- Menkes disease
[作者：Tumer, Z; Moller, LB,期刊：European Journal of Human Genetics, 页码：511-518 , 文章类型： Article，,卷期：2010年18-5]
- Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar 'kinky' hair are the main manifestations. MD is in...
- Italian appeal court: a genetic predisposition to commit murder?
[作者：Forzano, F; Borry, P; Cambon-Thomsen, A; Hodgson, SV; Tibben, A; de Vries, P; van El, C; Cornel, M,期刊：European Journal of Human Genetics, 页码：519-521 , 文章类型： Article，,卷期：2010年18-5]
- A few months ago, the controversial debate on connection between genetic variants and antisocial behaviour gained renewed prominence after the sentence of an Italian judge who decided to further reduce the prison sentenc...
- Legal and ethical consequences of international biobanking from a national perspective: the German BMB-EUCoop project
[作者：Goebel, JW; Pickardt, T; Bedau, M; Fuchs, M; Lenk, C; Paster, I; Spranger, TM; Stockter, U; Bauer, U; Cooper, DN; Krawczak, M,期刊：European Journal of Human Genetics, 页码：522-525 , 文章类型： Article，,卷期：2010年18-5]
- The international transfer of human biomaterial and data has become a prerequisite for collaborative biomedical research to be successful. However, although a national legal framework for 'biobanking' has already been fo...
- Enhancer elements upstream of the SHOX gene are active in the developing limb
[作者：Durand, C; Bangs, F; Signolet, J; Decker, E; Tickle, C; Rappold, G,期刊：European Journal of Human Genetics, 页码：527-532 , 文章类型： Article，,卷期：2010年18-5]
- Leri-Weill Dyschondrosteosis (LWD) is a dominant skeletal disorder characterized by short stature and distinct bone anomalies. SHOX gene mutations and deletions of regulatory elements downstream of SHOX resulting in hapl...
- New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?
[作者：Barat-Houari, M; Nguyen, K; Bernard, R; Fernandez, C; Vovan, C; Bareil, C; Van Kien, PK; Thorel, D; Tuffery-Giraud, S; Vasseur, F; Attarian, S; Pouget, J; Girardet, A; Levy, N; Claustres, M,期刊：European Journal of Human Genetics, 页码：533-538 , 文章类型： Article，,卷期：2010年18-5]
- Molecular pathophysiology of facioscapulohumeral muscular dystrophy (FSHD) involves the heterozygous contraction of the number of tandemly repeated D4Z4 units at chromosome 4q35.2. FSHD is associated with a range of 1-10...
- Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing
[作者：Chen, W; Ullmann, R; Langnick, C; Menzel, C; Wotschofsky, Z; Hu, H; Doring, A; Hu, YH; Kang, H; Tzschach, A; Hoeltzenbein, M; Neitzel, H; Markus, S; Wiedersberg, E; Kistner, G; van Ravenswaaij-Arts, CMA; Kleefstra, T; Kalscheuer, VM; Ropers, HH,期刊：European Journal of Human Genetics, 页码：539-543 , 文章类型： Article，,卷期：2010年18-5]
- Characterisation of breakpoints in disease-associated balanced chromosome rearrangements (DBCRs), which disrupt or inactivate specific genes, has facilitated the molecular elucidation of a wide variety of genetic disorde...
- CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes
[作者：Hackett, A; Tarpey, PS; Licata, A; Cox, J; Whibley, A; Boyle, J; Rogers, C; Grigg, J; Partington, M; Stevenson, RE; Tolmie, J; Yates, JRW; Turner, G; Wilson, M; Futreal, AP; Corbett, M; Shaw, M; Gecz, J; Raymond, FL; Stratton, MR; Schwartz, CE; Abidi, FE,期刊：European Journal of Human Genetics, 页码：544-552 , 文章类型： Article，,卷期：2010年18-5]
- Mutations of the calcium/calmodulin-dependent serine protein kinase (CASK) gene have recently been associated with X-linked mental retardation (XLMR) with microcephaly, optic atrophy and brainstem and cerebellar hypoplas...
- Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression
[作者：Poplawski, AB; Jankowski, M; Erickson, SW; de Stahl, TD; Partridge, EC; Crasto, C; Guo, JY; Gibson, J; Menzel, U; Bruder, CEG; Kaczmarczyk, A; Benetkiewicz, M; Andersson, R; Sandgren, J; Zegarska, B; Bala, D; Srutek, E; Allison, DB; Piotrowski, A; Zegarski, W; Dumanski, JP,期刊：European Journal of Human Genetics, 页码：560-568 , 文章类型： Article，,卷期：2010年18-5]
- Breast cancer is a major cause of morbidity and mortality in women and its metastatic spread is the principal reason behind the fatal outcome. Metastasis-related research of breast cancer is however underdeveloped when c...
- Genome-wide SNP analysis reveals no gain in power for association studies of common variants in the Finnish Saami
[作者：Huyghe, JR; Fransen, E; Hannula, S; Van Laer, L; Van Eyken, E; Maki-Torkko, E; Lysholm-Bernacchi, A; Aikio, P; Stephan, DA; Sorri, M; Huentelman, MJ; Van Camp, G,期刊：European Journal of Human Genetics, 页码：569-574 , 文章类型： Article，,卷期：2010年18-5]
- The Saami from Fennoscandia are believed to represent an ancient, genetically isolated population with no evidence of population expansion. Theoretical work has indicated that under this demographic scenario, extensive l...
- Complete mitochondrial DNA sequences provide new insights into the Polynesian motif and the peopling of Madagascar
[作者：Razafindrazaka, H; Ricaut, FX; Cox, MP; Mormina, M; Dugoujon, JM; Randriamarolaza, LP; Guitard, E; Tonasso, L; Ludes, B; Crubezy, E,期刊：European Journal of Human Genetics, 页码：575-581 , 文章类型： Article，,卷期：2010年18-5]
- More than a decade of mitochondrial DNA (mtDNA) studies have given the 'Polynesian motif' renowned status as a marker for tracing the late-Holocene expansion of Austronesian speaking populations. Despite considerable res...
- Systematic genotype-phenotype analysis of autism susceptibility loci implicates additional symptoms to co-occur with autism
[作者：Buizer-Voskamp, JE; Franke, L; Staal, WG; van Daalen, E; Kemner, C; Ophoff, RA; Vorstman, JAS; van Engeland, H; Wijmenga, C,期刊：European Journal of Human Genetics, 页码：588-595 , 文章类型： Article，,卷期：2010年18-5]
- Many genetic studies in autism have been performed, resulting in the identification of multiple linkage regions and cytogenetic aberrations, but little unequivocal evidence for the involvement of specific genes exists. B...
- A data-driven weighting scheme for family-based genome-wide association studies
[作者：Qin, HZ; Feng, T; Zhang, SL; Sha, QY,期刊：European Journal of Human Genetics, 页码：596-603 , 文章类型： Article，,卷期：2010年18-5]
- Recently, Steen et al proposed a novel two-stage approach for family-based genome-wide association studies. In the first stage, a test based on between-family information is used to rank SNPs according to their P-values ...
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