- Patenting and licensing in genetic testing
[作者：Ayme, S; Matthijs, G; Soini, S,期刊：European Journal of Human Genetics, 页码：405-411 , 文章类型： Article，,卷期：2008年16-4]
- Patents for inventions can be beneficial for society, if they drive innovation and promote progress. In most areas, the patenting system works satisfactorily. However, it must be recognized that in some instances it can ...
- Smith-Magenis syndrome
[作者：Elsea, SH; Girirajan, S,期刊：European Journal of Human Genetics, 页码：412-421 , 文章类型： Article，,卷期：2008年16-4]
- Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder caused by haploinsufficiency of the retinoic acid-induced 1 (RAI1) gene on chromosome 17p11.2. Diagnostic strategies include molecular identification of ...
- 'It is not in my world': an exploration of attitudes and influences associated with cystic fibrosis carrier screening
[作者：McClaren, BJ; Delatycki, MB; Collins, V; Metcalfe, SA; Aitken, M,期刊：European Journal of Human Genetics, 页码：435-444 , 文章类型： Article，,卷期：2008年16-4]
- Carrier screening for cystic fibrosis has been recommended for pregnant women and their partners, individuals and couples prior to conception, and for people with a family history. Many pilot programmes offering cystic f...
- What is ideal genetic counselling? A survey of current international guidelines
[作者：Rantanen, E; Hietala, M; Kristoffersson, U; Nippert, I; Schmidtke, J; Sequeiros, J; Kaariainen, H,期刊：European Journal of Human Genetics, 页码：445-452 , 文章类型： Article，,卷期：2008年16-4]
- The objective of this article is to review guidelines that address counselling in the context of genetic testing in order to summarise what aspects of counselling they consider most important, and to examine how they con...
- Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings
[作者：Boonen, SE; Poerksen, S; Mackay, DJG; Oestergaard, E; Olsen, B; Brondum-Nielsen, K; Temple, IK; Hahnemann, JMD,期刊：European Journal of Human Genetics, 页码：453-461 , 文章类型： Article，,卷期：2008年16-4]
- We present the first clinical report of sibs with the multiple maternal hypomethylation syndrome. Both sisters presented with transient neonatal diabetes mellitus (TNDM). By methylation-specific PCR of bisulphite-treated...
- Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease
[作者：Bachetti, T; Caroli, F; Bocca, P; Prigione, I; Balbi, P; Biancheri, R; Filocamo, M; Mariotti, C; Pareyson, D; Ravazzolo, R; Ceccherini, I,期刊：European Journal of Human Genetics, 页码：462-470 , 文章类型： Article，,卷期：2008年16-4]
- Alexander disease is a neurological genetic disorder characterized by progressive white-matter degeneration, with astrocytes containing cytoplasmic aggregates, called Rosenthal fibers, including the intermediate filament...
- Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson's disease patients
[作者：Nuytemans, K; Rademakers, R; Theuns, J; Pals, P; Engelborghs, S; Pickut, B; de Pooter, T; Peeters, K; Mattheijssens, M; Van den Broeck, M; Cras, P; De Deyn, PP; van Broeckhoven, C,期刊：European Journal of Human Genetics, 页码：471-479 , 文章类型： Article，,卷期：2008年16-4]
- We determined the prevalence of mutations in two major functional domains of the leucine-rich repeat kinase 2 gene (LRRK2) in Belgian Parkinson's disease (PD) patients (N = 304) of which 18.1% were familial PD patients. ...
- Within-family outliers: segregating alleles or environmental effects? A linkage analysis of height from 5815 sibling pairs
[作者：Benyamin, B; Perola, M; Cornes, BK; Madden, PAF; Palotie, A; Nyholt, DR; Montgomery, GW; Peltonen, L; Martin, NG; Visscher, PM,期刊：European Journal of Human Genetics, 页码：516-524 , 文章类型： Article，,卷期：2008年16-4]
- Most information in linkage analysis for quantitative traits comes from pairs of relatives that are phenotypically most discordant or concordant. Confounding this, within-family outliers from non-genetic causes may creat...
- The exon 1-8C/G SNP in the PSMA6 gene contributes only a small amount to the burden of myocardial infarction in 6946 cases and 2720 controls from a United Kingdom population
[作者：Bennett, DA; Xu, P; Clarke, R; Zondervan, K; Parish, S; Palmer, A; Cardon, L; Peto, R; Lathrop, M; Collins, R,期刊：European Journal of Human Genetics, 页码：480-486 , 文章类型： Article，,卷期：2008年16-4]
- The proteasome system is a proteolytic pathway that regulates the expression of genes involved in inflammation. Polymorphisms in the gene encoding subunit a type 6 (PSMA6) - in particular the rs1048990 exon 1-8C/G SNP - ...
- XLMR genes: update 2007
[作者：Chiurazzi, P; Schwartz, CE; Gecz, J; Neri, G,期刊：European Journal of Human Genetics, 页码：422-434 , 文章类型： Review，,卷期：2008年16-4]
- X-linked mental retardation (XLMR) is a common cause of inherited intellectual disability with an estimated prevalence of similar to 1/1000 males. Most XLMR conditions are inherited as X-linked recessive traits, although...
- 8q24 and prostate cancer: association with advanced disease and meta-analysis
[作者：Cheng, I; Plummer, SJ; Jorgenson, E; Liu, X; Rybicki, BA; Casey, G; Witte, JS,期刊：European Journal of Human Genetics, 页码：496-505 , 文章类型： Article，,卷期：2008年16-4]
- Compelling evidence demonstrates chromosome 8q24 as a prostate cancer susceptibility locus. Multiple variants within three adjacent regions at 8q24 have recently been identified to impact the risk of prostate cancer. Yet...
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