- Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency
[作者:Jacquemont, S; Birnbaum, S; Redler, S; Steinbach, P; Biancalana, V,期刊:European Journal of Human Genetics, 页码:935-941 , 文章类型: Editorial Material,,卷期:2011年19-9]
-
- Clinical presentation and mutations in Danish patients with Wilson disease
[作者:Moller, LB; Horn, N; Jeppesen, TD; Vissing, J; Wibrand, F; Jennum, P; Ott, P,期刊:European Journal of Human Genetics, 页码:935-941 , 文章类型: Article,,卷期:2011年19-9]
- This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estima...
- The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter
[作者:Zolotushko, J; Flusser, H; Markus, B; Shelef, I; Langer, Y; Heverin, M; Bjorkhem, I; Sivan, S; Birk, OS,期刊:European Journal of Human Genetics, 页码:942-946 , 文章类型: Article,,卷期:2011年19-9]
- Desmosterolosis is a rare autosomal recessive disorder of elevated levels of the cholesterol precursor desmosterol in plasma, tissue and cultured cells. With only two sporadic cases described to date with two very differ...
- Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions
[作者:Mitter, D; Ullmann, R; Muradyan, A; Klein-Hitpass, L; Kanber, D; Ounap, K; Kaulisch, M; Lohmann, D,期刊:European Journal of Human Genetics, 页码:947-958 , 文章类型: Article,,卷期:2011年19-9]
- Patients with an interstitial 13q deletion that contains the RB1 gene show retinoblastoma and variable clinical features. Relationship between phenotypic expression and loss of specific neighboring genes are unresolved, ...
- Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11
[作者:Wentzel, C; Rajcan-Separovic, E; Ruivenkamp, CAL; Chantot-Bastaraud, S; Metay, C; Andrieux, J; Anneren, G; Gijsbers, ACJ; Druart, L; Hyon, C; Portnoi, MF; Stattin, EL; Vincent-Delorme, C; Kant, SG; Steinraths, M; Marlin, S; Giurgea, I; Thuresson, AC,期刊:European Journal of Human Genetics, 页码:959-964 , 文章类型: Article,,卷期:2011年19-9]
- With the clinical implementation of genomic microarrays, the detection of cryptic unbalanced rearrangements in patients with syndromic developmental delay has improved considerably. Here we report the molecular karyotypi...
- The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein
[作者:de Beeck, KO; Van Camp, G; Thys, S; Cools, N; Callebaut, I; Vrijens, K; Van Nassauw, L; Van Tendeloo, VF; Timmermans, JP; Van Laer, L,期刊:European Journal of Human Genetics, 页码:965-973 , 文章类型: Article,,卷期:2011年19-9]
- DFNA5 was first identified as a gene causing autosomal dominant hearing loss (HL). Different mutations have been found, all exerting a highly specific gain-of-function effect, in which skipping of exon 8 causes the HL. L...
- Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations
[作者:Cacciottolo, M; Numitone, G; Aurino, S; Caserta, IR; Fanin, M; Politano, L; Minetti, C; Ricci, E; Piluso, G; Angelini, C; Nigro, V,期刊:European Journal of Human Genetics, 页码:974-980 , 文章类型: Article,,卷期:2011年19-9]
- Dysferlin is a 237-kDa transmembrane protein involved in calcium-mediated sarcolemma resealing. Dysferlin gene mutations cause limb-girdle muscular dystrophy (LGMD) 2B, Miyoshi myopathy (MM) and distal myopathy of the an...
- Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families
[作者:Fiore, M; Pillois, X; Nurden, P; Nurden, AT; Austerlitz, F,期刊:European Journal of Human Genetics, 页码:981-987 , 文章类型: Article,,卷期:2011年19-9]
- The c.1544+1G>A substitution at the 5' splice donor site of intron 15 of the ITGA2B gene, called the French Gypsy mutation, causes Glanzmann thrombasthenia, an inherited hemorrhagic disorder transmitted as an autosomal r...
- High-throughput sequencing of complete human mtDNA genomes from the Caucasus and West Asia: high diversity and demographic inferences
[作者:Schonberg, A; Theunert, C; Li, MK; Stoneking, M; Nasidze, I,期刊:European Journal of Human Genetics, 页码:988-994 , 文章类型: Article,,卷期:2011年19-9]
- To investigate the demographic history of human populations from the Caucasus and surrounding regions, we used high-throughput sequencing to generate 147 complete mtDNA genome sequences from random samples of individuals...
- Genetic variation in the Sorbs of eastern Germany in the context of broader European genetic diversity
[作者:Veeramah, KR; Tonjes, A; Kovacs, P; Gross, A; Wegmann, D; Geary, P; Gasperikova, D; Klimes, I; Scholz, M; Novembre, J; Stumvoll, M,期刊:European Journal of Human Genetics, 页码:995-1001 , 文章类型: Article,,卷期:2011年19-9]
- Population isolates have long been of interest to genetic epidemiologists because of their potential to increase power to detect disease-causing genetic variants. The Sorbs of Germany are considered as cultural and lingu...
- Worldwide spatial genetic structure of angiotensin-converting enzyme gene: a new evolutionary ecological evidence for the thrifty genotype hypothesis
[作者:Li, X; Sun, XB; Jin, L; Xue, FZ,期刊:European Journal of Human Genetics, 页码:1002-1008 , 文章类型: Article,,卷期:2011年19-9]
- As JV Neel put forward the 'thrifty genotype' hypothesis, many researches tend to support this hypothesis involved in the regulation of energy balance. However, the phrase could equally well encapsulate broader traits an...
- Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism
[作者:van Veghel-Plandsoen, MM; Wouters, CH; Kromosoeto, JNR; den Ridder-Klunnen, MC; Halley, DJJ; van den Ouweland, AMW,期刊:European Journal of Human Genetics, 页码:1009-1012 , 文章类型: Article,,卷期:2011年19-9]
- 'Apparent non-penetrance' occurs in several genetic disorders, including tuberous sclerosis complex and neurofibromatosis type 1: clinically unaffected parents may have multiple affected offspring. Germ line or somatic m...
|