- Fragile X syndrome
[作者：Garber, KB; Visootsak, J; Warren, ST,期刊：European Journal of Human Genetics, 页码：666-672 , 文章类型： Article，,卷期：2008年16-6]
- Fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is associated with intellectual and emotional disabilities ranging from learning problems to mental retardation, and mood instability to autism. ...
- Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia
[作者：van der Hout, AH; Oudesluijs, GG; Venema, A; Verheij, JBGM; Mol, BGJ; Rump, P; Brunner, HG; Vos, YJ; van Essen, AJ,期刊：European Journal of Human Genetics, 页码：673-679 , 文章类型： Article，,卷期：2008年16-6]
- Hypohidrotic ectodermal dysplasia (HED) can be caused by mutations in the X-linked ectodysplasin A (ED1) gene or the autosomal ectodysplasin A-receptor (EDAR) and EDAR-associated death domain (EDARADD) genes. X-linked an...
- Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia
[作者：Schneider, A; Benzacken, B; Guichet, A; Verloes, A; Bonneau, D; Collot, N; Dastot-Le-Moal, F; Goossens, M; Taine, L; Landais, E; Gaillard, D; Doco-Fenzy, M,期刊：European Journal of Human Genetics, 页码：680-687 , 文章类型： Article，,卷期：2008年16-6]
- Among previously reported cases of 14q terminal deletions, only 11 have dealt with pure terminal deletion of 14q (14q3-14qter) and the break points were mapped by fluorescent in situ hybridisation (FISH) or genotyping in...
- Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q
[作者：Geremek, M; Schoenmaker, F; Zietkiewicz, E; Pogorzelski, A; Diehl, S; Wijmenga, C; Witt, M,期刊：European Journal of Human Genetics, 页码：688-695 , 文章类型： Article，,卷期：2008年16-6]
- Primary ciliary dyskinesia (PCD) is a rare genetic disorder, which shows extensive genetic heterogeneity and is mostly inherited in an autosomal recessive fashion. There are four genes with a proven pathogenetic role in ...
- Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area
[作者：Floris, C; Rassu, S; Boccone, L; Gasperini, D; Cao, A; Crisponi, L,期刊：European Journal of Human Genetics, 页码：696-704 , 文章类型： Article，,卷期：2008年16-6]
- Recent studies estimated a rate of 3-5% of cytogenetic abnormalities involving many different chromosomes in autistic spectrum disorders (ASDs). Here, we report on two unrelated male patients with de novo translocations,...
- A spatial analysis of genetic structure of human populations in China reveals distinct difference between maternal and paternal lineages
[作者：Xue, FH; Wang, Y; Xu, SH; Zhang, F; Wen, B; Wu, XS; Lu, M; Deka, R; Qian, J; Jin, L,期刊：European Journal of Human Genetics, 页码：705-717 , 文章类型： Article，,卷期：2008年16-6]
- Analyses of archeological, anatomical, linguistic, and genetic data suggested consistently the presence of a significant boundary between the populations of north and south in China. However, the exact location and the s...
- Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients
[作者：Lesca, G; Genin, E; Blachier, C; Olivieri, C; Coulet, F; Brunet, G; Dupuis-Girod, S; Buscarini, E; Soubrier, F; Calender, A; Danesino, C; Giraud, S; Plauchu, H,期刊：European Journal of Human Genetics, 页码：742-749 , 文章类型： Article，,卷期：2008年16-6]
- Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease characterized by widespread arteriovenous malformations and caused by mutations in two major genes: ENG and ACVRL1. Two decades ago, a French e...
- Homozygosity mapping in a family presenting with schizophrenia, epilepsy and hearing impairment
[作者：Knight, HM; Maclean, A; Irfan, M; Naeem, F; Cass, S; Pickard, BS; Muir, WJ; Blackwood, DHR; Ayub, M,期刊：European Journal of Human Genetics, 页码：750-758 , 文章类型： Article，,卷期：2008年16-6]
- Homozygosity mapping within consanguineous families is a powerful method of localising genes for autosomal recessive disease. We investigated a family from Punjab, Pakistan, a region where consanguineous marriages are fr...
- Potential association of INSIG2 rs7566605 polymorphism with body weight in a Chinese subpopulation
[作者：Yang, L; Wu, Y; Li, HX; Yu, ZJ; Li, X; Liu, Y; Lin, X; Chen, Y,期刊：European Journal of Human Genetics, 页码：759-761 , 文章类型： Article，,卷期：2008年16-6]
- Herbert et al reported association with obesity of a common DNA variant rs7566605 at 10 kb upstream of the INSIG2 gene. We analyzed rs7566605 polymorphism in 3125 Chinese in a cross-sectional study. We found no significa...
- Genetic ancestry and income are associated with dengue hemorrhagic fever in a highly admixed population
[作者：Blanton, RE; Silva, LK; Morato, VG; Parrado, AR; Dias, JP; Melo, PRS; Reis, EAG; Goddard, KAB; Nunes, MRT; Rodrigues, SG; Vasconcelos, PFC; Castro, JM; Reis, MG; Barreto, ML; Teixeira, MG,期刊：European Journal of Human Genetics, 页码：762-765 , 文章类型： Article，,卷期：2008年16-6]
- To test whether African ancestry is protective for severe dengue, we genotyped 49 hospitalized cases of dengue hemorrhagic fever (DHF) as well as 293 neighborhood cases of dengue fever and 294 asymptomatic controls in Sa...
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