- A missense mutation in ALDH18A1, encoding Delta(1)-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome
[作者:Bicknell, LS; Pitt, J; Aftimos, S; Ramadas, R; Maw, MA; Robertson, SP,期刊:European Journal of Human Genetics, 页码:1176-1186 , 文章类型: Article,,卷期:2008年16-10]
- There are several rare syndromes combining wrinkled, redundant skin and neurological abnormalities. Although phenotypic overlap between conditions has suggested that some might be allelic to one another, the aetiology fo...
- Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism
[作者:Castermans, D; Thienpont, B; Volders, K; Crepel, A; Vermeesch, JR; Schrander-Stumpel, CT; Van de Ven, WJM; Steyaert, JG; Creemers, JWM; Devriendt, K,期刊:European Journal of Human Genetics, 页码:1187-1192 , 文章类型: Article,,卷期:2008年16-10]
- We describe an individual with autism and a coloboma of the eye carrying a mosaicism for a ring chromosome consisting of an inverted duplication of proximal chromosome 14. Of interest, the ring formation was associated w...
- Family communication between children and their parents about inherited genetic conditions: a meta-synthesis of the research
[作者:Metcalfe, A; Coad, J; Plumridge, GM; Gill, P; Farndon, P,期刊:European Journal of Human Genetics, 页码:1193-1200 , 文章类型: Article,,卷期:2008年16-10]
- In families affected by an inherited genetic condition, parents face a difficult task of having to communicate genetic risk information to their children. A systematic review of all major health and medical research data...
- Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy
[作者:Christiaans, I; Birnie, E; Bonsel, GJ; Wilde, AAM; van Langen, IM,期刊:European Journal of Human Genetics, 页码:1201-1207 , 文章类型: Article,,卷期:2008年16-10]
- Hypertrophic cardiomyopathy is a common autosomal dominant disease, associated with heart failure and arrhythmias predisposing to sudden cardiac death. After the detection of the causal mutation in the proband predictive...
- Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives
[作者:Rantanen, E; Hietala, M; Kristoffersson, U; Nippert, I; Schmidtke, J; Sequeiros, J; Kaariainen, H,期刊:European Journal of Human Genetics, 页码:1208-1216 , 文章类型: Article,,卷期:2008年16-10]
- The aim of this article is to review the national regulations and practices of genetic counselling in 38 European countries, and to examine how well they intersect the ideals of genetic counselling defined in internation...
- Frequent mutations in the 3 '-untranslated region of IFNGR1 lack functional impairment in microsatellite-unstable colorectal tumours
[作者:Dierssen, JWF; van Puijenbroek, M; Dezentje, DA; Fleuren, GJ; Cornelisse, CJ; van Wezel, T; Offringa, R; Morreau, H,期刊:European Journal of Human Genetics, 页码:1235-1239 , 文章类型: Article,,卷期:2008年16-10]
- Microsatellite repeats are frequently found to be mutated in microsatellite-instable colorectal tumours. This suggests that these mutations are important events during tumour development. We have observed frequent mutati...
- Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man
[作者:Bongers, EMHF; de Wijs, IJ; Marcelis, C; Hoefsloot, LH; Knoers, NVAM,期刊:European Journal of Human Genetics, 页码:1240-1244 , 文章类型: Article,,卷期:2008年16-10]
- Heterozygous mutations in the LMX1B gene cause nail patella syndrome (NPS) that is associated with nail and skeletal malformations, nephropathy, and glaucoma. Previous phenotype studies of Lmx1b null mice revealed dorsal...
- A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex
[作者:Horvath, A; Giatzakis, C; Tsang, K; Greene, E; Osorio, P; Boikos, S; Libe, R; Patronas, Y; Robinson-White, A; Remmers, E; Bertherat, J; Nesterova, M; Stratakis, CA,期刊:European Journal of Human Genetics, 页码:1245-1253 , 文章类型: Article,,卷期:2008年16-10]
- Bilateral adrenocortical hyperplasia (BAH) is the second most common cause of corticotropin-independent Cushing syndrome (CS). Genetic forms of BAH have been associated with complex syndromes such as Carney Complex and M...
- Northwest Siberian Khanty and Mansi in the junction of West and East Eurasian gene pools as revealed by uniparental markers
[作者:Pimenoff, VN; Comas, D; Palo, JU; Vershubsky, G; Kozlov, A; Sajantila, A,期刊:European Journal of Human Genetics, 页码:1254-1264 , 文章类型: Article,,卷期:2008年16-10]
- Northwest Siberia is geographically remote territory, which has been settled by indigenous human populations probably since the Upper Paleolithic. To investigate the genetic landscape of Northwest Siberians, we have anal...
- A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?
[作者:Swalwell, H; Blakely, EL; Sutton, R; Tonska, K; Elstner, M; He, L; Taivassalo, T; Burns, DK; Turnbull, DM; Haller, RG; Davidson, MM; Taylor, RW,期刊:European Journal of Human Genetics, 页码:1265-1274 , 文章类型: Article,,卷期:2008年16-10]
- Mutations in mitochondrial tRNA (mt-tRNA) genes are well recognized as a common cause of human disease, exhibiting a significant degree of clinical heterogeneity. While these differences are explicable, in part, by diffe...
- Confirmation of the genetic association between the U2AF homology motif (UHM) kinase 1 (UHMK1) gene and schizophrenia on chromosome 1q23.3
[作者:Puri, V; McQuillin, A; Datta, S; Choudhury, K; Pimm, J; Thirumalai, S; Krasucki, R; Lawrence, J; Quested, D; Bass, N; Crombie, C; Fraser, G; Walker, N; Moorey, H; Ray, MK; Sule, A; Curtis, D; Clair, DS; Gurling, H,期刊:European Journal of Human Genetics, 页码:1275-1282 , 文章类型: Article,,卷期:2008年16-10]
- UHMK1 has previously been implicated as a susceptibility gene for schizophrenia in the 1q23.3 region by significant evidence of allelic and haplotypic association between schizophrenia and several genetic markers at UHMK...
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