- Methionine synthase A2756G polymorphism and cancer risk: a meta-analysis
[作者:Yu, K; Zhang, J; Zhang, JY; Dou, C; Gu, SH; Xie, Y; Mao, YM; Ji, CN,期刊:European Journal of Human Genetics, 页码:370-378 , 文章类型: Article,,卷期:2010年18-3]
- Polymorphisms in methionine synthase (MTR) gene may be involved in carcinogenesis by affecting DNA methylation. However, association studies on MTR A2756G polymorphism in cancers have reported conflicting results. Theref...
- A powerful genome-wide feasible approach to detect parent-of-origin effects in studies of quantitative traits
[作者:Belonogova, NM; Axenovich, TI; Aulchenko, YS,期刊:European Journal of Human Genetics, 页码:379-384 , 文章类型: Article,,卷期:2010年18-3]
- There is currently a lot of interest in the role of genomic imprinting in mammalian development. Many human diseases, such as cancer, obesity, diabetes and behavioral traits, may be related to imprinted genes. When searc...
- Large-scale parent-child comparison confirms a strong paternal influence on telomere length
[作者:Nordfjall, K; Svenson, U; Norrback, KF; Adolfsson, R; Roos, G,期刊:European Journal of Human Genetics, 页码:385-389 , 文章类型: Article,,卷期:2010年18-3]
- Telomere length is documented to have a hereditary component, and both paternal and X-linked inheritance have been proposed. We investigated blood cell telomere length in 962 individuals with an age range between 0 and 1...
- Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12
[作者:Nagamani, SCS; Erez, A; Shen, J; Li, CM; Roeder, E; Cox, S; Karaviti, L; Pearson, M; Kang, SHL; Sahoo, T; Lalani, SR; Stankiewicz, P; Sutton, VR; Cheung, SW,期刊:European Journal of Human Genetics, 页码:278-284 , 文章类型: Article,,卷期:2010年18-3]
- Deletions in chromosome 17q12 encompassing the HNF1 beta gene cause cystic renal disease and maturity onset diabetes of the young, and have been recently described as the first recurrent genomic deletion leading to diabe...
- Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition
[作者:Rio, M; Malan, V; Boissel, S; Toutain, A; Royer, G; Gobin, S; Morichon-Delvallez, N; Turleau, C; Bonnefont, JP; Munnich, A; Vekemans, M; Colleaux, L,期刊:European Journal of Human Genetics, 页码:285-290 , 文章类型: Article,,卷期:2010年18-3]
- X-linked mental retardation is a common disorder that accounts for 5-10% of cases of mental retardation in males. Fragile X syndrome is the most common form resulting from a loss of expression of the FMR1 gene. On the ot...
- Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11
[作者:Tzschach, A; Bisgaard, AM; Kirchhoff, M; Graul-Neumann, LM; Neitzel, H; Page, S; Ahmed, A; Muller, I; Erdogan, F; Ropers, HH; Kalscheuer, VM; Ullmann, R,期刊:European Journal of Human Genetics, 页码:291-295 , 文章类型: Article,,卷期:2010年18-3]
- Interstitial deletions of chromosome band 10q22 are rare. We report on the characterization of three overlapping de novo 10q22 deletions by high-resolution array comparative genomic hybridization in three unrelated patie...
- Comparison of participant information and informed consent forms of five European studies in genetic isolated populations
[作者:Mascalzoni, D; Janssens, ACJW; Stewart, A; Pramstaller, P; Gyllensten, U; Rudan, I; van Duijn, CM; Wilson, JF; Campbell, H; Mc Quillan, R,期刊:European Journal of Human Genetics, 页码:296-302 , 文章类型: Article,,卷期:2010年18-3]
- Family-based research in genetically isolated populations is an effective approach for identifying loci influencing variation in disease traits. In common with all studies in humans, those in genetically isolated populat...
