- Risk-reducing surgery for ovarian cancer: outcomes in 300 surgeries suggest a low peritoneal primary risk
[作者:Evans, DGR; Clayton, R; Donnai, P; Shenton, A; Lalloo, F,期刊:European Journal of Human Genetics, 页码:1381-1385 , 文章类型: Article,,卷期:2009年17-11]
- Risk-reducing salpingo-oophorectomy is currently advocated for the reduction of both breast and ovarian cancer risk in BRCA1/2 carriers, but residual risk of peritoneal primary cancer remains a concern. A sequential seri...
- A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first
[作者:Gijsbers, ACJ; Lew, JYK; Bosch, CAJ; Schuurs-Hoeijmakers, JHM; van Haeringen, A; den Hollander, NS; Kant, SG; Bijlsma, EK; Breuning, MH; Bakker, E; Ruivenkamp, CAL,期刊:European Journal of Human Genetics, 页码:1394-1402 , 文章类型: Article,,卷期:2009年17-11]
- High-density single-nucleotide polymorphism (SNP) genotyping technology enables extensive genotyping as well as the detection of increasingly smaller chromosomal aberrations. In this study, we assess molecular karyotypin...
- Preimplantation genetic diagnosis for myotonic dystrophy type 1: upon request to child
[作者:De Rademaeker, M; Verpoest, W; De Rycke, M; Seneca, S; Sermon, K; Desmyttere, S; Bonduelle, M; Van der Elst, J; Devroey, P; Liebaers, I,期刊:European Journal of Human Genetics, 页码:1403-1410 , 文章类型: Article,,卷期:2009年17-11]
- Preimplantation genetic diagnosis (PGD) is an alternative to prenatal diagnosis for patients at risk of transmitting an inherited disease such as myotonic dystrophy type 1(DM1) to their offspring. In this paper, the clin...
- Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome
[作者:Plancke, A; Holder-Espinasse, M; Rigau, V; Manouvrier, S; Claustres, M; Van Kien, PK,期刊:European Journal of Human Genetics, 页码:1411-1416 , 文章类型: Article,,卷期:2009年17-11]
- So far, mutations in the human COL3A1 gene have been associated with the predominantly inherited Ehlers-Danlos syndrome (EDS), vascular type. Genotype-phenotype correlation perspectives collapsed, as haploinsufficiency, ...
- Novel SOX2 partner-factor domain mutation in a four-generation family
[作者:Mihelec, M; Abraham, P; Gibson, K; Krowka, R; Susman, R; Storen, R; Chen, YJ; Donald, J; Tam, PPL; Grigg, JR; Flaherty, M; Gole, GA; Jamieson, RV,期刊:European Journal of Human Genetics, 页码:1417-1422 , 文章类型: Article,,卷期:2009年17-11]
- Anophthalmia (no eye), microphthalmia (small eye) and associated ocular developmental anomalies cause significant visual handicap. In most cases the underlying genetic cause is unknown, but mutations in some genes, such ...
- Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart
[作者:Gill, HK; Parsons, SR; Spalluto, C; Davies, AF; Knorz, VJ; Burlinson, CEG; Ng, BL; Carter, NP; Ogilvie, CM; Wilson, DI; Roberts, RG,期刊:European Journal of Human Genetics, 页码:1423-1431 , 文章类型: Article,,卷期:2009年17-11]
- Hypoplastic left heart (HLH) occurs in at least 1 in 10 000 live births but may be more common in utero. Its causes are poorly understood but a number of affected cases are associated with chromosomal abnormalities. We s...
- Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism
[作者:van Silfhout, AT; van den Akker, PC; Dijkhuizen, T; Verheij, JBGM; Olderode-Berends, MJW; Kok, K; Sikkema-Raddatz, B; van Ravenswaaij-Arts, CMA,期刊:European Journal of Human Genetics, 页码:1432-1438 , 文章类型: Article,,卷期:2009年17-11]
- We report on three patients with split hand/foot malformation type 1 (SHFM1). We detected a deletion in two patients and an inversion in the third, all involving chromosome 7q21q22. We performed conventional chromosomal ...
- Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA
[作者:Barbaro, M; Balsamo, A; Anderlid, BM; Myhre, AG; Gennari, M; Nicoletti, A; Pittalis, MC; Oscarson, M; Wedell, A,期刊:European Journal of Human Genetics, 页码:1439-1447 , 文章类型: Article,,卷期:2009年17-11]
- The distal region on the short arm of chromosome 9 is of special interest for scientists interested in sex development as well as in the clinical phenotype of patients with the 9p deletion syndrome, characterized by ment...
- Phosphodiesterase 4D and 5-lipoxygenase activating protein genes and risk of ischemic stroke in Sardinians
[作者:Quarta, G; Stanzione, R; Evangelista, A; Zanda, B; Di Angelantonio, E; Marchitti, S; Di Castro, S; Di Vavo, M; Volpe, M; Rubattu, S,期刊:European Journal of Human Genetics, 页码:1448-1453 , 文章类型: Article,,卷期:2009年17-11]
- Genetic factors contribute to the risk of ischemic stroke (IS). The phosphodiesterase-4D (PDE4D) and the 5-lipoxygenase activating protein (ALOX5AP) genes were identified as contributors to stroke in an Icelandic populat...
- A critical assessment of the factors affecting reporter gene assays for promoter SNP function: a reassessment of-308 TNF polymorphism function using a novel integrated reporter system
[作者:Karimi, M; Goldie, LC; Cruickshank, MN; Moses, EK; Abraham, LJ,期刊:European Journal of Human Genetics, 页码:1454-1462 , 文章类型: Article,,卷期:2009年17-11]
- One of the greatest challenges facing genetics is the development of strategies to identify functionally relevant genetic variation. The most common test of function is the reporter gene assay, in which allelic regulator...
- Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis
[作者:Wawrzik, M; Spiess, AN; Herrmann, R; Buiting, K; Horsthemke, B,期刊:European Journal of Human Genetics, 页码:1463-1470 , 文章类型: Article,,卷期:2009年17-11]
- The imprinted domain in human 15q11-q13 is controlled by a bipartite imprinting centre (IC), which overlaps the 50 part of the paternally expressed SNURF-SNRPN gene. We have recently described two novel genes upstream of...
- Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study
[作者:Caux-Moncoutier, V; Pages-Berhouet, S; Michaux, D; Asselain, B; Castera, L; De Pauw, A; Buecher, B; Gauthier-Villars, M; Stoppa-Lyonnet, D; Houdayer, C,期刊:European Journal of Human Genetics, 页码:1471-1480 , 文章类型: Article,,卷期:2009年17-11]
- Nearly one-half of BRCA1 and BRCA2 sequence variations are variants of uncertain significance (VUSs) and are candidates for splice alterations for example, by disrupting/creating splice sites. As out-of-frame splicing de...
- Functional identification of the promoter of SLC4A5, a gene associated with cardiovascular and metabolic phenotypes in the HERITAGE Family Study
[作者:Stutz, AM; Teran-Garcia, M; Rao, DC; Rice, T; Bouchard, C; Rankinen, T,期刊:European Journal of Human Genetics, 页码:1481-1489 , 文章类型: Article,,卷期:2009年17-11]
- The sodium bicarbonate cotransporter gene SLC4A5, associated earlier with cardiovascular phenotypes, was tested for associations in the HERITAGE Family Study, and possible mechanisms were investigated. Twelve tag-single ...
- Isolated populations as treasure troves in genetic epidemiology: the case of the Basques
[作者:Garagnani, P; Laayouni, H; Gonzalez-Neira, A; Sikora, M; Luiselli, D; Bertranpetit, J; Calafell, F,期刊:European Journal of Human Genetics, 页码:1490-1494 , 文章类型: Article,,卷期:2009年17-11]
- The Basques are a culturally isolated population, living across the western border between France and Spain and speaking a non-Indo-European language. They show outlier allele frequencies in the ABO, RH, and HLA loci. To...
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