- No evidence of association between complement factor I genetic variant rs10033900 and age-related macular degeneration
[作者：Cipriani, V; Matharu, BK; Khan, JC; Shahid, H; Hayward, C; Wright, AF; Armbrecht, AM; Dhillon, B; Harding, SP; Bishop, PN; Bunce, C; Clayton, DG; Moore, AT; Yates, JRW,期刊：European Journal of Human Genetics, 页码：1-2 , 文章类型： Letter，,卷期：2012年20-1]
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- Reply to Cipriani et al
[作者：Fagerness, JA; Yu, Y; Maller, JB; Neale, BM; Reynolds, RC; Daly, MJ; Seddon, JM,期刊：European Journal of Human Genetics, 页码：3-3 , 文章类型： Letter，,卷期：2012年20-1]
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- Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis
[作者：Ormondroyd, E; Donnelly, L; Moynihan, C; Savona, C; Bancroft, E; Evans, DG; Eeles, RA; Lavery, S; Watson, M,期刊：European Journal of Human Genetics, 页码：4-10 , 文章类型： Article，,卷期：2012年20-1]
- The scope of conditions for which preimplantation genetic diagnosis (PGD) is licensed has recently been expanded in the United Kingdom to include genetic predisposition to adult-onset cancer. This qualitative interview s...
- EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta
[作者：van Dijk, FS; Byers, PH; Dalgleish, R; Malfait, F; Maugeri, A; Rohrbach, M; Symoens, S; Sistermans, EA; Pals, G,期刊：European Journal of Human Genetics, 页码：11-19 , 文章类型： Article，,卷期：2012年20-1]
- Osteogenesis imperfecta (OI) comprises a group of inherited disorders characterized by bone fragility and increased susceptibility to fractures. Historically, the laboratory confirmation of the diagnosis OI rested on cul...
- Discrepancies in reporting the CAG repeat lengths for Huntington's disease
[作者：Quarrell, OW; Handley, O; O'Donovan, K; Dumoulin, C; Ramos-Arroyo, M; Biunno, I; Bauer, P; Kline, M; Landwehrmeyer, GB,期刊：European Journal of Human Genetics, 页码：20-26 , 文章类型： Article，,卷期：2012年20-1]
- Huntington's disease results from a CAG repeat expansion within the Huntingtin gene; this is measured routinely in diagnostic laboratories. The European Huntington's Disease Network REGISTRY project centrally measures CA...
- Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of > 72 400 specimens
[作者：Sugarman, EA; Nagan, N; Zhu, H; Akmaev, VR; Zhou, ZQ; Rohlfs, EM; Flynn, K; Hendrickson, BC; Scholl, T; Sirko-Osadsa, DA; Allitto, BA,期刊：European Journal of Human Genetics, 页码：27-32 , 文章类型： Article，,卷期：2012年20-1]
- Spinal muscular atrophy (SMA) is a leading inherited cause of infant death with a reported incidence of similar to 1 in 10 000 live births and is second to cystic fibrosis as a common, life-shortening autosomal recessive...
- Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome
[作者：Hammond, P; Hannes, F; Suttie, M; Devriendt, K; Vermeesch, JR; Faravelli, F; Forzano, F; Parekh, S; Williams, S; McMullan, D; South, ST; Carey, JC; Quarrell, O,期刊：European Journal of Human Genetics, 页码：33-40 , 文章类型： Article，,卷期：2012年20-1]
- Wolf-Hirschhorn syndrome is caused by anomalies of the short arm of chromosome 4. About 55% of cases are due to de novo terminal deletions, 40% from unbalanced translocations and 5% from other abnormalities. The facial p...
- Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles
[作者：Laffita-Mesa, JM; Velazquez-Perez, LC; Falcon, NS; Cruz-Marino, T; Zaldivar, YG; Mojena, YV; Almaguer-Gotay, D; Mederos, LEA; Labrada, RR,期刊：European Journal of Human Genetics, 页码：41-49 , 文章类型： Article，,卷期：2012年20-1]
- The role of short, large or intermediate normal alleles (ANs) of the ataxin-2 gene in generating expanded alleles (EAs) causing spinocerebellar ataxia type 2 (SCA2) is poorly understood. It has been postulated that SCA2 ...