- Understanding sickle cell carrier status identified through newborn screening: a qualitative study
[作者:Miller, FA; Paynter, M; Hayeems, RZ; Little, J; Carroll, JC; Wilson, BJ; Allanson, J; Bytautas, JP; Chakraborty, P,期刊:European Journal of Human Genetics, 页码:303-308 , 文章类型: Article,,卷期:2010年18-3]
- The expansion of newborn screening (NBS) is increasing the generation of incidental results, notably carrier results. Although carrier status is generally understood to be clinically benign, concerns persist that parents...
- European admixture on the Micronesian island of Kosrae: lessons from complete genetic information
[作者:Bonnen, PE; Lowe, JK; Altshuler, DM; Breslow, JL; Stoffel, M; Friedman, JM; Pe'er, I,期刊:European Journal of Human Genetics, 页码:309-316 , 文章类型: Article,,卷期:2010年18-3]
- The architecture of natural variation present in a contemporary population is a result of multiple population genetic forces, including population bottleneck and expansion, selection, drift, and admixture. We seek to unt...
- Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis
[作者:Micale, L; Turturo, MG; Fusco, C; Augello, B; Jurado, LAP; Izzi, C; Digilio, MC; Milani, D; Lapi, E; Zelante, L; Merla, G,期刊:European Journal of Human Genetics, 页码:317-323 , 文章类型: Article,,卷期:2010年18-3]
- Supravalvular aortic stenosis (SVAS) is a congenital narrowing of the ascending aorta, which can occur sporadically as an autosomal dominant condition or as one component of the Williams-Beuren syndrome, a complex develo...
- Functional consequences of mitochondrial tRNA(Trp) and tRNA(Arg) mutations causing combined OXPHOS defects
[作者:Smits, P; Mattijssen, S; Morava, E; van den Brand, M; van den Brandt, F; Wijburg, F; Pruijn, G; Smeitink, J; Nijtmans, L; Rodenburg, R; van den Heuvel, L,期刊:European Journal of Human Genetics, 页码:324-329 , 文章类型: Article,,卷期:2010年18-3]
- Combined oxidative phosphorylation (OXPHOS) system deficiencies are a group of mitochondrial disorders that are associated with a range of clinical phenotypes and genetic defects. They occur in approximately 30% of all O...
- Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation
[作者:Rujirabanjerd, S; Nelson, J; Tarpey, PS; Hackett, A; Edkins, S; Raymond, FL; Schwartz, CE; Turner, G; Iwase, S; Shi, Y; Futreal, PA; Stratton, MR; Gecz, J,期刊:European Journal of Human Genetics, 页码:330-335 , 文章类型: Article,,卷期:2010年18-3]
- Mental retardation (MR) is characterized by cognitive impairment with an IQ <70. Many of the major causes are genetically determined and the similar to 30% male excess suggests that mutations in genes carried on the X ch...
- Gain-of-function variant in GLUD2 glutamate dehydrogenase modifies Parkinson's disease onset
[作者:Plaitakis, A; Latsoudis, H; Kanavouras, K; Ritz, B; Bronstein, JM; Skoula, I; Mastorodemos, V; Papapetropoulos, S; Borompokas, N; Zaganas, I; Xiromerisiou, G; Hadjigeorgiou, GM; Spanaki, C,期刊:European Journal of Human Genetics, 页码:336-341 , 文章类型: Article,,卷期:2010年18-3]
- Parkinson's disease (PD), a common neurodegenerative disorder characterized by progressive loss of dopaminergic neurons and their terminations in the basal ganglia, is thought to be related to genetic and environmental f...
- Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects
[作者:Dastani, Z; Pajukanta, P; Marcil, M; Rudzicz, N; Ruel, I; Bailey, SD; Lee, JC; Lemire, M; Faith, J; Platko, J; Rioux, J; Hudson, TJ; Gaudet, D; Engert, JC; Genest, J,期刊:European Journal of Human Genetics, 页码:342-347 , 文章类型: Article,,卷期:2010年18-3]
- Low levels of high-density lipoprotein cholesterol (HDL-C) are an independent risk factor for cardiovascular disease. To identify novel genetic variants that contribute to HDL-C, we performed genome-wide scans and quanti...
|