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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18条记录   Chadic languages and Y haplogroups Reply [作者：Cruciani, F; Trombetta, B; Sellitto, D; Massaia, A; Destro-Bisol, G; Watson, E; Colomb, EB; Dugoujon, JM; Moral, P; Scozzari, R,期刊：European Journal of Human Genetics, 页码：1186-1187 , 文章类型： Letter，,卷期：2010年18-11] Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias [作者：Sequeiros, J; Seneca, S; Martindale, J,期刊：European Journal of Human Genetics, 页码：1188-1195 , 文章类型： Article，,卷期：2010年18-11] Many laboratories worldwide are offering molecular genetic testing for spinocerebellar ataxias (SCAs). This is essential for differential diagnosis and adequate genetic counselling. The European Molecular Genetics Qualit... Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome [作者：Duker, AL; Ballif, BC; Bawle, EV; Person, RE; Mahadevan, S; Alliman, S; Thompson, R; Traylor, R; Bejjani, BA; Shaffer, LG; Rosenfeld, JA; Lamb, AN; Sahoo, T,期刊：European Journal of Human Genetics, 页码：1196-1201 , 文章类型： Article，,卷期：2010年18-11] Prader-Willi syndrome (PWS) is a neurobehavioral disorder manifested by infantile hypotonia and feeding difficulties in infancy, followed by morbid obesity secondary to hyperphagia. It is caused by deficiency of paternal... The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of A beta in different brain regions [作者：Keller, L; Welander, H; Chiang, HH; Tjernberg, LO; Nennesmo, I; Wallin, AK; Graff, C,期刊：European Journal of Human Genetics, 页码：1202-1208 , 文章类型： Article，,卷期：2010年18-11] Early-onset dominantly inherited forms of Alzheimer's disease (AD) are rare, but studies of such cases have revealed important information about the disease mechanisms. Importantly, mutations in amyloid precursor protein... Co-expression of FBN1 with mesenchyme-specific genes in mouse cell lines: implications for phenotypic variability in Marfan syndrome [作者：Summers, KM; Raza, S; van Nimwegen, E; Freeman, TC; Hume, DA,期刊：European Journal of Human Genetics, 页码：1209-1215 , 文章类型： Article，,卷期：2010年18-11] Mutations in the human FBN1 gene cause Marfan syndrome, a complex disease affecting connective tissues but with a highly variable phenotype. To identify genes that might participate in epistatic interactions with FBN1, a... Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency [作者：Carr, CW; Moreno-De-Luca, D; Parker, C; Zimmerman, HH; Ledbetter, N; Martin, CL; Dobyns, WB; Abdul-Rahman, OA,期刊：European Journal of Human Genetics, 页码：1216-1220 , 文章类型： Article，,卷期：2010年18-11] Human FOXP2 deficiency has been identified as a cause of hereditary developmental verbal dyspraxia. Another member of the same gene family, FOXP1, has expression patterns that overlap with FOXP2 in some areas of the brai... Dengue hemorrhagic fever is associated with polymorphisms in JAK1 [作者：Silva, LK; Blanton, RE; Parrado, AR; Melo, PS; Morato, VG; Reis, EAG; Dias, JP; Castro, JM; Vasconcelos, PFC; Goddard, KAB; Barreto, ML; Reis, MG; Teixeira, MG,期刊：European Journal of Human Genetics, 页码：1221-1227 , 文章类型： Article，,卷期：2010年18-11] To identify genes associated with the clinical presentation of dengue, 50 cases of probable or possible dengue hemorrhagic fever (DHF), 236 dengue fever (DF), and 236 asymptomatic infections were genotyped for 593 single... Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation [作者：Low, D; Chen, KS,期刊：European Journal of Human Genetics, 页码：1228-1235 , 文章类型： Article，,卷期：2010年18-11] Angelman syndrome (AS) is a human neurological disorder caused by lack of maternal UBE3A expression in the brain. UBE3A is known to function as both an ubiquitin-protein ligase (E3) and a coactivator for steroid receptor... A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1 [作者：Marques-Pinheiro, A; Marduel, M; Rabes, JP; Devillers, M; Villeger, L; Allard, D; Weissenbach, J; Guerin, M; Zair, Y; Erlich, D; Junien, C; Munnich, A; Krempf, M; Abifadel, M; Jais, JP; Boileau, C; Varret, M,期刊：European