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文章名     作者     期刊名     摘要     卷     期         如果没有找到您所需要的文献，请点击 ——此处申请     共20条记录   Lactase persistence-related genetic variant: population substructure and health outcomes [作者：Smith, GD; Lawlor, DA; Timpson, NJ; Baban, J; Kiessling, M; Day, INM; Ebrahim, S,期刊：European Journal of Human Genetics, 页码：357-367 , 文章类型： Article，,卷期：2009年17-3] Lactase persistence is an autosomal-dominant trait that is common in European-derived populations. A basic tendency for lactase persistence to increase from the southeast to the northwest across European populations has ... Identification of a prostate cancer susceptibility gene on chromosome 5p13q12 associated with risk of both familial and sporadic disease [作者：FitzGerald, LM; Patterson, B; Thomson, R; Polanowski, A; Quinn, S; Brohede, J; Thornton, T; Challis, D; Mackey, DA; Dwyer, T; Foote, S; Hannan, GN; Stankovich, J; McKay, JD; Dickinson, JL,期刊：European Journal of Human Genetics, 页码：368-377 , 文章类型： Article，,卷期：2009年17-3] Genetic heterogeneity is a difficulty frequently encountered in the search for genes conferring susceptibility to prostate cancer. To circumvent this issue, we selected a large prostate cancer pedigree for genome-wide li... Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4 [作者：Backx, L; Ceulemans, B; Vermeesch, JR; Devriendt, K; Van Esch, H,期刊：European Journal of Human Genetics, 页码：378-382 , 文章类型： Article，,卷期：2009年17-3] The tyrosine kinase receptor ErbB4 (erythroblastic leukemia viral oncogene homolog 4) plays a crucial role in numerous neurobiological processes in the developing and adult brain. Moreover, recent molecular genetics stud... SNP frequency estimation using massively parallel sequencing of pooled DNA [作者：Ingman, M; Gyllensten, U,期刊：European Journal of Human Genetics, 页码：383-386 , 文章类型： Article，,卷期：2009年17-3] Resequencing of genomic regions that have been implicated by linkage and/or association studies to harbor genetic susceptibility loci represents a necessary step to identify causal variants. Massively parallel sequencing... Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia (vol 17, pg 187, 2009) [作者：Shoukier, M; Neesen, J; Sauter, SM; Argyriou, L; Doerwald, N; Pantakani, DVK; Mannan, AU,期刊：European Journal of Human Genetics, 页码：401-402 , 文章类型： Correction，,卷期：2009年17-3] Paternal care and imprinting Of wolves and men: the role of paternal child care in the evolution of genomic imprinting [作者：Horsthemke, B,期刊：European Journal of Human Genetics, 页码：273-274 , 文章类型： Editorial Material，,卷期：2009年17-3] Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage? [作者：D'Adamo, P; Guerci, VI; Fabretto, A; Faletra, F; Grasso, DL; Ronfani, L; Montico, M; Morgutti, M; Guastalla, P; Gasparini, P,期刊：European Journal of Human Genetics, 页码：284-286 , 文章类型： Letter，,卷期：2009年17-3] A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome [作者：Petit, FM; Hebert, M; Picone, O; Brisset, S; Maurin, ML; Parisot, F; Capel, L; Benattar, C; Senat, MV; Tachdjian, G; Labrune, P,期刊：European Journal of Human Genetics, 页码：387-390 , 文章类型： Article，,卷期：2009年17-3] Alpha feto-protein (AFP) is a major plasma protein produced by the yolk sac and the liver during the fetal period. During the second trimester of pregnancy, APF and beta hCG serum concentrations are commonly used for scr... Sequence variant on 9p21 is associated with the presence of abdominal aortic aneurysm disease but does not have an impact on aneurysmal expansion [作者：Thompson, AR; Golledge, J; Cooper, JA; Hafez, H; Norman, PE; Humphries, SE,期刊：European Journal of Human Genetics, 页码：391-394 , 文章类型： Article，,卷期：2009年17-3] Abdominal aortic aneurysm (AAA) is among a number of vascular disorders to be recently associated with a common allelic variant