- Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development
[作者：Wilson, HL; Crolla, JA; Walker, D; Artifoni, L; Dallapiccola, B; Takano, T; Vasudevan, P; Huang, SW; Maloney, V; Yobb, T; Quarrell, O; McDermid, HE,期刊：European Journal of Human Genetics, 页码：1301-1310 , 文章类型： Article，,卷期：2008年16-11]
- The severe mental retardation and speech deficits associated with 22q13 terminal deletions have been attributed in large part to haploinsufficiency of SHANK3, which maps to all 22q13 terminal deletions, although more pro...
- Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease
[作者：Filoni, C; Caciotti, A; Carraresi, L; Donati, MA; Mignani, R; Parini, R; Filocamo, M; Soliani, F; Simi, L; Guerrini, R; Zammarchi, E; Morrone, A,期刊：European Journal of Human Genetics, 页码：1311-1317 , 文章类型： Article，,卷期：2008年16-11]
- Total or partial deficiency of the human lysosomal hydrolase alpha-galactosidase A is responsible for Fabry disease, the X-linked inborn error of glycosphingolipid metabolism. Together with the predominant alpha-galactos...
- Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development
[作者：Lybaek, H; Meza-Zepeda, LA; Kresse, SH; Hoysaeter, T; Steen, VM; Houge, G,期刊：European Journal of Human Genetics, 页码：1318-1328 , 文章类型： Article，,卷期：2008年16-11]
- During a 6-year period, 590 patients suspected of having a minor or cryptic genomic imbalance as the cause of mental retardation with dysmorphic signs +/- malformations have been investigated with high-resolution compara...
- Health first, genetics second: exploring families' experiences of communicating genetic information
[作者：Forrest, LE; Curnow, L; Delatycki, MB; Skene, L; Aitken, M,期刊：European Journal of Human Genetics, 页码：1329-1335 , 文章类型： Article，,卷期：2008年16-11]
- Genetic information may have health and reproductive implications for the proband and their family members. The responsibility for communicating this information within families generally lies with the proband or consult...
- Twenty-year trends in prevalence and survival of Down syndrome
[作者：Irving, C; Basu, A; Richmond, S; Burn, J; Wren, C,期刊：European Journal of Human Genetics, 页码：1336-1340 , 文章类型： Article，,卷期：2008年16-11]
- The aims of this study were (1) to determine trends in total prevalence and live birth prevalence of Down syndrome, (2) to analyse trends in factors likely to influence this prevalence and (3) to determine 1-year surviva...
- Genetic origin of the Swedish Sami inferred from HLA class I and class II allele frequencies
[作者：Johansson, A; Ingman, M; Mack, SJ; Erlich, H; Gyllensten, U,期刊：European Journal of Human Genetics, 页码：1341-1349 , 文章类型： Article，,卷期：2008年16-11]
- Sami of northern Scandinavia are genetic outliers among European populations and their origin has been difficult to determine. In order to study the genetic origin of the Swedish Sami, we have performed high-resolution t...
- Identification of human haploinsufficient genes and their genomic proximity to segmental duplications
[作者：Dang, VT; Kassahn, KS; Marcos, AE; Ragan, MA,期刊：European Journal of Human Genetics, 页码：1350-1357 , 文章类型： Article，,卷期：2008年16-11]
- Despite the significance of haploinsufficiency in human disease, no systematic study has been reported into the types of genes that are haploinsufficient in human, or into the mechanisms that commonly lead to their delet...
- A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features
[作者：Rejeb, I; Saillour, Y; Castelnau, L; Julien, C; Bienvenu, T; Taga, P; Chaabouni, H; Chelly, J; Ben Jemaa, L; Bahi-Buisson, N,期刊：European Journal of Human Genetics, 页码：1358-1363 , 文章类型： Article，,卷期：2008年16-11]
- PAK3-related mental retardation represents a rare cause of X-linked mental retardation associated with behavioural symptoms. So far, four families carrying PAK3 mutations have been reported, and in most cases PAK3 dysfun...
