- Does the new HapMap throw the baby out with the bath water?
[作者:Santos, PSC; Hohne, J; Poerner, F; Bicalho, MD; Uchanska-Ziegler, B; Ziegler, A,期刊:European Journal of Human Genetics, 页码:733-734 , 文章类型: Letter,,卷期:2011年19-7]
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- Not so simple: a quasi-experimental study of how researchers adjudicate genetic research results
[作者:Hayeems, RZ; Miller, FA; Li, L; Bytautas, JP,期刊:European Journal of Human Genetics, 页码:740-747 , 文章类型: Article,,卷期:2011年19-7]
- Ethicists contend that researchers are obliged to report genetic research findings to individual study participants when they are clinically significant, that is, when they are clinically useful or personally meaningful ...
- Mild CFTR mutations and genetic predisposition to lactase persistence in cystic fibrosis
[作者:Madry, E; Fidler, E; Sobczynska-Tomaszewska, A; Lisowska, A; Krzyzanowska, P; Pogorzelski, A; Minarowski, L; Oralewska, B; Mojs, E; Sapiejka, E; Marciniak, R; Sands, D; Korzon-Burakowska, A; Kwiecien, J; Walkowiak, J,期刊:European Journal of Human Genetics, 页码:748-752 , 文章类型: Article,,卷期:2011年19-7]
- Taking into account the reported incidence of hypolactasia in cystic fibrosis (CF) and the possible impact of milk products on nutritional status we aimed to assess the genetic predisposition to adult-type hypolactasia (...
- Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring
[作者:Stark, Z; Storen, R; Bennetts, B; Savarirayan, R; Jamieson, RV,期刊:European Journal of Human Genetics, 页码:753-756 , 文章类型: Article,,卷期:2011年19-7]
- Isolated hypogonadotropic hypogonadism (IHH) is a genetically heterogeneous condition in which patients frequently require assisted reproduction to achieve fertility. In patients with IHH who are otherwise well, no parti...
- Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3
[作者:Hurst, JA; Jenkins, D; Vasudevan, PC; Kirchhoff, M; Skovby, F; Rieubland, C; Gallati, S; Rittinger, O; Kroisel, PM; Johnson, D; Biesecker, LG; Wilkie, AOM,期刊:European Journal of Human Genetics, 页码:757-762 , 文章类型: Article,,卷期:2011年19-7]
- Greig cephalopolysyndactyly syndrome (GCPS) is a multiple congenital malformation characterised by limb and craniofacial anomalies, caused by heterozygous mutation or deletion of GLI3. We report four boys and a girl who ...
- Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model
[作者:Mester, JL; Tilot, AK; Rybicki, LA; Frazier, TW; Eng, C,期刊:European Journal of Human Genetics, 页码:763-768 , 文章类型: Article,,卷期:2011年19-7]
- PTEN Hamartoma Tumour Syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), and other conditions resulting from germline mutation of the PTEN tumour suppressor gene. Although macrocepha...
- Respiratory chain complex I deficiency caused by mitochondrial DNA mutations
[作者:Swalwell, H; Kirby, DM; Blakely, EL; Mitchell, A; Salemi, R; Sugiana, C; Compton, AG; Tucker, EJ; Ke, X; Lamont, PJ; Turnbull, DM; McFarland, R; Taylor, RW; Thorburn, DR,期刊:European Journal of Human Genetics, 页码:769-775 , 文章类型: Article,,卷期:2011年19-7]
- Defects of the mitochondrial respiratory chain are associated with a diverse spectrum of clinical phenotypes, and may be caused by mutations in either the nuclear or the mitochondrial genome (mitochondrial DNA (mtDNA)). ...
- Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland
[作者:Suominen, T; Bachinski, LL; Auvinen, S; Hackman, P; Baggerly, KA; Angelini, C; Peltonen, L; Krahe, R; Udd, B,期刊:European Journal of Human Genetics, 页码:776-782 , 文章类型: Article,,卷期:2011年19-7]
- Myotonic dystrophy (DM) is the most common adult-onset muscular dystrophy with an estimated prevalence of 1/8000. There are two genetically distinct types, DM1 and DM2. DM2 is generally milder with more phenotypic variab...
- The expanded human disease network combining protein-protein interaction information
[作者:Zhang, XH; Zhang, RJ; Jiang, YS; Sun, P; Tang, GP; Wang, X; Lv, HC; Li, X,期刊:European Journal of Human Genetics, 页码:783-788 , 文章类型: Article,,卷期:2011年19-7]
- The human disease network (HDN) has become a powerful tool for revealing disease-disease associations. Some studies have shown that genes that share similar or same disease phenotypes tend to encode proteins that interac...
- Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence
[作者:Dunlop, EA; Dodd, KM; Land, SC; Davies, PA; Martins, N; Stuart, H; McKee, S; Kingswood, C; Saggar, A; Corderio, I; Medeira, AMD; Kingston, H; Sampson, JR; Davies, DM; Tee, AR,期刊:European Journal of Human Genetics, 页码:789-795 , 文章类型: Article,,卷期:2011年19-7]
- Tuberous sclerosis complex (TSC) is a genetic condition characterized by the growth of benign tumours in multiple organs, including the brain and kidneys, alongside intellectual disability and seizures. Identification of...
- Identification of ACOX2 as a shared genetic risk factor for preeclampsia and cardiovascular disease
[作者:Johansson, A; Curran, JE; Johnson, MP; Freed, KA; Fenstad, MH; Bjorge, L; Eide, IP; Carless, MA; Rainwater, DL; Goring, HHH; Austgulen, R; Moses, EK; Blangero, J,期刊:European Journal of Human Genetics, 页码:796-800 , 文章类型: Article,,卷期:2011年19-7]
- Preeclampsia (PE) is a serious complication of pregnancy, which is highly correlated with later life cardiovascular disease (CVD). Many risk factors are common for both diseases, but the contribution of shared genes rema...
- Simple strategies for haplotype analysis of the X chromosome with application to age-related macular degeneration
[作者:Jiang, RF; Dong, JP; Joo, J; Geller, NL; Zheng, G,期刊:European Journal of Human Genetics, 页码:801-806 , 文章类型: Article,,卷期:2011年19-7]
- For haplotype analysis of the X chromosome, haplotype-sharing (HS) statistics with sliding windows are defined for males and females separately, which are then combined to a single HS test for the X chromosome. When inde...
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