situated on chromosome 9p21. To further assess the significance of this region of the genome... A large-scale mutation search reveals genetic heterogeneity in 3M syndrome [作者：Huber, C; Delezoide, AL; Guimiot, F; Baumann, C; Malan, V; Le Merrer, M; Da Silva, DB; Bonneau, D; Chatelain, P; Chu, C; Clark, R; Cox, H; Edery, P; Edouard, T; Fano, V; Gibson, K; Gillessen-Kaesbach, G; Giovannucci-Uzielli, ML; Graul-Neumann, LM; van Hagen, JM; van Hest, L; Horovitz, D; Melki, J; Partsch, CJ; Plauchu, H; Rajab, A; Rossi, M; Sillence, D; Steichen-Gersdorf, E; Stewart, H; Unger, S; Zenker, M; Munnich, A; Cormier-Daire, V,期刊：European Journal of Human Genetics, 页码：395-400 , 文章类型： Article，,卷期：2009年17-3] The 3M syndrome is a rare autosomal recessive disorder recently ascribed to mutations in the CUL7 gene and characterized by severe pre- and postnatal growth retardation. Studying a series of 33 novel cases of 3M syndrome... Treacher Collins syndrome: etiology, pathogenesis and prevention [作者：Trainor, PA; Dixon, J; Dixon, MJ,期刊：European Journal of Human Genetics, 页码：275-283 , 文章类型： Article，,卷期：2009年17-3] Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development that arises as the result of mutations in the TCOF1 gene, which encodes a nucleolar phosphoprotein known as Treacle. Individuals d... H1 haplotype of the MAPT gene is associated with lower regional gray matter volume in healthy carriers [作者：Canu, E; Boccardi, M; Ghidoni, R; Benussi, L; Testa, C; Pievani, M; Bonetti, M; Binetti, G; Frisoni, GB,期刊：European Journal of Human Genetics, 页码：287-294 , 文章类型： Article，,卷期：2009年17-3] The microtubule-associated protein Tau (MAPT) gene codes for the protein Tau that is involved in the pathogenesis of neurodegenerative diseases. Recent studies have detected an over-representation of the H1 haplotype of ... Decreasing uptake of predictive testing for Huntington's disease in a German centre: 12 years' experience (1993-2004) [作者：Bernhardt, C; Schwan, AM; Kraus, P; Epplen, JT; Kunstmann, E,期刊：European Journal of Human Genetics, 页码：295-300 , 文章类型： Article，,卷期：2009年17-3] In this retrospective study, we examined changes in decision-making for and against the predictive genetic test for Huntington's disease including 478 persons at risk who had undergone genetic counselling in one centre i... A reliable cell-based assay for testing unclassified TSC2 gene variants [作者：Coevoets, R; Arican, S; Hoogeveen-Westerveld, M; Simons, E; van den Ouweland, A; Halley, D; Nellist, M,期刊：European Journal of Human Genetics, 页码：301-310 , 文章类型： Article，,卷期：2009年17-3] Tuberous sclerosis complex (TSC) is characterised by seizures, mental retardation and the development of hamartomas in a variety of organs and tissues. The disease is caused by mutations in either the TSC1 gene or the TS... Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements [作者：Bocciardi, R; Bordo, D; Di Duca, M; Di Rocco, M; Ravazzolo, R,期刊：European Journal of Human Genetics, 页码：311-318 , 文章类型： Article，,卷期：2009年17-3] Fibrodysplasia ossificans progressiva (FOP, MIM 135100) is a rare genetic disorder characterized by congenital great toe malformations and progressive heterotopic ossification transforming skeletal muscles and connective... Missense mutations to the TSC1 gene cause tuberous sclerosis complex [作者：Nellist, M; van den Heuvel, D; Schluep, D; Exalto, C; Goedbloed, M; Maat-Kievit, A; van Essen, T; Van Spaendonck-Zwarts, K; Jansen, F; Helderman, P; Bartalini, G; Vierimaa, O; Penttinen, M; van den Ende, J; van den Ouweland, A; Halley, D,期刊：European Journal of Human Genetics, 页码：319-328 , 文章类型： Article，,卷期：2009年17-3] Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in a variety of organs and tissues. The disease is caused by mutations in either the TSC1 gene on chromoso...