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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22条记录   Mosaics and moles [作者：Sunde, L; Niemann, I; Hansen, ES; Hindkjaer, J; Degn, B; Jensen, UB; Bolund, L,期刊：European Journal of Human Genetics, 页码：1026-1031 , 文章类型： Article，,卷期：2011年19-10] Hydatidiform mole (HM) is an abnormal human pregnancy, where the placenta presents with vesicular swelling of the chorionic villi. A fetus is either not present, or malformed and not viable. Most moles are diploid androg... Nasal speech and hypothyroidism are common hallmarks of 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：1032-1037 , 文章类型： Article，,卷期：2011年19-10] The introduction of array CGH in clinical diagnostics has led to the discovery of many new microdeletion/microduplication syndromes. Most of them are rare and often present with a variable range of clinical anomalies. In... Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene [作者：Sarkozy, A; Windpassinger, C; Hudson, J; Dougan, CF; Lecky, B; Hilton-Jones, D; Eagle, M; Charlton, R; Barresi, R; Lochmuller, H; Bushby, K; Straub, V,期刊：European Journal of Human Genetics, 页码：1038-1044 , 文章类型： Article，,卷期：2011年19-10] Mutations in the four-and-a-half LIM domain 1 (FHL1) gene, which encodes a 280-amino-acid protein containing four LIM domains and a single zinc-finger domain in the N-terminal region, have been associated with a broad cl... A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites [作者：Chong, JX; Oktay, AA; Dai, ZY; Swoboda, KJ; Prior, TW; Ober, C,期刊：European Journal of Human Genetics, 页码：1045-1051 , 文章类型： Article，,卷期：2011年19-10] Spinal muscular atrophy (SMA) is an autosomal recessive (AR) neuromuscular disease that is one of the most common lethal genetic disorders in children, with carrier frequencies as high as similar to 1 in 35 in US Whites.... Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes [作者：Thery, JC; Krieger, S; Gaildrat, P; Revillion, F; Buisine, MP; Killian, A; Duponchel, C; Rousselin, A; Vaur, D; Peyrat, JP; Berthet, P; Frebourg, T; Martins, A; Hardouin, A; Tosi, M,期刊：European Journal of Human Genetics, 页码：1052-1058 , 文章类型： Article，,卷期：2011年19-10] A large fraction of sequence variants of unknown significance (VUS) of the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 may induce splicing defects. We analyzed 53 VUSs of BRCA1 or BRCA2, detected in co... Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability [作者：Also-Rallo, E; Alias, L; Martinez-Hernandez, R; Caselles, L; Barcelo, MJ; Baiget, M; Bernal, S; Tizzano, EF,期刊：European Journal of Human Genetics, 页码：1059-1065 , 文章类型： Article，,卷期：2011年19-10] Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder caused by mutations in the SMN1 gene. The homologous copy (SMN2) is always present in SMA patients. SMN1 gene transcripts are usually full-length (FL), bu... Assessing the pathological relevance of SPINK1 promoter variants [作者：Boulling, A; Witt, H; Chandak, GR; Masson, E; Paliwal, S; Bhaskar, S; Reddy, DN; Cooper, DN; Chen, JM; Ferec, C,期刊：European Journal of Human Genetics, 页码：1066-1073 , 文章类型： Article，,卷期：2011年19-10] The SPINK1 gene, encoding the human pancreatic secretory trypsin inhibitor, is one of the major genes involved in predisposition to chronic pancreatitis (CP). In this study we have assessed the potential functional impac... A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement [作者：Bowne, SJ; Humphries, MM; Sullivan, LS; Kenna, PF; Tam, LCS; Kiang, AS; Campbell, M; Weinstock, GM; Koboldt, DC; Ding, L; Fulton, RS; Sodergren, EJ; Allman, D; Millington-Ward, S; Palfi, A; McKee, A; Blanton, SH; Slifer, S; Konidari, I; Farrar, GJ; Daiger, SP; Humphries, P,期刊：European Journal of Human Genetics, 页码：1074-1081 , 文章类型： Article，,卷期：2011年19-10] Linkage testing using Affymetrix 6.0 SNP Arrays mapped the disease locus in TCD-G, an Irish family with autosomal dominant retinitis pigmentosa (adRP), to an 8.8Mb region on 1p31. Of 50 known genes in the region, 11 cand... Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders [作者：Anney, RJL; Kenny, EM; O'Dushlaine, C; Yaspan, BL; Parkhomenka, E; Buxbaum, JD; Sutcliffe, J; Gill, M; Gallagher, L,期刊：European Journal of Human Genetics, 页码：1082-1089 , 文章类型： Article，,卷期：2011年19-10] Recent genome-wide association studies (GWAS) have implicated a range of genes from discrete biological pathways in the aetiology of autism. However, despite the strong influence of genetic factors, association studies h... Finding disease genes: a fast and flexible approach for analyzing high-throughput data [作者：Stewart, WCL; Drill, EN; Greenberg, DA,期刊：European Journal of Human Genetics, 页码：1090-1094 , 文章类型： Article，,卷期：2011年19-10] Linkage disequilibrium (LD) is the non-random distribution of alleles across the genome, and it can create serious problems for modern linkage studies. In particular, computational feasibility is often obtained at the ex... GWAS Integrator: a bioinformatics tool to explore human genetic associations reported in published genome-wide association studies [作者：Yu, W; Yesupriya, A; Wulf, A; Hindorff, LA; Dowling, N; Khoury, MJ; Gwinn, M,期刊：European Journal of Human Genetics, 页码：1095-1099 , 文章类型： Article，,卷期：2011年19-10] Genome-wide association studies (GWAS) have successfully identified numerous genetic loci that are associated with phenotypic traits and diseases. GWAS Integrator is a bioinformatics tool that integrates information on t... Alterations in KLRB1 gene expression and a Scandinavian multiple sclerosis association study of the KLRB1 SNP rs4763655 [作者：Sondergaard, HB; Sellebjerg, F; Hillert, J; Olsson, T; Kockum, I; Linden, M; Mero, IL; Myhr, KM; Celius, EG; Harbo, HF; Christensen, JR; Bornsen, L; Sorensen, PS; Oturai, AB,期刊：European Journal of Human Genetics, 页码：1100-1103 , 文章类型： Article，,卷期：2011年19-10] Multiple sclerosis (MS) is a complex autoimmune disease affecting genetically susceptible individuals. A genome-wide association study performed by the International MS Genetics Consortium identified several putative sus... Gene and genetic diagnostic method patent claims: a comparison under current European and US patent law [作者：Huys, I; Van Overwalle, G; Matthijs, G,期刊：European Journal of Human Genetics, 页码：1104-1107 , 文章类型： Article，,卷期：2011年19-10] The paper focuses on the fundamental debate that is going on in Europe and the United States about whether genes and genetic diagnostic methods are to be regarded as inventions or subject matter eligible for patent prote... A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement (vol 19, pg 1074, 2011) [作者：Bowne, SJ; Humphries, MM; Sullivan, LS; Kenna, PF; Tam, LCS; Kiang, AS; Campbell, M; Weinstock, GM; Koboldt, DC; Ding, L; Fulton, RS; Sodergren, EJ; Allman, D; Millington-Ward, S; Palfi, A; McKee, A; Blanton, SH; Slifer, S; Konidari, I; Farrar, GJ; Daiger, SP; Humphries, P,期刊：European Journal of Human Genetics, 页码：1109-1109 , 文章类型： Correction，,卷期：2011年19-10] Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia (vol 19, pg 458, 2010) [作者：Ferreira, MAR; McRae, AF; Medland, SE; Nyholt, DR; Gordon, SD; Wright, MJ; Henders, AK; Madden, PA; Visscher, PM; Wray, NR; Heath, AC; Montgomery, GW; Duffy, DL; Martin, NG,期刊：European Journal of Human Genetics, 页码：1109-1109 , 文章类型： Correction，,卷期：2011年19-10] MECP2 duplications in six patients with complex sex chromosome rearrangements (vol 19, pg 409, 2010) [作者：Breman, AM; Ramocki, MB; Kang, SHL; Williams, M; Freedenberg, D; Patel, A; Bader, PI; Cheung, SW,期刊：European Journal of Human Genetics, 页码：1110-1110 , 文章类型： Correction，,卷期：2011年19-10]