- Legacy of mutiny on the Bounty: founder effect and admixture on Norfolk Island
[作者：Macgregor, S; Bellis, C; Lea, RA; Cox, H; Dyer, T; Blangero, J; Visscher, PM; Griffiths, LR,期刊：European Journal of Human Genetics, 页码：67-72 , 文章类型： Article，,卷期：2010年18-1]
- The population of Norfolk Island, located off the eastern coast of Australia, possesses an unusual and fascinating history. Most present-day islanders are related to a small number of the 'Bounty' mutineer founders. Thes...
- Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men
[作者：Boissonnas, CC; El Abdalaoui, H; Haelewyn, V; Fauque, P; Dupont, JM; Gut, I; Vaiman, D; Jouannet, P; Tost, J; Jammes, H,期刊：European Journal of Human Genetics, 页码：73-80 , 文章类型： Article，,卷期：2010年18-1]
- DNA methylation marks, a key modification of imprinting, are erased in primordial germ cells and sex specifically re-established during gametogenesis. Abnormal epigenetic programming has been proposed as a possible mecha...
- Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients
[作者：Titze, S; Peters, H; Wahrisch, S; Harder, T; Guse, K; Buske, A; Tinschert, S; Harder, A,期刊：European Journal of Human Genetics, 页码：81-87 , 文章类型： Article，,卷期：2010年18-1]
- Neurofibromatosis type 1 (NF1) is caused by NF1 gene mutations. The phenotype is highly variable, with 'modifiers' being discussed as potential determinants. Mismatch repair deficiency was shown to cause NF1 mutations, b...
- Association of FTO variants with BMI and fat mass in the self-contained population of Sorbs in Germany
[作者：Tonjes, A; Zeggini, E; Kovacs, P; Bottcher, Y; Schleinitz, D; Dietrich, K; Morris, AP; Enigk, B; Rayner, NW; Koriath, M; Eszlinger, M; Kemppinen, A; Prokopenko, I; Hoffmann, K; Teupser, D; Thiery, J; Krohn, K; McCarthy, MI; Stumvoll, M,期刊：European Journal of Human Genetics, 页码：104-110 , 文章类型： Article，,卷期：2010年18-1]
- The association between common variants in the FTO gene with weight, adiposity and body mass index (BMI) has now been widely replicated. Although the causal variant has yet to be identified, it most likely maps within a ...
- The common biological basis for common complex diseases: evidence from lipoprotein lipase gene
[作者：Xie, C; Wang, ZC; Liu, XF; Yang, MS,期刊：European Journal of Human Genetics, 页码：3-7 , 文章类型： Editorial Material，,卷期：2010年18-1]
- The lipoprotein lipase (LPL) gene encodes a rate-limiting enzyme protein that has a key role in the hydrolysis of triglycerides. Hypertriglyceridemia, one widely prevalent syndrome of LPL deficiency and dysfunction, may ...
- Beckwith-Wiedemann syndrome
[作者：Weksberg, R; Shuman, C; Beckwith, JB,期刊：European Journal of Human Genetics, 页码：8-14 , 文章类型： Article，,卷期：2010年18-1]
- Beckwith-Wiedemann syndrome (BWS) is a model disorder for the study of imprinting, growth dysregulation, and tumorigenesis. Unique observations in this disorder point to an important embryonic developmental window releva...
- Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis
[作者：Mues, G; Tardivel, A; Willen, L; Kapadia, H; Seaman, R; Frazier-Bowers, S; Schneider, P; D'Souza, RN,期刊：European Journal of Human Genetics, 页码：19-25 , 文章类型： Article，,卷期：2010年18-1]
- Mutations of the Ectodysplasin-A (EDA) gene are generally associated with the syndrome hypohidrotic ectodermal dysplasia (MIM 305100), but they can also manifest as selective, non-syndromic tooth agenesis (MIM300606). We...
- Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis
[作者：Lin, MW; Lee, DD; Liu, TT; Lin, YF; Chen, SY; Huang, CC; Weng, HY; Liu, YF; Tanaka, A; Arita, K; Lai-Cheong, J; Palisson, F; Chang, YT; Wong, CK; Matsuura, I; McGrath, JA; Tsai, SF,期刊：European Journal of Human Genetics, 页码：26-32 , 文章类型： Article，,卷期：2010年18-1]
- Primary cutaneous amyloidosis (PCA) is an itchy skin disorder associated with amyloid deposits in the superficial dermis. The disease is relatively common in Southeast Asia and South America. Autosomal dominant PCA has b...
- An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient
[作者：Ferrero, GB; Howald, C; Micale, L; Biamino, E; Augello, B; Fusco, C; Turturo, MG; Forzano, S; Reymond, A; Merla, G,期刊：European Journal of Human Genetics, 页码：33-38 , 文章类型： Article，,卷期：2010年18-1]
- Williams-Beuren syndrome (WBS; OMIM no. 194050) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion of 1.55Mb on chromosome 7q11.23 spanning 28 genes. Haploinsufficiency of the ELN gene was sho...
- Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex
[作者：Poot, M; Eleveld, MJ; van't Slot, R; van Amstel, HKP; Hochstenbach, R,期刊：European Journal of Human Genetics, 页码：39-46 , 文章类型： Article，,卷期：2010年18-1]
- To determine the phenotypic significance of copy number changes (CNCs) in the human genome, we performed genome-wide segmental aneuploidy profiling by BAC-based array-CGH of 278 unrelated patients with multiple congenita...
|