- Advances in Alport syndrome diagnosis using next-generation sequencing
[作者：Artuso, R; Fallerini, C; Dosa, L; Scionti, F; Clementi, M; Garosi, G; Massella, L; Epistolato, MC; Mancini, R; Mari, F; Longo, I; Ariani, F; Renieri, A; Bruttini, M,期刊：European Journal of Human Genetics, 页码：50-57 , 文章类型： Article，,卷期：2012年20-1]
- Alport syndrome (ATS) is a hereditary nephropathy often associated with sensorineural hypoacusis and ocular abnormalities. Mutations in the COL4A5 gene cause X-linked ATS. Mutations in COL4A4 and COL4A3 genes have been r...
- A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions
[作者：Selmer, KK; Gilfillan, GD; Stromme, P; Lyle, R; Hughes, T; Hjorthaug, HS; Brandal, K; Nakken, S; Misceo, D; Egeland, T; Munthe, LA; Braekken, SK; Undlien, DE,期刊：European Journal of Human Genetics, 页码：58-63 , 文章类型： Article，,卷期：2012年20-1]
- Next-generation sequencing (NGS) techniques have already shown their potential in the identification of mutations underlying rare inherited disorders. We report here the application of linkage analysis in combination wit...
- C1q enhances cone photoreceptor survival in a mouse model of autosomal recessive retinitis pigmentosa
[作者：Humphries, MM; Kenna, PF; Campbell, M; Tam, LCS; Nguyen, ATH; Farrar, GJ; Botto, M; Kiang, AS; Humphries, P,期刊：European Journal of Human Genetics, 页码：64-68 , 文章类型： Article，,卷期：2012年20-1]
- Retinitis pigmentosa (RP) is a degenerative retinal disease involving progressive loss of rod and cone photoreceptor function. It represents the most common form of registered blindness among the working aged populations...
- Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes
[作者：Kerr, B; Soto, J; Saez, M; Abrams, A; Walz, K; Young, JI,期刊：European Journal of Human Genetics, 页码：69-76 , 文章类型： Article，,卷期：2012年20-1]
- Rett syndrome (RTT) is a disorder that affects patients' ability to communicate, move and behave. RTT patients are characterized by impaired language, stereotypic behaviors, frequent seizures, ataxia and sleep disturbanc...
- Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits
[作者：Zaboli, G; Ameur, A; Igl, W; Johansson, A; Hayward, C; Vitart, V; Campbell, S; Zgaga, L; Polasek, O; Schmitz, G; van Duijn, C; Oostra, B; Pramstaller, P; Hicks, A; Meitinger, T; Rudan, I; Wright, A; Wilson, JF; Campbell, H; Gyllensten, U,期刊：European Journal of Human Genetics, 页码：77-83 , 文章类型： Article，,卷期：2012年20-1]
- We have used targeted genomic sequencing of high-complexity DNA pools based on long-range PCR and deep DNA sequencing by the SOLiD technology. The method was used for sequencing of 286 kb from four chromosomal regions wi...
- A genome-wide study of panic disorder suggests the amiloride-sensitive cation channel 1 as a candidate gene
[作者：Gregersen, N; Dahl, HA; Buttenschon, HN; Nyegaard, M; Hedemand, A; Als, TD; Wang, AG; Joensen, S; Woldbye, DPD; Koefoed, P; Kristensen, AS; Kruse, TA; Borglum, AD; Mors, O,期刊：European Journal of Human Genetics, 页码：84-90 , 文章类型： Article，,卷期：2012年20-1]
- Panic disorder (PD) is a mental disorder with recurrent panic attacks that occur spontaneously and are not associated to any particular object or situation. There is no consensus on what causes PD. However, it is recogni...
- Evidence of linkage to chromosomes 10p15.3-p15.1, 14q24.3-q31.1 and 9q33.3-q34.3 in non-syndromic colorectal cancer families
[作者：Saunders, IW; Ross, J; Macrae, F; Young, GP; Blanco, I; Brohede, J; Brown, G; Brookes, D; Lockett, T; Molloy, PL; Moreno, V; Capella, G; Hannan, GN,期刊：European Journal of Human Genetics, 页码：91-96 , 文章类型： Article，,卷期：2012年20-1]
- Up to 25% of colorectal cancer (CRC) may be caused by inherited genetic variants that have yet to be identified. Previous genome-wide linkage studies (GWLSs) have identified a new loci postulated to contain novel CRC ris...
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