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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19条记录   Effects of single-nucleotide polymorphisms in the human holocarboxylase synthetase gene on enzyme catalysis [作者：Esaki, S; Malkaram, SA; Zempleni, J,期刊：European Journal of Human Genetics, 页码：428-433 , 文章类型： Article，,卷期：2012年20-4] Holocarboxylase synthetase (HLCS) is a biotin protein ligase, which has a pivotal role in biotin-dependent metabolic pathways and epigenetic phenomena in humans. Knockdown of HLCS produces phenotypes such as heat suscept... Temporal differentiation across a West-European Y-chromosomal cline: genealogy as a tool in human population genetics [作者：Larmuseau, MHD; Ottoni, C; Raeymaekers, JAM; Vanderheyden, N; Larmuseau, HFM; Decorte, R,期刊：European Journal of Human Genetics, 页码：434-440 , 文章类型： Article，,卷期：2012年20-4] The pattern of population genetic variation and allele frequencies within a species are unstable and are changing over time according to different evolutionary factors. For humans, it is possible to combine detailed patr... Sephardic signature in haplogroup T mitochondrial DNA [作者：Bedford, FL,期刊：European Journal of Human Genetics, 页码：441-448 , 文章类型： Article，,卷期：2012年20-4] A rare combination of mutations within mitochondrial DNA subhaplogroup T2e is identified as affiliated with Sephardic Jews, a group that has received relatively little attention. Four investigations were pursued: Search ... A flexible likelihood framework for detecting associations with secondary phenotypes in genetic studies using selected samples: application to sequence data [作者：Liu, DJJ; Leal, SM,期刊：European Journal of Human Genetics, 页码：449-456 , 文章类型： Article，,卷期：2012年20-4] For most complex trait association studies using next-generation sequencing, in addition to the primary phenotype of interest, many clinically important secondary traits are also available, which can be analyzed to map s... Case report: type 1 diabetes in monozygotic quadruplets [作者：Stechova, K; Halbhuber, Z; Hubackova, M; Kayserova, J; Petruzelkova, L; Vcelakova, J; Kolouskova, S; Ulmannova, T; Faresjo, M; Neuwirth, A; Spisek, R; Sediva, A; Filipp, D; Sumnik, Z,期刊：European Journal of Human Genetics, 页码：457-462 , 文章类型： Article，,卷期：2012年20-4] Type 1 diabetes (T1D) is an autoimmune disease characterized by the lack of insulin due to an autoimmune destruction of pancreatic beta cells. Here, we report a unique case of a family with naturally conceived quadruplet... UGT1A1 is a major locus influencing bilirubin levels in African Americans [作者：Chen, GJ; Ramos, E; Adeyemo, A; Shriner, D; Zhou, J; Doumatey, AP; Huang, HX; Erdos, MR; Gerry, NP; Herbert, A; Bentley, AR; Xu, HC; Charles, BA; Christman, MF; Rotimi, CN,期刊：European Journal of Human Genetics, 页码：463-468 , 文章类型： Article，,卷期：2012年20-4] Total serum bilirubin is associated with several clinical outcomes, including cardiovascular disease, diabetes and drug metabolism. We conducted a genome-wide association study in 619 healthy unrelated African Americans ... A statistical method for region-based meta-analysis of genome-wide association studies in genetically diverse populations [作者：Wang, X; Liu, XY; Sim, XL; Xu, HY; Khor, CC; Ong, RTH; Tay, WT; Suo, C; Poh, WT; Ng, DPK; Liu, JJ; Aung, T; Chia, KS; Wong, TY; Tai, ES; Teo, YY,期刊：European Journal of Human Genetics, 页码：469-475 , 文章类型： Article，,卷期：2012年20-4] Genome-wide association studies (GWAS) have become the preferred experimental design in exploring the genetic etiology of complex human traits and diseases. Standard SNP-based meta-analytic approaches have been utilized ... Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration [作者：Pierson, TM; Simeonov, DR; Sincan, M; Adams, DA; Markello, T; Golas, G; Fuentes-Fajardo, K; Hansen, NF; Cherukuri, PF; Cruz, P; Mullikin, JC; Blackstone, C; Tifft, C; Boerkoel, CF; Gahl, WA,期刊：European Journal of Human Genetics, 页码：476-479 , 文章类型： Article，,卷期：2012年20-4] Fatty acid hydroxylase-associated neurodegeneration due to fatty acid 2-hydroxylase deficiency presents with a wide range of phenotypes including spastic paraplegia, leukodystrophy, and/or brain iron deposition. All prev... Antilipolytic effect of calcimimetics depends on the allelic variant of calcium-sensing receptor gene polymorphism rs1042636 (Arg990Gly) [作者：Reyes, M; Rothe, HM; Mattar, P; Shapiro, WB; Cifuentes, M,期刊：European Journal of Human Genetics, 页码：480-482 , 文章类型： Article，,卷期：2012年20-4] Calcium-sensing receptor polymorphism rs1042636 (Arg990Gly) affects the response to the calcimimetic cinacalcet, used to treat hypercalcemia in secondary hyperparathyroidism (sHPT) or parathyroid carcinoma. Carriers of t... 'Nasal' speech-hyper or hypo? [作者：Kirk, EP,期刊：European Journal of Human Genetics, 页码：367-367 , 文章类型： Letter，,卷期：2012年20-4] Nasal speech in patients with 12q15 microdeletions [作者：Vergult, S; Krgovic, D; Loeys, B; Lyonnet, S; Lieden, A; Anderlid, BM; Sharkey, F; Joss, S; Mortier, G; Menten, B,期刊：European Journal of Human Genetics, 页码：367-367 , 文章类型： Letter，,卷期：2012年20-4] Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres [作者：Van Rij, MC; De Rademaeker, M; Moutou, C; Dreesen, JCFM; De Rycke, M; Liebaers, I; Geraedts, JPM; De Die-Smulders, CEM; Viville, S,期刊：European Journal of Human Genetics, 页码：368-375 , 文章类型： Article，,卷期：2012年20-4] This study provides an overview of 13 years of experience of preimplantation genetic diagnosis (PGD) for Huntington's disease (HD) at three European PGD centres in Brussels, Maastricht and Strasbourg. Information on all ... Preimplantation genetic diagnosis in female and male carriers of reciprocal translocations: clinical outcome until delivery of 312 cycles [作者：Keymolen, K; Staessen, C; Verpoest, W; Liebaers, I; Bonduelle, M,期刊：European Journal of Human Genetics, 页码：376-380 , 文章类型： Article，,卷期：2012年20-4] Carriers of reciprocal translocations (rcp) are known to be at risk for reproductive difficulties. Preimplantation genetic diagnosis (PGD) is one of the options these carriers have to try in order to fulfil their desire ... How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum [作者：Banka, S; Veeramachaneni, R; Reardon, W; Howard, E; Bunstone, S; Ragge, N; Parker, MJ; Crow, YJ; Kerr, B; Kingston, H; Metcalfe, K; Chandler, K; Magee, A; Stewart, F; McConnell, VPM; Donnelly, DE; Berland, S; Houge, G; Morton, JE; Oley, C; Revencu, N; Park, SM; Davies, SJ; Fry, AE; Lynch, SA; Gill, H; Schweiger, S; Lam, WWK; Tolmie, J; Mohammed, SN; Hobson, E; Smith, A; Blyth, M; Bennett, C; Vasudevan, PC; Garcia-Minaur, S; Henderson, A; Goodship, J; Wright, MJ; Fisher, R; Gibbons, R; Price, SM; de Silva, DC; Temple, IK; Collins, AL; Lachlan, K; Elmslie, F; McEntagart, M; Castle, B; Clayton-Smith, J; Black, GC; Donnai, D,期刊：European Journal of Human Genetics, 页码：381-388 , 文章类型： Article，,卷期：2012年20-4] MLL2 mutations are detected in 55 to 80% of patients with Kabuki syndrome (KS). In 20 to 45% patients with KS, the genetic basis remains unknown, suggesting possible genetic heterogeneity. Here, we present the largest ye... Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus [作者：Czugala, M; Karolak, JA; Nowak, DM; Polakowski, P; Pitarque, J; Molinari, A; Rydzanicz, M; Bejjani, BA; Yue, BYJT; Szaflik, JP; Gajecka, M,期刊：European Journal of Human Genetics, 页码：389-397 , 文章类型： Article，,卷期：2012年20-4] Keratoconus (KTCN), a non-inflammatory corneal disorder characterized by stromal thinning, represents a major cause of corneal transplantations. Genetic and environmental factors have a role in the etiology of this compl... Severe intellectual disability and autistic features associated with microduplication 2q23.1 [作者：Chung, BHY; Mullegama, S; Marshall, CR; Lionel, AC; Weksberg, R; Dupuis, L; Brick, L; Li, CM; Scherer, SW; Aradhya, S; Stavropoulos, DJ; Elsea, SH; Mendoza-Londono, R,期刊：European Journal of Human Genetics, 页码：398-403 , 文章类型： Article，,卷期：2012年20-4] We report on two patients with developmental delay, hypotonia, and autistic features associated with duplications of chromosome region 2q23.1-2q23.2 detected by chromosome microarray analysis. The duplications include on...