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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17条记录   The medical geneticist as expert in the transgenerational and developmental aspects of diseases [作者：Kosztolanyi, G; Cassiman, JJ,期刊：European Journal of Human Genetics, 页码：1075-1076 , 文章类型： Editorial Material，,卷期：2010年18-10] The increased knowledge of genetics has raised new questions, and confusion has been growing about the evaluation of the results of recent research and the role of geneticists in the genomic medicine. If we focus on tran... Carrier screening for Beta-thalassaemia: a review of international practice [作者：Cousens, NE; Gaff, CL; Metcalfe, SA; Delatycki, MB,期刊：European Journal of Human Genetics, 页码：1077-1083 , 文章类型： Review，,卷期：2010年18-10] beta-thalassaemia is one of the most common single-gene inherited conditions in the world, and thalassaemia carrier screening is the most widely performed genetic screening test, occurring in many different countries. be... Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening [作者：McClaren, BJ; Metcalfe, SA; Aitken, M; Massie, RJ; Ukoumunne, OC; Amor, DJ,期刊：European Journal of Human Genetics, 页码：1084-1089 , 文章类型： Article，,卷期：2010年18-10] Newborn screening (NBS) for cystic fibrosis (CF) provides the opportunity for cascade carrier testing of relatives. Uptake of testing by adult non-parent relatives of children diagnosed with CF through NBS has not been p... A qualitative study exploring genetic counsellors' experiences of counselling children [作者：Ulph, F; Leong, J; Glazebrook, C; Townsend, E,期刊：European Journal of Human Genetics, 页码：1090-1094 , 文章类型： Article，,卷期：2010年18-10] The identification of healthy carriers by newborn screening programmes raises questions about how and when the carrier results will be conveyed to child. There is currently a lack of information concerning how best to co... Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements [作者：Whibley, A; Urquhart, J; Dore, J; Willatt, L; Parkin, G; Gaunt, L; Black, G; Donnai, D; Raymond, FL,期刊：European Journal of Human Genetics, 页码：1095-1099 , 文章类型： Article，,卷期：2010年18-10] Monoamine oxidases (MAO-A and MAO-B) have a key role in the degradation of amine neurotransmitters, such as dopamine, norepinephrine and serotonin. We identified an inherited 240 kb deletion on Xp11.3-p11.4, which encomp... New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish [作者：Morris-Rosendahl, DJ; Segel, R; Born, AP; Conrad, C; Loeys, B; Brooks, SS; Muller, L; Zeschnigk, C; Botti, C; Rabinowitz, R; Uyanik, G; Crocq, MA; Kraus, U; Degen, I; Faes, F,期刊：European Journal of Human Genetics, 页码：1100-1106 , 文章类型： Article，,卷期：2010年18-10] Warburg Micro Syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia... CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592 [作者：Nicolas, E; Poitelon, Y; Chouery, E; Salem, N; Levy, N; Megarbane, A; Delague, V,期刊：European Journal of Human Genetics, 页码：1107-1113 , 文章类型： Article，,卷期：2010年18-10] CAMOS (Cerebellar Ataxia with Mental retardation, Optic atrophy and Skin abnormalities) is a rare autosomal recessive syndrome characterized by a nonprogressive congenital cerebellar ataxia associated with mental retarda... Genomic profile of copy number variants on the short arm of human chromosome 8 [作者：Yu, SH; Fiedler, S; Stegner, A; Graf, WD,期刊：European Journal of Human Genetics, 页码：1114-1120 , 文章类型： Article，,卷期：2010年18-10] We evaluated 966 consecutive pediatric patients with various developmental disorders by high-resolution microarray-based comparative genomic hybridization and found 10 individuals with pathogenic copy number variants (CN... A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis [作者：Iseri, SAU; Durlu, YK; Tolun, A,期刊：European Journal of Human Genetics, 页码：1121-1126 , 文章类型： Article，,卷期：2010年18-10] Cone-rod dystrophies are inherited retinal dystrophies that are characterized