- Natural positive selection and north-south genetic diversity in East Asia
[作者:Suo, C; Xu, HY; Khor, CC; Ong, RTH; Sim, X; Chen, JM; Tay, WT; Sim, KS; Zeng, YX; Zhang, XJ; Liu, JJ; Tai, ES; Wong, TY; Chia, KS; Teo, YY,期刊:European Journal of Human Genetics, 页码:102-110 , 文章类型: Article,,卷期:2012年20-1]
- Recent reports have identified a north-south cline in genetic variation in East and South-East Asia, but these studies have not formally explored the basis of these clinical differences. Understanding the origins of thes...
- Brazilian urban population genetic structure reveals a high degree of admixture
[作者:Giolo, SR; Soler, JMP; Greenway, SC; Almeida, MAA; de Andrade, M; Seidman, JG; Seidman, CE; Krieger, JE; Pereira, AC,期刊:European Journal of Human Genetics, 页码:111-116 , 文章类型: Article,,卷期:2012年20-1]
- Advances in genotyping technologies have contributed to a better understanding of human population genetic structure and improved the analysis of association studies. To analyze patterns of human genetic variation in Bra...
- No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome
[作者:Boonen, SE; Hahnemann, JMD; Mackay, D; Tommerup, N; Brondum-Nielsen, K; Tumer, Z; Gronskov, K,期刊:European Journal of Human Genetics, 页码:119-121 , 文章类型: Article,,卷期:2012年20-1]
- Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome, which, in 50-60% of sporadic cases, is caused by hypomethylation of KCNQ1OT1 differentially methylated region (DMR) at chromosome 11p15.5. The underlying defec...
- Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome
[作者:Gray, MJ; Kim, CA; Bertola, DR; Arantes, PR; Stewart, H; Simpson, MA; Irving, MD; Robertson, SP,期刊:European Journal of Human Genetics, 页码:122-124 , 文章类型: Article,,卷期:2012年20-1]
- Serpentine fibula polycystic kidney syndrome (SFPKS; MIM600330) is a rare skeletal dysplasia that has polycystic kidneys and dysmorphic facies as additional defining phenotypic components. The nosological classification ...
- Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature
[作者:Benito-Sanz, S; Aza-Carmona, M; Rodriguez-Estevez, A; Rica-Etxebarria, I; Gracia, R; Campos-Barros, A; Heath, KE,期刊:European Journal of Human Genetics, 页码:125-127 , 文章类型: Article,,卷期:2012年20-1]
- Short stature homeobox-containing gene, MIM 312865 (SHOX) is located within the pseudoautosomal region 1 (PAR1) of the sex chromosomes. Mutations in SHOX or its downstream transcriptional regulatory elements represent th...
- Clinical utility gene card for: multiple endocrine neoplasia type 2
[作者:Raue, F; Rondot, S; Schulze, E; Szpak-Ulczok, S; Jarzab, B; Frank-Raue, K,期刊:European Journal of Human Genetics, 页码:249-249 , 文章类型: Editorial Material,,卷期:2012年20-1]
-
|