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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15条记录   Familial aggregation of preeclampsia and intrauterine growth restriction in a genetically isolated population in The Netherlands [作者：Berends, AL; Steegers, EA; Isaacs, A; Aulchenko, YS; Liu, F; de Groot, CJ; Oostra, BA; van Duijn, CM,期刊：European Journal of Human Genetics, 页码：1437-1442 , 文章类型： Article，,卷期：2008年16-12] Preeclampsia and intrauterine growth restriction are related, pregnancy-specific disorders with a substantial genetic influence, which may have a joint genetic aetiology. We investigated familial aggregation, consanguini... Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype [作者：Bonaglia, MC; Ciccone, R; Gimelli, G; Gimelli, S; Marelli, S; Verheij, J; Giorda, R; Grasso, R; Borgatti, R; Pagone, F; Rodriguez, L; Martinez-Frias, ML; van Ravenswaaij, C; Zuffardi, O,期刊：European Journal of Human Genetics, 页码：1443-1449 , 文章类型： Article，,卷期：2008年16-12] Most patients with an interstitial deletion of 6q16 have Prader-Willi-like phenotype, featuring obesity, hypotonia, short hands and feet, and developmental delay. In all reported studies, the chromosome rearrangement was... Array-based comparative genomic hybridization of mapped BAC DNA clones to screen for chromosome 14 copy number abnormalities in meningiomas [作者：Espinosa, AB; Mackintosh, C; Maillo, A; Gutierrez, L; Sousa, P; Merino, M; Ortiz, J; de Alava, E; Orfao, A; Tabernero, MD,期刊：European Journal of Human Genetics, 页码：1450-1458 , 文章类型： Article，,卷期：2008年16-12] Chromosome 14 loss in meningiomas are associated with more aggressive tumour behaviour. To date, no studies have been reported in which the entire chromosome 14q of meningioma tumour cells has been studied by high-resolu... Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient [作者：Pasmant, E; de Saint-Trivier, A; Laurendeau, I; Dieux-Coeslier, A; Parfait, B; Vidaud, M; Vidaud, D; Bieche, I,期刊：European Journal of Human Genetics, 页码：1459-1466 , 文章类型： Article，,卷期：2008年16-12] We describe a large germline deletion removing the NF1 locus, identified by heterozygosity mapping based on microsatellite markers, in an 8-year-old French girl with a particularly severe NF1 contiguous gene syndrome. We... What process attributes of clinical genetics services could maximise patient benefits? [作者：McAllister, M; Payne, K; MacLeod, R; Nicholls, S; Donnai, D; Davies, L,期刊：European Journal of Human Genetics, 页码：1467-1476 , 文章类型： Article，,卷期：2008年16-12] There is limited evidence about what process attributes of clinical genetics services may be highly valued by patients and service providers. The aim in this qualitative grounded theory study was to explore what process ... Deciphering the genetics of hereditary non-syndromic colorectal cancer [作者：Papaemmanuil, E; Carvajal-Carmona, L; Sellick, GS; Kemp, Z; Webb, E; Spain, S; Sullivan, K; Barclay, E; Lubbe, S; Jaeger, E; Vijayakrishnan, J; Broderick, P; Gorman, M; Martin, L; Lucassen, A; Bishop, DT; Evans, DG; Maher, ER; Steinke, V; Rahner, N; Schackert, HK; Goecke, TO; Holinski-Feder, E; Propping, P; Van Wezel, T; Wijnen, J; Cazier, JB; Thomas, H; Houlston, RS; Tomlinson, I,期刊：European Journal of Human Genetics, 页码：1477-1486 , 文章类型： Article，,卷期：2008年16-12] Previously we have localized to chromosome 3q21-q24, a predisposition locus for colorectal cancer (CRC), through a genome-wide linkage screen (GWLS) of 69 families without familial adenomatous polyposis or hereditary non... Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations [作者：Tabolacci, E; Moscato, U; Zalfa, F; Bagni, C; Chiurazzi, P; Neri, G,期刊：European Journal of Human Genetics, 页码：1487-1498 , 文章类型： Article，,卷期：2008年16-12] Fragile X syndrome (FXS) is caused by the expansion of a CGG repeat in the 5'UTR of the FMR1 gene and the subsequent methylation of all CpG sites in the promoter region. We recently identified, in unrelated FXS families,... Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe [作者：Koehler, K; Brockmann, K; Krumbholz, M; Kind, B; Bonnemann, C; Gartner, J; Huebner, A,期刊：European Journal of Human Genetics, 页码：1499-1506 , 文章类型： Article，,卷期：2008年16-12] The triple A syndrome is caused by autosomal recessively inherited mutations in the AAAS gene and is characterized by achalasia, alacrima and adrenal insufficiency as well as progressive neurological impairment. We repor... Replication of the Wellcome Trust genome-wide association study of essential hypertension: the Family Blood Pressure Program [作者：Ehret, GB; Morrison, AC; O'Connor, AA; Grove, ML; Baird, L; Schwander, K; Weder, A; Cooper, RS; Rao, DC; Hunt, SC; Boerwinkle, E; Chakravarti, A,期刊：European Journal of Human Genetics, 页码：1507-1511 , 文章类型： Article，,卷期：2008年16-12] Essential hypertension is a principal cardiovascular risk factor whose origin remains unknown. Classical genetic studies have shown that blood pressure is at least partially heritable, opening a window to understanding t... Haplotypic analysis of tag SNPs of the interleukin-18 gene in relation to cardiovascular disease events: the MORGAM Project [作者：Grisoni, ML; Proust, C; Alanne, M; DeSuremain, M; Salomaa, V; Kuulasmaa, K; Cambien, F; Nicaud, V; Stegmayr, B; Virtamo, J; Shields, D; Kee, F; Tiret, L; Evans, A; Tregouet, DA,期刊：European Journal of Human Genetics, 页码：1512-1520 , 文章类型： Article，,卷期：2008年16-12] Interleukin-18 (IL-18) is a key inflammatory molecule suspected of being involved in the etiology of cardiovascular diseases (CVD). Five single nucleotide polymorphisms (SNPs) capturing the common genetic variation of th... Influence of MUC1 genetic variation on prostate cancer risk and survival [作者：Strawbridge, RJ; Nister, M; Brismar, K; Li, CD; Lindstrom, S,期刊：European Journal of Human Genetics, 页码：1521-1525 , 文章类型： Article，,卷期：2008年16-12] Gene expression profiling has identified MUC1 as being significantly overexpressed in prostate cancer with poor clinical outcome after radical surgery, but the molecular mechanisms are still unclear. In this paper, we ex... Genetic diversity patterns at the human clock gene period 2 are suggestive of population-specific positive selection [作者：Cruciani, F; Trombetta, B; Labuda, D; Modiano, D; Torroni, A; Costa, R; Scozzari, R,期刊：European Journal of Human Genetics, 页码：1526-1534 , 文章类型： Article，,卷期：2008年16-12] Period 2 (PER2) is a key component of the mammalian circadian clock machinery. In humans, genetic variation of clock genes or chronic disturbance of circadian rhythmicity has been implied in the onset of several phenotyp... Predicting the number and sizes of IBD regions among family members and evaluating the family size requirement for linkage studies [作者：Yang, WL; Wang, ZY; Wang, LS; Sham, PC; Huang, P; Lau, YL,期刊：European Journal of Human Genetics, 页码：1535-1543 , 文章类型： Article，,卷期：2008年16-12] With genotyping of high-density single nucleotide polymorphisms (SNPs) replacing that of microsatellite markers in linkage studies, it becomes possible to accurately determine the genomic regions shared identity by desce... Investigation of the fine structure of European populations with applications to disease association studies [作者：Heath, SC; Gut, IG; Brennan, P; McKay, JD; Bencko, V; Fabianova, E; Foretova, L; Georges, M; Janout, V; Kabesch, M; Krokan, HE; Elvestad, MB; Lissowska, J; Mates, D; Rudnai, P; Skorpen, F; Schreiber, S; Soria, JM; Syvanen, AC; Meneton, P; Hercberg, S; Galan, P; Szeszenia-Dabrowska, N; Zaridze, D; Genin, E; Cardon, LR; Lathrop, M,期刊：European Journal of Human Genetics, 页码：1413-1429 , 文章类型： Article，,卷期：2008年16-12] An investigation into fine-scale European population structure was carried out using high-density genetic variation on nearly 6000 individuals originating from across Europe. The individuals were collected as control sam... Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer [作者：Collin, RWJ; de Heer, AMR; Oostrik, J; Pauw, RJ; Plantinga, RF; Huygen, PL; Admiraal, R; de Brouwer, APM; Strom, TM; Cremers, CWRJ; Kremer, H,期刊：European Journal of Human Genetics, 页码：1430-1436 , 文章类型： Article，,卷期：2008年16-12] Autosomal dominant hearing loss is highly heterogeneous. Hearing impairment mainly involves the mid-frequencies (500-2000 Hz) in only a low percentage of the cases. In a Dutch family with autosomal dominant mid-frequency...