- An international external quality assessment for molecular diagnosis of hereditary recurrent fevers: a 3-year scheme demonstrates the need for improvement
[作者：Touitou, I; Rittore, C; Philibert, L; Yague, J; Shinar, Y; Aksentijevich, I,期刊：European Journal of Human Genetics, 页码：890-896 , 文章类型： Article，,卷期：2009年17-7]
- Hereditary recurrent fevers (HRF) are rare diseases caused by molecular defects in genes involved in the regulation of innate immunity. Sixty-seven international laboratories participated in an external quality assessmen...
- An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion
[作者：Lybaek, H; Orstavik, KH; Prescott, T; Hovland, R; Breilid, H; Stansberg, C; Steen, VM; Houge, G,期刊：European Journal of Human Genetics, 页码：904-910 , 文章类型： Article，,卷期：2009年17-7]
- In a 2 and a half-year-old girl with onset of puberty before the age of 5 months, short stature, hand anomalies and severe mental retardation, an 8.9 Mb interstitial 19p13 duplication containing 215 predicted genes was d...
- Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia
[作者：Haverfield, EV; Whited, AJ; Petras, KS; Dobyns, WB; Das, S,期刊：European Journal of Human Genetics, 页码：911-918 , 文章类型： Article，,卷期：2009年17-7]
- Classical lissencephaly, or isolated lissencephaly sequence (ILS), and subcortical band heterotopia (SBH) are neuronal migration disorders associated with severe mental retardation and epilepsy. Abnormalities of the LIS1...
- Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome
[作者：Giunti, L; Cetica, V; Ricci, U; Giglio, S; Sardi, I; Paglierani, M; Andreucci, E; Sanzo, M; Forni, M; Buccoliero, AM; Genitori, L; Genuardi, M,期刊：European Journal of Human Genetics, 页码：919-927 , 文章类型： Article，,卷期：2009年17-7]
- Microsatellite instability (MSI) is present in hereditary conditions due to mismatch repair (MMR) gene mutations. Following MSI analysis, tumor samples are classified into MSS (stable), MSI-L (low instability), and MSI-H...
- Increased expression of the Hutchinson-Gilford progeria syndrome truncated lamin A transcript during cell aging
[作者：Rodriguez, S; Coppede, F; Sagelius, H; Eriksson, M,期刊：European Journal of Human Genetics, 页码：928-937 , 文章类型： Article，,卷期：2009年17-7]
- Most cases of the segmental progeroid syndrome, Hutchinson-Gilford progeria syndrome (HGPS), are caused by a de novo dominant mutation within a single codon of the LMNA gene. This mutation leads to the increased usage of...
- The complex interaction between APOE promoter and AD: an Italian case-control study
[作者：Bizzarro, A; Seripa, D; Acciarri, A; Matera, MG; Pilotto, A; Tiziano, FD; Brahe, C; Masullo, C,期刊：European Journal of Human Genetics, 页码：938-945 , 文章类型： Article，,卷期：2009年17-7]
- The single nucleotide polymorphisms (SNPs) rs449647, rs769446 and rs405509 in the promoter region of the APOE gene have been variously suggested to be epsilon 4-independent risk factors for Alzheimer's disease (AD). A pr...
- Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis
[作者：Need, AC; Keefe, RSE; Ge, DL; Grossman, I; Dickson, S; McEvoy, JP; Goldstein, DB,期刊：European Journal of Human Genetics, 页码：946-957 , 文章类型： Article，,卷期：2009年17-7]
- The Clinical Antipsychotic Trials of Intervention Effectiveness (CATIE) Phase 1 Schizophrenia trial compared the effectiveness of one typical and four atypical antipsychotic medications. Although trials such as CATIE pre...
- Suggestive linkage of ADHD to chromosome 18q22 in a young genetically isolated Dutch population
[作者：Amin, N; Aulchenko, YS; Dekker, MC; Ferdinand, RF; van Spreeken, A; Temmink, AH; Verhulst, FC; Oostra, BA; van Duijn, CM,期刊：European Journal of Human Genetics, 页码：958-966 , 文章类型： Article，,卷期：2009年17-7]
- Attention deficit/hyperactivity disorder (ADHD) is a common, highly heritable, neuropsychiatric disorder among children. Linkage studies in isolated populations have proved powerful to detect variants for complex disease...
- An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population
[作者：Lu, TT; Lao, O; Nothnagel, M; Junge, O; Freitag-Wolf, S; Caliebe, A; Balascakova, M; Bertranpetit, J; Bindoff, LA; Comas, D; Holmlund, G; Kouvatsi, A; Macek, M; Mollet, I; Nielsen, F; Parson, W; Palo, J; Ploski, R; Sajantila, A; Tagliabracci, A; Gether, U; Werge, T; Rivadeneira, F; Hofman, A; Uitterlinden, AG; Gieger, C; Wichmann, HE; Ruether, A; Schreiber, S; Becker, C; Nurnberg, P; Nelson, MR; Kayser, M; Krawczak, M,期刊：European Journal of Human Genetics, 页码：967-975 , 文章类型： Article，,卷期：2009年17-7]
- Genetic matching potentially provides a means to alleviate the effects of incomplete Mendelian randomization in population-based gene-disease association studies. We therefore evaluated the genetic-matched pair study des...
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