by progressive degeneration of cones and rods, causing an early decrease in central visual acuity and colour vision defects, followed by loss ... A screening methodology based on Random Forests to improve the detection of gene-gene interactions [作者：De Lobel, L; Geurts, P; Baele, G; Castro-Giner, F; Kogevinas, M; Van Steen, K,期刊：European Journal of Human Genetics, 页码：1127-1132 , 文章类型： Article，,卷期：2010年18-10] The search for susceptibility loci in gene-gene interactions imposes a methodological and computational challenge for statisticians because of the large dimensionality inherent to the modelling of gene-gene interactions ... High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome [作者：Parri, V; Katzaki, E; Uliana, V; Scionti, F; Tita, R; Artuso, R; Longo, I; Boschloo, R; Vijzelaar, R; Selicorni, A; Brancati, F; Dallapiccola, B; Zelante, L; Hamel, CP; Sarda, P; Lalani, SR; Grasso, R; Buoni, S; Hayek, J; Servais, L; de Vries, BBA; Georgoudi, N; Nakou, S; Petersen, MB; Mari, F; Renieri, A; Ariani, F,期刊：European Journal of Human Genetics, 页码：1133-1140 , 文章类型： Article，,卷期：2010年18-10] Cohen syndrome is a rare, clinically variable autosomal recessive disorder characterized by mental retardation, postnatal microcephaly, facial dysmorphisms, ocular abnormalities and intermittent neutropenia. Mutations in... Genome-wide linkage analyses of hereditary prostate cancer families with colon cancer provide further evidence for a susceptibility locus on 15q11-q14 [作者：FitzGerald, LM; McDonnell, SK; Carlson, EE; Langeberg, W; McIntosh, LM; Deutsch, K; Ostrander, EA; Schaid, DJ; Stanford, JL,期刊：European Journal of Human Genetics, 页码：1141-1147 , 文章类型： Article，,卷期：2010年18-10] The search for susceptibility loci in hereditary prostate cancer (HPC) is challenging because of locus and disease heterogeneity. One approach to reduce disease heterogeneity is to stratify families on the basis of the o... A powerful score test to detect positive selection in genome-wide scans [作者：Zhong, M; Lange, K; Papp, JC; Fan, RZ,期刊：European Journal of Human Genetics, 页码：1148-1159 , 文章类型： Article，,卷期：2010年18-10] One of the surest signatures of recent positive selection is a local elevation of advantageous allele frequency and linkage disequilibrium (LD). We proposed to detect such hitchhiking effects by using extended stretches ... Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase [作者：Levitas, A; Muhammad, E; Harel, G; Saada, A; Caspi, VC; Manor, E; Beck, JC; Sheffield, V; Parvari, R,期刊：European Journal of Human Genetics, 页码：1160-1165 , 文章类型： Article，,卷期：2010年18-10] Cardiomyopathies are common disorders resulting in heart failure; the most frequent form is dilated cardiomyopathy (DCM), which is characterized by dilatation of the left or both ventricles and impaired systolic function... Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies [作者：de Becdelievre, A; Costa, C; LeFloch, A; Legendre, M; Jouannic, JM; Vigneron, J; Bresson, JL; Gobin, S; Martin, J; Goossens, M; Girodon, E,期刊：European Journal of Human Genetics, 页码：1166-1169 , 文章类型： Article，,卷期：2010年18-10] Grade III fetal bowel hyperechogenicity and/or loop dilatation observed at the second trimester of pregnancy can be due to several disease conditions, including cystic fibrosis (CF). Screening for frequent CF mutations i... The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype (vol 18, pg 163, 2010) [作者：Van Bon, BWM; Koolen, DA; Brueton, L; McMullan, D; Lichtenbelt, KD; Ades, LC; Peters, G; Gibson, K; Moloney, S; Novara, F; Pramparo, T; Dalla Bernardina, B; Zoccante, L; Balottin, U; Piazza, F; Pecile, V; Gasparini, P; Guerci, V; Kets, M; Pfundt, R; de Brouwer, AP; Veltman, JA; de Leeuw, N; Wilson, M; Antony, J; Reitano, S; Luciano, D; Fichera, M; Romano, C; Brunner, HG; Zuffardi, O; de Vries, BBA,期刊：European Journal of Human Genetics, 页码：1171-1171 , 文章类型： Correction，,卷期：2010年18-10]