- Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe
[作者:Wellesley, D; Dolk, H; Boyd, PA; Greenlees, R; Haeusler, M; Nelen, V; Garne, E; Khoshnood, B; Doray, B; Rissmann, A; Mullaney, C; Calzolari, E; Bakker, M; Salvador, J; Addor, MC; Draper, E; Rankin, J; Tucker, D,期刊:European Journal of Human Genetics, 页码:521-526 , 文章类型: Article,,卷期:2012年20-5]
- The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the Eu...
- Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies
[作者:Delahaye, A; Bitoun, P; Drunat, S; Gerard-Blanluet, M; Chassaing, N; Toutain, A; Verloes, A; Gatelais, F; Legendre, M; Faivre, L; Passemard, S; Aboura, A; Kaltenbach, S; Quentin, S; Dupont, C; Tabet, AC; Amselem, S; Elion, J; Gressens, P; Pipiras, E; Benzacken, B,期刊:European Journal of Human Genetics, 页码:527-533 , 文章类型: Article,,卷期:2012年20-5]
- In 65 patients, who had unexplained ocular developmental anomalies (ODAs) with at least one other birth defect and/or intellectual disability, we performed oligonucleotide comparative genome hybridisation-based microarra...
- 17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations
[作者:Vergult, S; Dauber, A; Delle Chiaie, B; Van Oudenhove, E; Simon, M; Rihani, A; Loeys, B; Hirschhorn, J; Pfotenhauer, J; Phillips, JA; Mohammed, S; Ogilvie, C; Crolla, J; Mortier, G; Menten, B,期刊:European Journal of Human Genetics, 页码:534-539 , 文章类型: Article,,卷期:2012年20-5]
- Although microdeletions of the long arm of chromosome 17 are being reported with increasing frequency, deletions of chromosome band 17q24.2 are rare. Here we report four patients with a microdeletion encompassing chromos...
- Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother
[作者:Tabet, AC; Pilorge, M; Delorme, R; Amsellem, F; Pinard, JM; Leboyer, M; Verloes, A; Benzacken, B; Betancur, C,期刊:European Journal of Human Genetics, 页码:540-546 , 文章类型: Article,,卷期:2012年20-5]
- The pericentromeric region of chromosome 16p is rich in segmental duplications that predispose to rearrangements through non-allelic homologous recombination. Several recurrent copy number variations have been described ...
- Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations
[作者:Richards, AJ; McNinch, A; Whittaker, J; Treacy, B; Oakhill, K; Poulson, A; Snead, MP,期刊:European Journal of Human Genetics, 页码:552-558 , 文章类型: Article,,卷期:2012年20-5]
- UK NHS diagnostic service sequence analysis of genes generally examines and reports on variations within a designated region 5' and 3' of each exon, typically 30 bp up and downstream. However, because of the degenerate n...
- Polymorphisms in the P2X7 receptor gene are associated with low lumbar spine bone mineral density and accelerated bone loss in post-menopausal women
[作者:Gartland, A; Skarratt, KK; Hocking, LJ; Parsons, C; Stokes, L; Jorgensen, NR; Fraser, WD; Reid, DM; Gallagher, JA; Wiley, JS,期刊:European Journal of Human Genetics, 页码:559-564 , 文章类型: Article,,卷期:2012年20-5]
- The P2X7 receptor gene (P2RX7) is highly polymorphic with five previously described loss-of-function (LOF) single-nucleotide polymorphisms (SNP; c.151+1G>T, c.946G>A, c.1096C>G, c.1513A>C and c.1729T>A) and one gain-of-f...
- Use of the gamma method for self-contained gene-set analysis of SNP data
[作者:Biernacka, JM; Jenkins, GD; Wang, LW; Moyer, AM; Fridley, BL,期刊:European Journal of Human Genetics, 页码:565-571 , 文章类型: Article,,卷期:2012年20-5]
- Gene-set analysis (GSA) evaluates the overall evidence of association between a phenotype and all genotyped single nucleotide polymorphisms (SNPs) in a set of genes, as opposed to testing for association between a phenot...
- How to deal with the early GWAS data when imputing and combining different arrays is necessary
[作者:Uh, HW; Deelen, J; Beekman, M; Helmer, Q; Rivadeneira, F; Hottenga, JJ; Boomsma, DI; Hofman, A; Uitterlinden, AG; Slagboom, PE; Bohringer, S; Houwing-Duistermaat, JJ,期刊:European Journal of Human Genetics, 页码:572-576 , 文章类型: Article,,卷期:2012年20-5]
- Genotype imputation has become an essential tool in the analysis of genome-wide association scans. This technique allows investigators to test association at ungenotyped genetic markers, and to combine results across stu...
- Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated
[作者:Harinck, F; Kluijt, I; van Mil, SE; Waisfisz, Q; van Os, TAM; Aalfs, CM; Wagner, A; Olderode-Berends, M; Sijmons, RH; Kuipers, EJ; Poley, JW; Fockens, P; Bruno, MJ,期刊:European Journal of Human Genetics, 页码:577-579 , 文章类型: Article,,卷期:2012年20-5]
- PALB2-mutation carriers not only have an increased risk for breast cancer (BC) but also for pancreatic cancer (PC). Thus far, PALB2 mutations have been mainly found in PC patients from families affected by both PC and BC...
- Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay
[作者:Amouroux, C; Vincent, M; Blanchet, P; Puechberty, J; Schneider, A; Chaze, AM; Girard, M; Tournaire, M; Jorgensen, C; Morin, D; Sarda, P; Lefort, G; Genevieve, D,期刊:European Journal of Human Genetics, 页码:580-583 , 文章类型: Article,,卷期:2012年20-5]
- Duane retraction syndrome (DRS) is a rare congenital strabismus condition with genetic heterogeneity. DRS associated with intellectual disability or developmental delay is observed in several genetic diseases: syndromes ...
- Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes
[作者:Leger, S; Balguerie, X; Goldenberg, A; Drouin-Garraud, V; Cabot, A; Amstutz-Montadert, I; Young, P; Joly, P; Bodereau, V; Holder-Espinasse, M; Jamieson, RV; Krause, A; Chen, HS; Baumann, C; Nunes, L; Dollfus, H; Goossens, M; Pingault, V,期刊:European Journal of Human Genetics, 页码:584-587 , 文章类型: Article,,卷期:2012年20-5]
- The microphthalmia-associated transcription factor (MITF) is a basic helix-loop-helix leucine zipper transcription factor, which regulates melanocyte development and the biosynthetic melanin pathway. A notable relationsh...
- Homozygous SMN2 deletion is a protective factor in the Swedish ALS population
[作者:Corcia, P; Ingre, C; Blasco, H; Press, R; Praline, J; Antar, C; Veyrat-Durebex, C; Guettard, YO; Camu, W; Andersen, PM; Vourc'h, P; Andres, CR,期刊:European Journal of Human Genetics, 页码:588-591 , 文章类型: Article,,卷期:2012年20-5]
- Abnormal survival motor neuron 1 (SMN1)-copy number has been associated with an increased risk of amyotrophic lateral sclerosis (ALS) in French and Dutch population studies. The aim of this study was to determine whether...
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