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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28条记录   Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation [作者：Viart, V; Des Georges, M; Claustres, M; Taulan, M,期刊：European Journal of Human Genetics, 页码：180-184 , 文章类型： Article，,卷期：2012年20-2] In monogenic diseases, the presence of several sequence variations in the same allele may complicate our understanding of genotype-phenotype relationships. We described new alterations identified in a cystic fibrosis (CF... Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47 [作者：Balog, J; Miller, D; Sanchez-Curtailles, E; Carbo-Marques, J; Block, G; Potman, M; de Knijff, P; Lemmers, RJLF; Tapscott, SJ; van der Maarel, SM,期刊：European Journal of Human Genetics, 页码：185-191 , 文章类型： Article，,卷期：2012年20-2] Macrosatellite repeats (MSRs) present an extreme example of copy number variation, yet their epigenetic regulation in normal and malignant cells is largely understudied. The CT47 cancer/testis antigen located on human Xq... Association of TMEM18 variants with BMI and waist circumference in children and correlation of mRNA expression in the PFC with body weight in rats [作者：Rask-Andersen, M; Jacobsson, JA; Moschonis, G; Chavan, RA; Sikder, MA; Allzen, E; Alsio, J; Chrousos, GP; Manios, Y; Fredriksson, R; Schioth, HB,期刊：European Journal of Human Genetics, 页码：192-197 , 文章类型： Article，,卷期：2012年20-2] Genome-wide association studies have shown a strong association of single-nucleotide polymorphisms (SNPs) in the near vicinity of the TMEM18 gene. The effects of the TMEM18-associated variants are more readily observed i... Genome-wide homozygosity and multiple sclerosis in Orkney and Shetland Islanders [作者：McWhirter, RE; McQuillan, R; Visser, E; Counsell, C; Wilson, JF,期刊：European Journal of Human Genetics, 页码：198-202 , 文章类型： Article，,卷期：2012年20-2] There is strong evidence for both genetic and environmental risk factors comprising the aetiology of multiple sclerosis (MS). While much progress has been made in recent years in identifying common genetic variants using... People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control population [作者：Winney, B; Boumertit, A; Day, T; Davison, D; Echeta, C; Evseeva, I; Hutnik, K; Leslie, S; Nicodemus, K; Royrvik, EC; Tonks, S; Yang, XF; Cheshire, J; Longley, P; Mateos, P; Groom, A; Relton, C; Bishop, DT; Black, K; Northwood, E; Parkinson, L; Frayling, TM; Steele, A; Sampson, JR; King, T; Dixon, R; Middleton, D; Jennings, B; Bowden, R; Donnelly, P; Bodmer, W,期刊：European Journal of Human Genetics, 页码：203-210 , 文章类型： Article，,卷期：2012年20-2] There is a great deal of interest in a fine-scale population structure in the UK, both as a signature of historical immigration events and because of the effect population structure may have on disease association studie... Surname and Y chromosome in Southern Europe: a case study with Colom/Colombo [作者：Martinez-Gonzalez, LJ; Martinez-Espin, E; Alvarez, JC; Albardaner, F; Rickards, O; Martinez-Labarga, C; Calafell, F; Lorente, JA,期刊：European Journal of Human Genetics, 页码：211-216 , 文章类型： Article，,卷期：2012年20-2] According to most historians, Christopher Columbus was born in Genoa, Italy. However, based on some key facts in the discoverer's biography, as well as in the linguistic analysis of his texts, some historians and linguis... On the statistical properties of family-based association tests in datasets containing both pedigrees and unrelated case-control samples [作者：Hiekkalinna, T; Goring, HHH; Lambert, B; Weiss, KM; Norrgrann, P; Schaffer, AA; Terwilliger, JD,期刊：European Journal of Human Genetics, 页码：217-223 , 文章类型： Article，,卷期：2012年20-2] A common approach to genetic mapping of loci for complex diseases is to perform a genome-wide association study (GWAS) by analyzing a vast number of SNP markers in cohorts of unrelated cases and controls. A direct motiva... Imaging genetics of FOXP2 in dyslexia [作者：Wilcke, A; Ligges, C; Burkhardt, J; Alexander, M; Wolf, C; Quente, E; Ahnert, P; Hoffmann, P; Becker, A; Muller-Myhsok, B; Cichon, S; Boltze, J; Kirsten, H,期刊：European Journal of Human Genetics, 页码：224-229 , 文章类型： Article，,卷期：2012年20-2] Dyslexia is a developmental disorder characterised by extensive difficulties in the acquisition of reading or spelling. Genetic influence is estimated at 50-70%. However, the link between genetic variants and phenotypic ... Involvement of surfactant protein D in emphysema revealed by genetic association study [作者：Ishii, T; Hagiwara, K; Kamio, K; Ikeda, S; Arai, T; Mieno, MN; Kumasaka, T; Muramatsu, M; Sawabe, M; Gemma, A; Kida, K,期刊：European Journal of Human Genetics, 页码：230-235 , 文章类型： Article，,卷期：2012年20-2] Surfactant protein D (SFTPD) induces emphysema in knockout mice, but the association of SFTPD with chronic obstructive pulmonary disease (COPD) and emphysema in humans is unclear. Therefore, we aimed to determine the ass... Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis [作者：van Lier, MGF; Korsse, SE; Mathus-Vliegen, EMH; Kuipers, EJ; van den Ouweland, AMW; Vanheusden, K; van Leerdam, ME; Wagner, A,期刊：European Journal of Human Genetics, 页码：236-239 , 文章类型： Article，,卷期：2012年20-2] Peutz-Jeghers syndrome (PJS) is a hereditary disorder caused by LKB1 gene mutations, and is associated with considerable morbidity and decreased life expectancy. This study was conducted to assess the attitude of PJS pat... Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1 [作者：Poole, RL; Leith, DJ; Docherty, LE; Shmela, ME; Gicquel, C; Splitt, M; Temple, K; Mackay, DJG,期刊：European Journal of Human Genetics, 页码：240-243 , 文章类型： Article，,卷期：2012年20-2] The imprinted expression of the IGF2 and H19 genes is controlled by the imprinting control region 1 (ICR1) located at chromosome 11p15.5. DNA methylation defects involving ICR1 result in two growth disorders with opposit... Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development (vol 20, pg 249, 2012) [作者：Bhoj, EJ; Ramos, P; Baker, LA; Garg, V; Cost, N; Nordenskjold, A; Elder, FF; Bleyl, SB; Bowles, NE; Arrington, CB; Delhomme, B; Vanhoutteghem, A; Djian, P; Zinn, AR,期刊：European Journal of Human Genetics, 页码：249-249 , 文章类型： Correction，,卷期：2012年20-2]