- Novel isoforms of the CARD8 (TUCAN) gene evade a nonsense mutation
[作者:Bagnall, RD; Roberts, RG; Mirza, MM; Torigoe, T; Prescott, NJ; Mathew, CG,期刊:European Journal of Human Genetics, 页码:619-625 , 文章类型: Article,,卷期:2008年16-5]
- CARD8 ( TUCAN) is implicated in the regulation of apoptosis and inflammation, and is a positional and functional candidate gene for inflammatory bowel disease ( IBD). Recent investigations have reported conflicting resul...
- HHEX gene polymorphisms are associated with type 2 diabetes in the Dutch Breda cohort
[作者:van Vliet-Ostaptchouk, JV; Onland-Moret, NC; van Haeften, TW; Franke, L; Elbers, CC; Shiri-Sverdlov, R; van der Schouw, YT; Hofker, MH; Wijmenga, C,期刊:European Journal of Human Genetics, 页码:652-656 , 文章类型: Article,,卷期:2008年16-5]
- Recently, the hematopoietically expressed homeobox ( HHEX) gene, encoding a transcription factor, was identified in a large genome-wide scan in French individuals as a type 2 diabetes ( T2D)-susceptibility locus. We aime...
- Linkage and association analysis of CACNG3 in childhood absence epilepsy (vol 15, pg 463, 2007)
[作者:Everett, K; Chioza, B; Aicardi, J; Aschauer, H; Brouwer, O; Callenbach, P; Covanis, A; Dulac, O; Eeg-Olofsson, O; Feucht, M; Friis, M; Goutieres, F; Guerrini, R; Heils, A; Kjeldsen, M; Lehesjoki, AE; Makoff, A; Nabbout, R; Olsson, I; Sander, T; Siren, A; McKeigue, P; Robinson, R; Taske, N; Rees, M; Gardiner, M,期刊:European Journal of Human Genetics, 页码:659-660 , 文章类型: Correction,,卷期:2008年16-5]
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- Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness (vol 16, pg 89, 2008)
[作者:Lezirovitz, K; Pardono, E; Auricchio, TBD; Silva, FLDE; Lopes, JJ; Abreu-Silva, RS; Romanos, J; Batissoco, AC; Mingroni-Netto, RC,期刊:European Journal of Human Genetics, 页码:660-660 , 文章类型: Correction,,卷期:2008年16-5]
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- Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach (vol 15, pg 81, 2007)
[作者:Tomiuk, J; Bachmann, L; Bauer, C; Rolfs, A; Schols, L; Roos, C; Zischler, H; Schuler, MM; Bruntner, S; Riess, O; Bauer, P,期刊:European Journal of Human Genetics, 页码:661-661 , 文章类型: Correction,,卷期:2008年16-5]
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- Searching for genes influencing a complex disease: the case of coeliac disease
[作者:Naluai, AT; Ascher, H; Nilsson, S; Wahlstrom, J,期刊:European Journal of Human Genetics, 页码:542-553 , 文章类型: Review,,卷期:2008年16-5]
- Recently, a few genes have been reported to be causative in inflammatory diseases. Still, we are waiting for the vast majority to be discovered. New tools for genotyping and statistical analysis have been developed and e...
- MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment
[作者:Priolo, M; Sparago, A; Mammi, C; Cerrato, F; Lagana, C; Riccio, A,期刊:European Journal of Human Genetics, 页码:565-571 , 文章类型: Article,,卷期:2008年16-5]
- Human chromosome 11p15.5 harbours a large cluster of imprinted genes. Different epigenetic defects at this locus have been associated with both Beckwith - Wiedemann syndrome ( BWS) and Silver - Russell syndrome ( SRS). M...
- Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions
[作者:Steinmann, K; Kluwe, L; Cooper, DN; Brems, H; De Raedt, T; Legius, E; Mautner, VF; Kehrer-Sawatzki, H,期刊:European Journal of Human Genetics, 页码:572-580 , 文章类型: Article,,卷期:2008年16-5]
- Gross deletions of the NF1 gene at 17q11.2 belong to the group of ' genomic disorders' characterized by local sequence architecture that predisposes to genomic rearrangements. Segmental duplications within regions associ...
- Sporadic mutations in melanocortin receptor 3 in morbid obese individuals
[作者:Mencarelli, M; Walker, GE; Maestrini, S; Alberti, L; Verti, B; Brunani, A; Petroni, ML; Tagliaferri, M; Liuzzi, A; Di Blasio, AM,期刊:European Journal of Human Genetics, 页码:581-586 , 文章类型: Article,,卷期:2008年16-5]
- Several mutations in the melanocortin receptor 4 gene have been identified in humans and account for 3 - 6% of morbid obesity. In contrast, strong evidence of a causative role for melanocortin receptor 3 ( MC3R) mutation...
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