Journal of Human Genetics, 页码：1236-1242 , 文章类型： Article，,卷期：2010年18-11] Autosomal dominant hypercholesterolemia (ADH) is characterized by isolated increase in plasmatic low-density lipoprotein (LDL) cholesterol levels associated with high risk of premature cardiovascular disease. Mutations i... Genome-wide scan identifies a quantitative trait locus at 4p15.3 for serum urate [作者：Cummings, N; Dyer, TD; Kotea, N; Kowlessur, S; Chitson, P; Zimmet, P; Blangero, J; Jowett, JBM,期刊：European Journal of Human Genetics, 页码：1243-1247 , 文章类型： Article，,卷期：2010年18-11] Elevated serum urate levels lead to gout and are associated with hypertension, metabolic syndrome, type 2 diabetes and cardiovascular diseases. The purpose of this study was to identify evidence for genetic linkage with ... Population structure and genome-wide patterns of variation in Ireland and Britain [作者：O'Dushlaine, CT; Morris, D; Moskvina, V; Gill, M; Corvin, A; Wilson, JF; Cavalleri, GL,期刊：European Journal of Human Genetics, 页码：1248-1254 , 文章类型： Article，,卷期：2010年18-11] Located off the northwestern coast of the European mainland, Britain and Ireland were among the last regions of Europe to be colonized by modern humans after the last glacial maximum. Further, the geographical location o... A single nucleotide polymorphism in APOA5 determines triglyceride levels in Hong Kong and Guangzhou Chinese [作者：Jiang, CQ; Liu, B; Cheung, BMY; Lam, TH; Lin, JM; Jin, YL; Yue, XJ; Ong, KL; Tam, S; Wong, KS; Tomlinson, B; Lam, KSL; Thomas, GN,期刊：European Journal of Human Genetics, 页码：1255-1260 , 文章类型： Article，,卷期：2010年18-11] Single nucleotide polymorphisms (SNPs) in the apolipoprotein A5 (APOA5) gene have been associated with hypertriglyceridaemia. We investigated which SNPs in the APOA5 gene were associated with triglyceride levels in two i... Hypothetical and factual willingness to participate in biobank research [作者：Johnsson, L; Helgesson, G; Rafnar, T; Halldorsdottir, I; Chia, KS; Eriksson, S; Hansson, MG,期刊：European Journal of Human Genetics, 页码：1261-1264 , 文章类型： Article，,卷期：2010年18-11] In the debate on biobank regulation, arguments often draw upon findings in surveys on public attitudes. However, surveys on willingness to participate in research may not always predict actual participation rates. We com... 5q11.2 deletion in a patient with tracheal agenesis [作者：de Jong, EM; Douben, H; Eussen, BH; Felix, JF; Wessels, MW; Poddighe, PJ; Nikkels, PGJ; de Krijger, RR; Tibboel, D; de Klein, A,期刊：European Journal of Human Genetics, 页码：1265-1268 , 文章类型： Article，,卷期：2010年18-11] Tracheal agenesis (TA) is a rare congenital anomaly of the respiratory tract. Many patients have associated anomalies, suggesting a syndromal phenotype. In a cohort of 12 patients, we aimed to detect copy number variatio... Genes predict village of origin in rural Europe [作者：O'Dushlaine, C; McQuillan, R; Weale, ME; Crouch, DJM; Johansson, A; Aulchenko, Y; Franklin, CS; Polasek, O; Fuchsberger, C; Corvin, A; Hicks, AA; Vitart, V; Hayward, C; Wild, SH; Meitinger, T; van Duijn, CM; Gyllensten, U; Wright, AF; Campbell, H; Pramstaller, PP; Rudan, I; Wilson, JF,期刊：European Journal of Human Genetics, 页码：1269-1270 , 文章类型： Article，,卷期：2010年18-11] The genetic structure of human populations is important in population genetics, forensics and medicine. Using genome-wide scans and individuals with all four grandparents born in the same settlement, we here demonstrate ... EMQN Best Practice Guidelines for molecular genetic testing of SCAs Prepared on behalf of the European Molecular Quality Genetics Network (EMQN) [作者：Sequeiros, J; Martindale, J; Seneca, S,期刊：European Journal of Human Genetics, 页码：1173-1176 , 文章类型： Article，,卷期：2010年18-11] Other participants at the EMQN Best Practice Meeting and/or at the electronic discussions thereafter were Isabel Alonso, Anna Andersson, David Barton, Nazli Bazac, Kyproula Christodoulou, Luis Correia, Mark Davis, Mary D...