- Fabry or not Fabry - a question of ascertainment
[作者:Houge, G; Tondel, C; Kaarboe, O; Hirth, A; Bostad, L; Svarstad, E,期刊:European Journal of Human Genetics, 页码:1111-1112 , 文章类型: Letter,,卷期:2011年19-11]
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- Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene
[作者:Laccone, F; Schoner, K; Krabichler, B; Kluge, B; Schwerdtfeger, R; Schulze, B; Zschocke, J; Rehder, H,期刊:European Journal of Human Genetics, 页码:1133-1137 , 文章类型: Article,,卷期:2011年19-11]
- We report on three hydropic fetuses of 17, 22 and 25 gestational weeks from three distinct families presenting with Desbuquois dysplasia type 1. All fetuses showed brachymelia and characteristic dysmorphic features. X-ra...
- Analysis of H19 methylation in control and abnormal human embryos, sperm and oocytes
[作者:Ibala-Romdhane, S; Al-Khtib, M; Khoueiry, R; Blachere, T; Guerin, JF; Lefevre, A,期刊:European Journal of Human Genetics, 页码:1138-1143 , 文章类型: Article,,卷期:2011年19-11]
- ART is suspected to generate increased imprinting errors in the lineage. Following an intra cytoplasmic sperm injection (ICSI) procedure, a certain number of embryos fail to develop normally and imprinting disorders may ...
- 17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)
[作者:Armour, CM; Bulman, DE; Jarinova, O; Rogers, RC; Clarkson, KB; DuPont, BR; Dwivedi, A; Bartel, FO; McDonell, L; Schwartz, CE; Boycott, KM; Everman, DB; Graham, GE,期刊:European Journal of Human Genetics, 页码:1144-1151 , 文章类型: Article,,卷期:2011年19-11]
- Split-hand/foot malformation with long-bone deficiency (SHFLD) is a relatively rare autosomal-dominant skeletal disorder, characterized by variable expressivity and incomplete penetrance. Although several chromosomal loc...
- Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis
[作者:Feenstra, I; Hanemaaijer, N; Sikkema-Raddatz, B; Yntema, H; Dijkhuizen, T; Lugtenberg, D; Verheij, J; Green, A; Hordijk, R; Reardon, W; de Vries, B; Brunner, H; Bongers, E; de Leeuw, N; van Ravenswaaij-Arts, C,期刊:European Journal of Human Genetics, 页码:1152-1160 , 文章类型: Article,,卷期:2011年19-11]
- High-resolution genome-wide array analysis enables detailed screening for cryptic and submicroscopic imbalances of microscopically balanced de novo rearrangements in patients with developmental delay and/or congenital ab...
- Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity
[作者:Abou Jamra, R; Wohlfart, S; Zweier, M; Uebe, S; Priebe, L; Ekici, A; Giesebrecht, S; Abboud, A; Al Khateeb, MA; Fakher, M; Hamdan, S; Ismael, A; Muhammad, S; Nothen, MM; Schumacher, J; Reis, A,期刊:European Journal of Human Genetics, 页码:1161-1166 , 文章类型: Article,,卷期:2011年19-11]
- Non-specific intellectual disability of autosomal recessive inheritance (NS-ARID) represents an important fraction of severe cognitive dysfunction disorders. To date, only 10 genes have been identified, and further 24 li...
- Data-driven approach to detect common copy-number variations and frequency profiles in a population-based Korean cohort
[作者:Moon, S; Kim, YJ; Hong, CB; Kim, DJ; Lee, JY; Kim, BJ,期刊:European Journal of Human Genetics, 页码:1167-1172 , 文章类型: Article,,卷期:2011年19-11]
- To date, hundreds of thousands of copy-number variation (CNV) data have been reported using various platforms. The proportion of Asians in these data is, however, relatively small as compared with that of other ethnic gr...
- An atlas of tissue-specific conserved coexpression for functional annotation and disease gene prediction
[作者:Piro, RM; Ala, U; Molineris, I; Grassi, E; Bracco, C; Perego, GP; Provero, P; Di Cunto, F,期刊:European Journal of Human Genetics, 页码:1173-1180 , 文章类型: Article,,卷期:2011年19-11]
- Gene coexpression relationships that are phylogenetically conserved between human and mouse have been shown to provide important clues about gene function that can be efficiently used to identify promising candidate gene...
- The tRNA(Met) 4435A > G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree
[作者:Lu, ZQ; Chen, H; Meng, YZ; Wang, Y; Xue, L; Zhi, SC; Qiu, QM; Yang, L; Mo, JQ; Guan, MX,期刊:European Journal of Human Genetics, 页码:1181-1186 , 文章类型: Article,,卷期:2011年19-11]
- Mutations in mitochondrial DNA (mtDNA) have been associated with hypertension in several pedigrees with maternal inheritance. However, the pathophysiology of maternally inherited hypertension remains poorly understood. W...
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