strategic crossroads for human disseminations, providing a natural connection between the distant populations of China and India in the east to the western civilizations along the Mediterranean. To... Engagement with genetic discrimination: concerns and experiences in the context of Huntington disease [作者：Bombard, Y; Penziner, E; Suchowersky, O; Guttman, M; Paulsen, JS; Bottorff, JL; Hayden, MR,期刊：European Journal of Human Genetics, 页码：279-289 , 文章类型： Article，,卷期：2008年16-3] It has been over 20 years since the inception of predictive testing for Huntington disease (HD), yet the social implications of knowing one's genetic risk for HD have not been fully explored. Genetic discrimination (GD) ... A 3.2Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia [作者：Gilling, M; Lauritsen, MB; Moller, M; Henriksen, KF; Vicente, A; Oliveira, G; Cintin, C; Eiberg, H; Andersen, PS; Mors, O; Rosenberg, T; Brondum-Nielsen, K; Cotterill, RMJ; Lundsteen, C; Ropers, HH; Ullmann, R; Bache, I; Tumer, Z; Tommerup, N,期刊：European Journal of Human Genetics, 页码：312-319 , 文章类型： Article，,卷期：2008年16-3] Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with unknown aetiology. Even though ASDs are suggested to be among the most heritable complex disorders, only a few reproducible mutations leading t... Deletion of 5 ' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome [作者：Laugel, V; Dalloz, C; Stary, A; Cormier-Daire, V; Desguerre, I; Renouil, M; Fourmaintraux, A; Velez-Cruz, R; Egly, JM; Sarasin, A; Dollfus, H,期刊：European Journal of Human Genetics, 页码：320-327 , 文章类型： Article，,卷期：2008年16-3] Cockayne syndrome is an autosomal recessive neurodegenerative disorder characterized by a specific defect in the repair of UV-induced DNA lesions. Most cases of Cockayne syndrome are caused by mutations in the CSB gene b... The I105V polymorphism in glutathione S-transferase P1, parental smoking and the risk for nonsyndromic cleft lip with or without cleft palate [作者：Krapels, IPC; Raijmakers-Eichhorn, J; Peters, WHM; Roelofs, HMJ; Ras, F; Steegers-Theunissen, GPM,期刊：European Journal of Human Genetics, 页码：358-366 , 文章类型： Article，,卷期：2008年16-3] Genetic variations in the detoxification enzyme glutathione S-transferase P1 (GSTP1) may modify the teratogenicity of lifestyles, such as smoking. We investigated the role of the I105V polymorphism in GSTP1, parental per... Genome-wide association studies of quantitative traits with related individuals: little (power) lost but much to be gained [作者：Visscher, PM; Andrew, T; Nyholt, DR,期刊：European Journal of Human Genetics, 页码：387-390 , 文章类型： Article，,卷期：2008年16-3] For complex disease genetics research in human populations, remarkable progress has been made in recent times with the publication of a number of genome-wide association scans (GWAS) and subsequent statistical replicatio... The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes [作者：Roth, SM; Walsh, S; Liu, D; Metter, EJ; Ferrucci, L; Hurley, BF,期刊：European Journal of Human Genetics, 页码：391-394 , 文章类型： Article，,卷期：2008年16-3] Previous reports have shown a lower proportion of the ACTN3 X/X genotype (R577X nonsense polymorphism) in sprint-related athletes compared to the general population, possibly attributed to impairment of muscle function r... Provision and quality assurance of preimplantation genetic diagnosis in Europe [作者：Corveleyn, A; Morris, MA; Dequeker, E; Sermon, K; Davies, JL; Antinolo, G; Schmutzler, A; Vanecek, J; Nagels, N; Zika, E; Palau, F; Ibarreta, D,期刊：European Journal of Human Genetics, 页码：290-299 , 文章类型： Article，,卷期：2008年16-3] Preimplantation genetic diagnosis (PGD) is now well established and provided in many European countries. However, regulations, professional standards and accreditation requirements can differ notably. Furthermore, no com...