- Craniosynostosis
[作者：Johnson, D; Wilkie, AOM,期刊：European Journal of Human Genetics, 页码：369-376 , 文章类型： Article，,卷期：2011年19-4]
- Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many challenges in classification and treatment. At least 20% of cases are caused by specific single gene mutations or chromosome abnorma...
- Personal genetics: regulatory framework in Europe from a service provider's perspective
[作者：Grimaldi, KA; Look, MP; Scioli, GA; Clavero, JC; Marinos, S; Tagaris, T,期刊：European Journal of Human Genetics, 页码：382-388 , 文章类型： Article，,卷期：2011年19-4]
- The purpose of this article is to give an overview and discuss the relevant regulations in place, or under consideration, regarding healthcare-related personal genetics services in Europe - this is a rapidly evolving fie...
- ALK2 mutation in a patient with Down's syndrome and a congenital heart defect
[作者：Joziasse, IC; Smith, KA; Chocron, S; van Dinther, M; Guryev, V; van de Smagt, JJ; Cuppen, E; ten Dijke, P; Mulder, BJM; Maslen, CL; Reshey, B; Doevendans, PA; Bakkers, J,期刊：European Journal of Human Genetics, 页码：389-393 , 文章类型： Article，,卷期：2011年19-4]
- Down's syndrome (DS), resulting from an additional copy of chromosome 21 (trisomy 21), is frequently associated with congenital heart defects (CHDs). Although the increased dosage of chromosome 21 sequences is likely to ...
- Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy
[作者：Smits, P; Saada, A; Wortmann, SB; Heister, AJ; Brink, M; Pfundt, R; Miller, C; Haas, D; Hantschmann, R; Rodenburg, RJT; Smeitink, JAM; van den Heuvel, LP,期刊：European Journal of Human Genetics, 页码：394-399 , 文章类型： Article，,卷期：2011年19-4]
- The oxidative phosphorylation (OXPHOS) system is under control of both the mitochondrial and the nuclear genomes; 13 subunits are synthesized by the mitochondrial translation machinery. We report a patient with Cornelia ...
- The phenotype of recurrent 10q22q23 deletions and duplications
[作者：van Bon, BWM; Balciuniene, J; Fruhman, G; Nagamani, SCS; Broome, DL; Cameron, E; Martinet, D; Roulet, E; Jacquemont, S; Beckmann, JS; Irons, M; Potocki, L; Lee, B; Cheung, SW; Patel, A; Bellini, M; Selicorni, A; Ciccone, R; Silengo, M; Vetro, A; Knoers, NV; de Leeuw, N; Pfundt, R; Wolf, B; Jira, P; Aradhya, S; Stankiewicz, P; Brunner, HG; Zuffardi, O; Selleck, SB; Lupski, JR; de Vries, BBA,期刊：European Journal of Human Genetics, 页码：400-408 , 文章类型： Article，,卷期：2011年19-4]
- The genomic architecture of the 10q22q23 region is characterised by two low-copy repeats (LCRs3 and 4), and deletions in this region appear to be rare. We report the clinical and molecular characterisation of eight novel...
- MECP2 duplications in six patients with complex sex chromosome rearrangements
[作者：Breman, AM; Ramocki, MB; Kang, SHL; Williams, M; Freedenberg, D; Patel, A; Bader, PI; Cheung, SW,期刊：European Journal of Human Genetics, 页码：409-415 , 文章类型： Article，,卷期：2011年19-4]
- Duplications of the Xq28 chromosome region resulting in functional disomy are associated with a distinct clinical phenotype characterized by infantile hypotonia, severe developmental delay, progressive neurological impai...
- Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques
[作者：Romanelli, V; Meneses, HNM; Fernandez, L; Martinez-Glez, V; Gracia-Bouthelier, R; Fraga, MF; Guillen, E; Nevado, J; Gean, E; Martorell, L; Marfil, VE; Garcia-Minaur, S; Lapunzina, P,期刊：European Journal of Human Genetics, 页码：416-421 , 文章类型： Article，,卷期：2011年19-4]
- Beckwith-Wiedemann syndrome (BWS) is a phenotypically and genotypically heterogeneous overgrowth syndrome characterized by somatic overgrowth, macroglossia and abdominal wall defects. Other usual findings are hemihyperpl...
- Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes
[作者：Zampieri, S; Buratti, E; Dominissini, S; Montalvo, AL; Pittis, MG; Bembi, B; Dardis, A,期刊：European Journal of Human Genetics, 页码：422-431 , 文章类型： Article，,卷期：2011年19-4]
- Glycogen-storage disease type II is an autosomal recessive-inherited disorder due to the deficiency of acid alpha-glucosidase. A large number of mutations in the acid alpha-glucosidase gene have been described to date. A...
- Relationship between the polymorphism of tumor necrosis factor-alpha-308 G > A and susceptibility to inflammatory bowel diseases and colorectal cancer: a meta-analysis
[作者：Wang, F; Wang, MQ; Chen, WY; Hu, FL; Li, DD; Ren, JJ; Dong, XS; Cui, BB; Zhao, YS,期刊：European Journal of Human Genetics, 页码：432-437 , 文章类型： Article，,卷期：2011年19-4]
- Inflammatory bowel disease (IBD) and colorectal cancer (CRC) are common health problems worldwide. Tumor necrosis factor (TNF) is a type of cytokine that induces inflammation and inhibits tumorigenesis. Several studies h...
- SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?
[作者：Ritz, K; van Schaik, BDC; Jakobs, ME; van Kampen, AH; Aronica, E; Tijssen, MA; Baas, F,期刊：European Journal of Human Genetics, 页码：438-444 , 文章类型： Article，,卷期：2011年19-4]
- Myoclonus-dystonia (M-D) is a neurological movement disorder with involuntary jerky and dystonic movements as major symptoms. About 50% of M-D patients have a mutation in e-sarcoglycan (SGCE), a maternally imprinted gene...
- Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma
[作者：Fernandez-Martinez, L; Letteboer, S; Mardin, CY; Weisschuh, N; Gramer, E; Weber, BHF; Rautenstrauss, B; Ferreira, PA; Kruse, FE; Reis, A; Roepman, R; Pasutto, F,期刊：European Journal of Human Genetics, 页码：445-451 , 文章类型： Article，,卷期：2011年19-4]
- Glaucoma is a genetically heterogeneous disorder and is the second cause of blindness worldwide owing to the progressive degeneration of retinal ganglion neurons. Very few genes causing glaucoma were identified to this d...
- Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene
[作者：Clarke, NF; Maugenre, S; Vandebrouck, A; Urtizberea, JA; Willer, T; Peat, RA; Gray, F; Bouchet, C; Manya, H; Vuillaumier-Barrot, S; Endo, T; Chouery, E; Campbell, KP; Megarbane, A; Guicheney, P,期刊：European Journal of Human Genetics, 页码：452-457 , 文章类型： Article，,卷期：2011年19-4]
- Mutation of the LARGE gene is the rarest of the six known genetic causes of alpha-dystroglycanopathy. We report further a family with MDC1D due to a complex genomic rearrangement that was not apparent on standard sequenc...
|