- The copy number variant involving part of the alpha 7 nicotinic receptor gene contains a polymorphic inversion
[作者：Flomen, RH; Davies, AF; Di Forti, M; La Cascia, C; Mackie-Ogilvie, C; Murray, R; Makoff, AJ,期刊：European Journal of Human Genetics, 页码：1364-1371 , 文章类型： Article，,卷期：2008年16-11]
- The alpha 7 nicotinic acetylcholine receptor gene (CHRNA7) is located at 15q13-q14 in a region that is strongly linked to the P50 sensory gating deficit, an endophenotype of schizophrenia and bipolar disorder. Part of th...
- Genome-wide linkage analysis for identifying quantitative trait loci involved in the regulation of lipoprotein a (Lpa) levels
[作者：Lopez, S; Buil, A; Ordonez, J; Souto, JC; Almasy, L; Lathrop, M; Blangero, J; Blanco-Vaca, F; Fontcuberta, J; Soria, J,期刊：European Journal of Human Genetics, 页码：1372-1379 , 文章类型： Article，,卷期：2008年16-11]
- Lipoprotein Lp(a) levels are highly heritable and are associated with cardiovascular risk. We performed a genome-wide linkage analysis to delineate the genomic regions that influence the concentration of Lp(a) in familie...
- Comprehensive association analyses of IGF1, ESR2, and CYP17 genes with adult height in Caucasians
[作者：Yang, TL; Xiong, DH; Guo, Y; Recker, RR; Deng, HW,期刊：European Journal of Human Genetics, 页码：1380-1387 , 文章类型： Article，,卷期：2008年16-11]
- Human adult height is closely related to body growth that is regulated by multiple cytokines or hormones like growth hormone (GH) and estrogen. Our study focused on three potential candidate genes to human height, namely...
- Testing replication of a 5-SNP set for general cognitive ability in six population samples
[作者：Luciano, M; Lind, PA; Deary, IJ; Payton, A; Posthuma, D; Butcher, LM; Bochdanovits, Z; Whalley, LJ; Visscher, PM; Harris, SE; Polderman, TJC; Davis, OSP; Wright, MJ; Starr, JM; de Geus, EJC; Bates, TC; Montgomery, GW; Boomsma, DI; Martin, NG; Plomin, R,期刊：European Journal of Human Genetics, 页码：1388-1395 , 文章类型： Article，,卷期：2008年16-11]
- A 5-single nucleotide polymorphism (SNP) set has been associated with general cognitive ability in 5000 7-year-old children from the Twins Early Development Study (TEDS). Four of these SNPs were identified through a 10 K...
- The use of common mitochondrial variants to detect and characterise population structure in the Australian population: implications for genome-wide association studies
[作者：Byrne, EM; Mcrae, AF; Zhao, ZZ; Martin, NG; Montgomery, GW; Visscher, PM,期刊：European Journal of Human Genetics, 页码：1396-1403 , 文章类型： Article，,卷期：2008年16-11]
- There is an increasing recognition of the potential role of variants in mitochondrial DNA and nuclear-encoded mitochondrial proteins in modifying disease risk. This has led to a rise in the number of mitochondrial associ...
- Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres
[作者：van Gijn, ME; Soler, S; de la Chapelle, C; Mulder, M; Ritorre, C; Kriek, M; Philibert, L; van der Wielen, M; Frenkel, J; Grandemange, S; Bakker, E; van Amstel, JKP; Touitou, I,期刊：European Journal of Human Genetics, 页码：1404-1406 , 文章类型： Article，,卷期：2008年16-11]
- Familial mediterranean fever (FMF) is a hereditary autoinflammatory autosomal recessive disease caused by mutations in the MEFV gene. Despite the identification of many disease associated MEFV mutations, often the clinic...
- Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe
[作者：Verschuuren-Bemelmans, CC; Winter, P; Sival, DA; Elting, JW; Brouwer, OF; Muller, U,期刊：European Journal of Human Genetics, 页码：1407-1411 , 文章类型： Article，,卷期：2008年16-11]
- We describe a previously not recognized nonsense mutation in exon 10 of the ALS2 gene in two sibs with infantile-onset ascending spastic paralysis. The mutation predicts chain termination at amino-acid position 715 of th...
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