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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23条记录   Confirmation of MET gene association with austism When linkage signal for autism MET candidate gene [作者：Campbell, DB,期刊：European Journal of Human Genetics, 页码：699-700 , 文章类型： Editorial Material，,卷期：2009年17-6] LIS1 and DCX MLPA Listen carefully: LIS1 and DCX MLPA in lissencephaly and subcortical band heterotopia [作者：Delatycki, MB; Leventer, RJ,期刊：European Journal of Human Genetics, 页码：701-702 , 文章类型： Editorial Material，,卷期：2009年17-6] Charcot-Marie-Tooth disease [作者：Szigeti, K; Lupski, JR,期刊：European Journal of Human Genetics, 页码：703-710 , 文章类型： Article，,卷期：2009年17-6] Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of genetic disorders presenting with the phenotype of a chronic progressive neuropathy affecting both the motor and sensory nerves. During the last decade over t... Genetic testing in asymptomatic minors Background considerations towards ESHG Recommendations [作者：Borry, P; Evers-Kiebooms, G; Cornel, MC; Clarke, A; Dierickx, K,期刊：European Journal of Human Genetics, 页码：711-719 , 文章类型： Article，,卷期：2009年17-6] Although various guidelines and position papers have discussed, in the past, the ethical aspects of genetic testing in asymptomatic minors, the European Society of Human Genetics had not earlier endorsed any set of guide... Genetic testing in asymptomatic minors: recommendations of the European Society of Human Genetics Recommendations of the European Society of Human Genetics [作者：Borry, P; Evers-Kiebooms, G; Cornel, MC; Clarke, A; Dierickx, K,期刊：European Journal of Human Genetics, 页码：720-721 , 文章类型： Editorial Material，,卷期：2009年17-6] Breast cancer susceptibility: current knowledge and implications for genetic counselling [作者：Ripperger, T; Gadzicki, D; Meindl, A; Schlegelberger, B,期刊：European Journal of Human Genetics, 页码：722-731 , 文章类型： Review，,卷期：2009年17-6] Breast cancer is the most common malignancy in women in the Western world. Except for the high breast cancer risk in BRCA1 and BRCA2 mutation carriers as well as the risk for breast cancer in certain rare syndromes cause... EuroGentest patient information leaflets: a free resource available in over 20 languages [作者：Lewis, C; Kent, A; Skirton, H; Coviello, D,期刊：European Journal of Human Genetics, 页码：732-732 , 文章类型： Letter，,卷期：2009年17-6] Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations [作者：Dentici, ML; Sarkozy, A; Pantaleoni, F; Carta, C; Lepri, F; Ferese, R; Cordeddu, V; Martinelli, S; Briuglia, S; Digilio, MC; Zampino, G; Tartaglia, M; Dallapiccola, B,期刊：European Journal of Human Genetics, 页码：733-740 , 文章类型： Article，,卷期：2009年17-6] Cardio-facio-cutaneous syndrome (CFCS) is a rare disease characterized by mental retardation, facial dysmorphisms, ectodermal abnormalities, heart defects and developmental delay. CFCS is genetically heterogeneous and mu... Rational diagnostic strategy for Zellweger syndrome spectrum patients [作者：Krause, C; Rosewich, H; Gartner, J,期刊：European Journal of Human Genetics, 页码：741-748 , 文章类型： Article，,卷期：2009年17-6] Zellweger syndrome spectrum (ZSS) comprises a clinically and genetically heterogeneous disease entity, which is caused by mutations in any of the 12 different human PEX genes leading to impaired biogenesis of the peroxis... MET and autism susceptibility: family and case-control studies [作者：Sousa, I; Clark, TG; Toma, C; Kobayashi, K; Choma, M; Holt, R; Sykes, NH; Lamb, JA; Bailey, AJ; Battaglia, A; Maestrini, E; Monaco, AP,期刊：European Journal of Human Genetics, 页码：749-758 , 文章类型： Article，,卷期：2009年17-6] Autism is a common, severe and highly heritable neurodevelopmental disorder. The International Molecular Genetic Study of Autism Consortium (IMGSAC) genome screen for linkage in affected sib-pair families identified a ch... Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping [作者：Divina, P; Kvitkovicova, A; Buratti, E; Vorechovsky, I,期刊：European Journal of Human Genetics, 页码：759-765 , 文章类型： Article，,卷期：2009年17-6] Mutations that affect splicing of precursor messenger RNAs play a major role in the development of hereditary diseases. Most splicing mutations have been found to eliminate GT or AG dinucleotides that define the 50 and 3... Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients [作者：Lorenz, D; Klebe, S; Stevanin, G; Thier, S; Nebel, A; Feingold, J; Frederiksen, H; Denis, E; Christensen, K; Schreiber, S; Brice, A; Deuschl, G; Durr, A,期刊：European Journal of Human Genetics, 页码：766-773 , 文章类型： Article，,卷期：2009年17-6] The genetic causes of essential tremor (ET) seem to be heterogeneous. Recently, ET has been found associated with a functional variant (Ser9Gly) of the dopamine D-3 receptor (DRD3), located in the ETM1 locus on chromosom... The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P [作者：Choi, SJ; Marazita, ML; Hart, PS; Sulima, PP; Field, LL; McHenry, TG; Govil, M; Cooper, ME; Letra, A; Menezes, R; Narayanan, S; Mansilla, MA; Granjeiro, JM; Vieira, AR; Lidral, AC; Murray, JC; Hart, TC,期刊：European Journal of Human Genetics, 页码：774-784 , 文章类型： Article，,卷期：2009年17-6] Human linkage and association studies suggest a gene(s) for nonsyndromic cleft lip with or without cleft palate (CL/P) on chromosome 4q31-q32 at or near the platelet-derived growth factor-C (PDGF-C) locus. The mouse Pdgf... Gains in power for exhaustive analyses of haplotypes using variable-sized sliding window strategy: a comparison of association-mapping strategies [作者：Guo, YF; Li, J; Bonham, AJ; Wang, YP; Deng, HW,期刊：European Journal of Human Genetics, 页码：785-792 , 文章类型： Article，,卷期：2009年17-6] Linkage disequilibrium (LD)-based association mapping is often performed by analyzing either individual SNPs or block-based multi-SNP haplotypes. Sliding windows of several fixed sizes (in terms of SNP numbers) were also... Variable number of tandem repeat polymorphisms of DRD4: re-evaluation of selection hypothesis and analysis of association with schizophrenia [作者：Hattori, E; Nakajima, M; Yamada, K; Iwayama, Y; Toyota, T; Saitou, N; Yoshikawa, T,期刊：European Journal of Human Genetics, 页码：793-801 , 文章类型： Article，,卷期：2009年17-6] Associations have been reported between the variable number of tandem repeat (VNTR) polymorphisms in the exon 3 of dopamine D4 receptor gene gene and multiple psychiatric illnesses/traits. We examined the distribution of... Global similarity with local differences in linkage disequilibrium between the Dutch and HapMap-CEU populations [作者：Pardo, L; Bochdanovits, Z; de Geus, E; Hottenga, JJ; Sullivan, P; Posthuma, D; Penninx, BWJH; Boomsma, D; Heutink, P,期刊：European Journal of Human Genetics, 页码：802-810 , 文章类型： Article，,卷期：2009年17-6] The HapMap project has facilitated the selection of tagging single nucleotide polymorphisms (tagSNPs) for genome-wide association studies (GWAS) under the assumption that linkage disequilibrium (LD) in the HapMap populat...