- Does the HSD17B10 gene escape from X-inactivation? Reply
[作者:Garcia-Villoria, J; Gort, L; Madrigal, I; Fons, C; Fernandez, C; Navarro-Sastre, A; Mila, M; Briones, P; Garcia-Cazorla, MA; Campistol, J; Ribes, A,期刊:European Journal of Human Genetics, 页码:124-124 , 文章类型: Letter,,卷期:2011年19-2]
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- Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy
[作者:Arrigoni, FI; Matarin, M; Thompson, PJ; Michaelides, M; McClements, ME; Redmond, E; Clarke, L; Ellins, E; Mohamed, S; Pavord, I; Hunt, DM; Moore, AT; Halcox, J; Sisodiya, SM,期刊:European Journal of Human Genetics, 页码:131-137 , 文章类型: Article,,卷期:2011年19-2]
- Mutations in prominin 1 (PROM1) have been shown to result in retinitis pigmentosa, macular degeneration and cone-rod dystrophy. Because of the putative role of PROM1 in hippocampal neurogenesis, we examined two kindreds ...
- Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway
[作者:Kleefstra, T; Wortmann, SB; Rodenburg, RJT; Bongers, EMHF; Hadzsiev, K; Noordam, C; van den Heuvel, LP; Nillesen, WM; Hollody, K; Gillessen-Kaesbach, G; Lammens, M; Smeitink, JAM; van der Burgt, I; Morava, E,期刊:European Journal of Human Genetics, 页码:138-144 , 文章类型: Article,,卷期:2011年19-2]
- Various syndromes of the Ras-mitogen-activated protein kinase (MAPK) pathway, including the Noonan, Cardio-Facio-Cutaneous, LEOPARD and Costello syndromes, share the common features of craniofacial dysmorphisms, heart de...
- Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia
[作者:Schaaf, CP; Goin-Kochel, RP; Nowell, KP; Hunter, JV; Aleck, KA; Cox, S; Patel, A; Bacino, CA; Shinawi, M,期刊:European Journal of Human Genetics, 页码:152-156 , 文章类型: Article,,卷期:2011年19-2]
- 16p11.2 rearrangements are associated with developmental delay, cognitive impairment, autism spectrum disorder, behavioral problems (especially attention-deficit hyperactivity disorder), seizures, obesity, dysmorphic fea...
- Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients
[作者:van den Ouweland, AMW; Elfferich, P; Zonnenberg, BA; Arts, WF; Kleefstra, T; Nellist, MD; Millan, JM; Withagen-Hermans, C; Maat-Kievit, AJA; Halley, DJJ,期刊:European Journal of Human Genetics, 页码:157-163 , 文章类型: Article,,卷期:2011年19-2]
- Tuberous sclerosis complex (TSC), an autosomal dominant disorder, is a multisystem disease with manifestations in the central nervous system, kidneys, skin and/or heart. Most TSC patients carry a pathogenic mutation in e...
- Gene-based interaction analysis by incorporating external linkage disequilibrium information
[作者:He, J; Wang, K; Edmondson, AC; Rader, DJ; Li, C; Li, MY,期刊:European Journal of Human Genetics, 页码:164-172 , 文章类型: Article,,卷期:2011年19-2]
- Gene-gene interactions have an important role in complex human diseases. Detection of gene-gene interactions has long been a challenge due to their complexity. The standard method aiming at detecting SNP-SNP interactions...
- Estimating penetrance from multiple case families with predisposing mutations: extension of the 'genotype-restricted likelihood' (GRL) method
[作者:Bonaiti, B; Bonadona, V; Perdry, H; Andrieu, N; Bonaiti-Pellie, C,期刊:European Journal of Human Genetics, 页码:173-179 , 文章类型: Article,,卷期:2011年19-2]
- Some diseases are due to germline mutations in predisposing genes, such as cancer family syndromes. Precise estimation of the age-specific cumulative risk (penetrance) for mutation carriers is essential for defining prev...
- Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome
[作者:Krumbiegel, M; Pasutto, F; Schlotzer-Schrehardt, U; Uebe, S; Zenkel, M; Mardin, CY; Weisschuh, N; Paoli, D; Gramer, E; Becker, C; Ekici, AB; Weber, BHF; Nuurnberg, P; Kruse, FE; Reis, A,期刊:European Journal of Human Genetics, 页码:186-193 , 文章类型: Article,,卷期:2011年19-2]
- Genetic and nongenetic factors contribute to development of pseudoexfoliation (PEX) syndrome, a complex, age-related, generalized matrix process frequently associated with glaucoma. To identify specific genetic variants ...
- Genome-wide association of breast cancer: composite likelihood with imputed genotypes
[作者:Politopoulos, I; Gibson, J; Tapper, W; Ennis, S; Eccles, D; Collins, A,期刊:European Journal of Human Genetics, 页码:194-199 , 文章类型: Article,,卷期:2011年19-2]
- We describe composite likelihood-based analysis of a genome-wide breast cancer case-control sample from the Cancer Genetic Markers of Susceptibility project. We determine 14 380 genome regions of fixed size on a linkage ...
- Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny
[作者:Zaragoza, MV; Brandon, MC; Diegoli, M; Arbustini, E; Wallace, DC,期刊:European Journal of Human Genetics, 页码:200-207 , 文章类型: Article,,卷期:2011年19-2]
- Pathogenic mitochondrial DNA (mtDNA) mutations leading to mitochondrial dysfunction can cause cardiomyopathy and heart failure. Owing to a high mutation rate, mtDNA defects may occur at any nucleotide in its 16 569 bp se...
- Comprehensive fine mapping of chr12q12-14 and follow-up replication identify activin receptor 1B (ACVR1B) as a muscle strength gene
[作者:Windelinckx, A; De Mars, G; Huygens, W; Peeters, MW; Vincent, B; Wijmenga, C; Lambrechts, D; Delecluse, C; Roth, SM; Metter, EJ; Ferrucci, L; Aerssens, J; Vlietinck, R; Beunen, GP; Thomis, MA,期刊:European Journal of Human Genetics, 页码:208-215 , 文章类型: Article,,卷期:2011年19-2]
- Muscle strength is important in functional activities of daily living and the prevention of common pathologies. We describe the two-staged fine mapping of a previously identified linkage peak for knee strength on chr12q1...
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