- Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)
[作者:Ramsden, SC; Davidson, AE; Leroy, BP; Moore, AT; Webster, AR; Black, GCM; Manson, FDC,期刊:European Journal of Human Genetics, 页码:483-483 , 文章类型: Editorial Material,,卷期:2012年20-5]
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- 8q23.3 and 11q23.1 as modifying loci influencing the risk for CRC in Lynch syndrome Reply
[作者:Houlle, S; Charbonnier, F; Houivet, E; Tinat, J; Buisine, MP; Caron, O; Benichou, J; Baert-Desurmont, S; Frebourg, T,期刊:European Journal of Human Genetics, 页码:488-488 , 文章类型: Letter,,卷期:2012年20-5]
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- Association study of the single nucleotide polymorphisms of PARK2 and PACRG with leprosy susceptibility in Chinese population
[作者:Li, JH; Liu, H; Liu, J; Fu, X; Yu, YX; Yu, GQ; Chen, SM; Chu, TS; Lu, N; Bao, FF; Yuan, CY; Zhang, FR,期刊:European Journal of Human Genetics, 页码:488-489 , 文章类型: Letter,,卷期:2012年20-5]
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- Disease gene identification strategies for exome sequencing
[作者:Gilissen, C; Hoischen, A; Brunner, HG; Veltman, JA,期刊:European Journal of Human Genetics, 页码:490-497 , 文章类型: Review,,卷期:2012年20-5]
- Next generation sequencing can be used to search for Mendelian disease genes in an unbiased manner by sequencing the entire protein-coding sequence, known as the exome, or even the entire human genome. Identifying the pa...
- Health-care providers' views on pursuing reproductive benefit through newborn screening: the case of sickle cell disorders
[作者:Bombard, Y; Miller, FA; Hayeems, RZ; Wilson, BJ; Carroll, JC; Paynter, M; Little, J; Allanson, J; Bytautas, JP; Chakraborty, P,期刊:European Journal of Human Genetics, 页码:498-504 , 文章类型: Article,,卷期:2012年20-5]
- Newborn screening (NBS) programs aim to identify affected infants before the onset of treatable disorders. Historically, benefits to the family and society were considered secondary to this clinical benefit; yet, recent ...
- ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible
[作者:Delatycki, MB; Wolthuizen, M; Collins, V; Varley, E; Craven, J; Allen, KJ; Gurrin, LC; Aitken, M; Trembath, MK; Bond, L; Wilson, GR; Stephenson, SEM; Macciocca, I; Hickerton, C; Lockhart, PJ; Metcalfe, SA,期刊:European Journal of Human Genetics, 页码:505-509 , 文章类型: Article,,卷期:2012年20-5]
- As the results of the Human Genome Project are realised, screening for genetic mutations that predispose to preventable disease is becoming increasingly possible. How and where such screening should best be offered are c...
- Genotype and cognitive phenotype of patients with tuberous sclerosis complex
[作者:van Eeghen, AM; Black, ME; Pulsifer, MB; Kwiatkowski, DJ; Thiele, EA,期刊:European Journal of Human Genetics, 页码:510-515 , 文章类型: Article,,卷期:2012年20-5]
- Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder, which affects 1 in 6000 people. About half of these patients are affected by mental retardation, which has been associated with TSC2 mutati...
- Association of genomic instability, and the methylation status of imprinted genes and mismatch-repair genes, with neural tube defects
[作者:Liu, Z; Wang, ZG; Li, YY; Ouyang, SR; Chang, HB; Zhang, T; Zheng, XY; Wu, JX,期刊:European Journal of Human Genetics, 页码:516-520 , 文章类型: Article,,卷期:2012年20-5]
- We studied the genomic instability and methylation status of the mismatch-repair (MMR) genes hMLH1 and hMSH2, and the imprinted genes H19/IGF2, in fetuses with neural tube defects (NTDs) to explore the pathogenesis of th...
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