- Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype
[作者：Coenen, MJH; Tieleman, AA; Schijvenaars, MMVAP; Leferink, M; Ranum, LPW; Scheffer, H; van Engelen, BGM,期刊：European Journal of Human Genetics, 页码：567-570 , 文章类型： Article，,卷期：2011年19-5]
- Myotonic dystrophy type 2 (DM2) is a progressive multisystem disease with muscle weakness and myotonia as main characteristics. The disease is caused by a repeat expansion in the zinc-finger protein 9 (ZNF9) gene on chro...
- Mitochondrial analysis of a Byzantine population reveals the differential impact of multiple historical events in South Anatolia
[作者：Ottoni, C; Ricaut, FX; Vanderheyden, N; Brucato, N; Waelkens, M; Decorte, R,期刊：European Journal of Human Genetics, 页码：571-576 , 文章类型： Article，,卷期：2011年19-5]
- The archaeological site of Sagalassos is located in Southwest Turkey, in the western part of the Taurus mountain range. Human occupation of its territory is attested from the late 12th millennium BP up to the 13th centur...
- Epistasis between neurochemical gene polymorphisms and risk for ADHD
[作者：Segurado, R; Bellgrove, MA; Manconi, F; Gill, M; Hawi, Z,期刊：European Journal of Human Genetics, 页码：577-582 , 文章类型： Article，,卷期：2011年19-5]
- A number of genes with function related to synaptic neurochemistry have been genetically associated with attention deficit/hyperactivity disorder. However, susceptibility to the development of common psychiatric disorder...
- Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us?
[作者：Leutenegger, AL; Sahbatou, M; Gazal, S; Cann, H; Genin, E,期刊：European Journal of Human Genetics, 页码：583-587 , 文章类型： Article，,卷期：2011年19-5]
- Inbreeding coefficients and consanguineous mating types are usually inferred from population surveys or pedigree studies. Here, we present a method to estimate them from dense genome-wide single-nucleotide polymorphism g...
- Analysis of genetic deletions and duplications in the University College London bipolar disorder case control sample
[作者：McQuillin, A; Bass, N; Anjorin, A; Lawrence, J; Kandaswamy, R; Lydall, G; Moran, J; Sklar, P; Purcell, S; Gurling, H,期刊：European Journal of Human Genetics, 页码：588-592 , 文章类型： Article，,卷期：2011年19-5]
- Genetic deletions and duplications known as copy number variants have been strongly implicated in genetic susceptibility to schizophrenia, autism, attention deficit hyperactivity disorder and epilepsy. The overall rate o...
- Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population
[作者：Sorice, R; Bione, S; Sansanelli, S; Ulivi, S; Athanasakis, E; Lanzara, C; Nutile, T; Sala, C; Camaschella, C; D'Adamo, P; Gasparini, P; Ciullo, M; Toniolo, D,期刊：European Journal of Human Genetics, 页码：593-596 , 文章类型： Article，,卷期：2011年19-5]
- Large-scale population studies have established that genetic factors contribute to individual differences in smoking behavior. Linkage and genome-wide association studies have shown many chromosomal regions and genes ass...
- Homozygosity mapping in outbred families with mental retardation
[作者：Schuurs-Hoeijmakers, JHM; Hehir-Kwa, JY; Pfundt, R; van Bon, BWM; de Leeuw, N; Kleefstra, T; Willemsen, MA; van Kessel, AG; Brunner, HG; Veltman, JA; van Bokhoven, H; de Brouwer, APM; de Vries, BBA,期刊：European Journal of Human Genetics, 页码：597-601 , 文章类型： Article，,卷期：2011年19-5]
- Autosomal recessive mental retardation (AR-MR) may account for up to 25% of genetic mental retardation (MR). So far, mapping of AR-MR genes in consanguineous families has resulted in six nonsyndromic genes, whereas more ...
- Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia
[作者：Cognet, M; Nougayrede, A; Malan, V; Callier, P; Cretolle, C; Faivre, L; Genevieve, D; Goldenberg, A; Heron, D; Mercier, S; Philip, N; Sigaudy, S; Verloes, A; Sarnacki, S; Munnich, A; Vekemans, M; Lyonnet, S; Etchevers, H; Amiel, J; de Pontual, L,期刊：European Journal of Human Genetics, 页码：602-606 , 文章类型： Article，,卷期：2011年19-5]
- Feingold syndrome (FS) is a syndromic microcephaly entity for which MYCN is the major disease-causing gene. We studied the expression pattern of MYCN at different stages of human embryonic development and collected a ser...
- Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration
[作者：Janssens, ACJW; Ioannidis, JPA; Bedrosian, S; Boffetta, P; Dolan, SM; Dowling, N; Fortier, I; Freedman, AN; Grimshaw, JM; Gulcher, J; Gwinn, M; Hlatky, MA; Janes, H; Kraft, P; Melillo, S; O'Donnell, CJ; Pencina, MJ; Ransohoff, D; Schully, SD; Seminara, D; Winn, DM; Wright, CF; van Duijn, CM; Little, J; Khoury, MJ,期刊：European Journal of Human Genetics, 页码：731-731 , 文章类型： Article，,卷期：2011年19-5]
- The rapid and continuing progress in gene discovery for complex diseases is fueling interest in the potential application of genetic risk models for clinical and public health practice. The number of studies assessing th...
- Intellectual disability without epilepsy associated with STXBP1 disruption
[作者：Hamdan, FF; Gauthier, J; Dobrzeniecka, S; Lortie, A; Mottron, L; Vanasse, M; D'Anjou, G; Lacaille, JC; Rouleau, GA; Michaud, JL,期刊：European Journal of Human Genetics, 页码：607-609 , 文章类型： Article，,卷期：2011年19-5]
- STXBP1 (Munc18-1) is a component of the machinery involved in the fusion of secretory vesicles to the presynaptic membrane for the release of neurotransmitters. De novo missense mutations in STXBP1 were recently reported...
- The effect of genome-wide association scan quality control on imputation outcome for common variants
[作者：Southam, L; Panoutsopoulou, K; Rayner, NW; Chapman, K; Durrant, C; Ferreira, T; Arden, N; Carr, A; Deloukas, P; Doherty, M; Loughlin, J; McCaskie, A; Ollier, WER; Ralston, S; Spector, TD; Valdes, AM; Wallis, GA; Wilkinson, JM; Marchini, J; Zeggini, E,期刊：European Journal of Human Genetics, 页码：610-614 , 文章类型： Article，,卷期：2011年19-5]
- Imputation is an extremely valuable tool in conducting and synthesising genome-wide association studies (GWASs). Directly typed SNP quality control (QC) is thought to affect imputation quality. It is, therefore, common p...
- Breast and ovarian cancer screening of non-carriers from BRCA1/2 mutation-positive families: 2-year follow-up of cohorts from France and Quebec
[作者：Dorval, M; Nogues, C; Berthet, P; Chiquette, J; Gauthier-Villars, M; Lasset, C; Picard, C; Plante, M; Simard, J; Julian-Reynier, C,期刊：European Journal of Human Genetics, 页码：494-499 , 文章类型： Article，,卷期：2011年19-5]
- We described and compared breast and ovarian screening practices in the 2-year period following test result disclosure in female non-carriers from BRCA1/2 mutation-positive families living in two countries, France and Qu...
- Cancer risk management strategies and perceptions of unaffected women 5 years after predictive genetic testing for BRCA1/2 mutations
[作者：Julian-Reynier, C; Mancini, J; Mouret-Fourme, E; Gauthier-Villars, M; Bonadona, V; Berthet, P; Fricker, JP; Caron, O; Luporsi, E; Nogues, C,期刊：European Journal of Human Genetics, 页码：500-506 , 文章类型： Article，,卷期：2011年19-5]
- In a French national cohort of unaffected females carriers/non-carriers of a BRCA1/2 mutation, long-term preventive strategies and breast/ovarian cancer risk perceptions were followed up to 5 years after test result disc...
|