- Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families
[作者：Rodriguez-Revenga, L; Madrigal, I; Pagonabarraga, J; Xuncla, M; Badenas, C; Kulisevsky, J; Gomez, B; Mila, M,期刊：European Journal of Human Genetics, 页码：1359-1362 , 文章类型： Article，,卷期：2009年17-10]
- Within the past few years, there has been a significant change in identifying and characterizing the FMR1 premutation associated phenotypes. The premutation has been associated with elevated FMR1 mRNA levels and slight t...
- Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15 (vol 17, pg 554, 2009)
[作者：Doucette, L; Merner, ND; Cooke, S; Ives, E; Galutira, D; Walsh, V; Walsh, T; MacLaren, L; Cater, T; Fernandez, B; Green, JS; Wilcox, ER; Shotland, LI; Li, XC; Lee, M; King, MC; Young, TL,期刊：European Journal of Human Genetics, 页码：1363-1363 , 文章类型： Correction，,卷期：2009年17-10]
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- Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap
[作者：Harmsen, MB; Azzarello-Burri, S; Gonzalez, MMG; Gillessen-Kaesbach, G; Meinecke, P; Muller, D; Rauch, A; Rossier, E; Seemanova, E; Spaich, C; Steiner, B; Wieczorek, D; Zenker, M; Kutsche, K,期刊：European Journal of Human Genetics, 页码：1207-1215 , 文章类型： Article，,卷期：2009年17-10]
- Focal dermal hypoplasia (FDH) is an X-linked developmental disorder with male lethality characterized by patchy dermal hypoplasia, skeletal and dental malformations, and microphthalmia or anophthalmia. Recently, heterozy...
- SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions
[作者：Beneteau, C; Cave, H; Moncla, A; Dorison, N; Munnich, A; Verloes, A; Leheup, B,期刊：European Journal of Human Genetics, 页码：1216-1221 , 文章类型： Article，,卷期：2009年17-10]
- We report five cases of multiple giant cell lesions in patients with typical Noonan syndrome. Such association has frequently been referred to as Noonan-like/multiple giant cell (NL/MGCL) syndrome before the molecular de...
- Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome
[作者：Rand-Hendriksen, S; Lundby, R; Tjeldhorn, L; Andersen, K; Offstad, J; Semb, SO; Smith, HJ; Paus, B; Geiran, O,期刊：European Journal of Human Genetics, 页码：1222-1230 , 文章类型： Article，,卷期：2009年17-10]
- The prevalence of each single feature in the Ghent criteria in patients with Marfan syndrome (MFS) is not known. To elucidate this, a cross-sectional study of 105 adults with presumed MFS was carried out. All patients we...
- Using biological networks to search for interacting loci in genome-wide association studies
[作者：Emily, M; Mailund, T; Hein, J; Schauser, L; Schierup, MH,期刊：European Journal of Human Genetics, 页码：1231-1240 , 文章类型： Article，,卷期：2009年17-10]
- Genome-wide association studies have identified a large number of single-nucleotide polymorphisms (SNPs) that individually predispose to diseases. However, many genetic risk factors remain unaccounted for. Proteins coded...
- The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy
[作者：Moller, DV; Andersen, PS; Hedley, P; Ersboll, MK; Bundgaard, H; Moolman-Smook, J; Christiansen, M; Kober, L,期刊：European Journal of Human Genetics, 页码：1241-1249 , 文章类型： Article，,卷期：2009年17-10]
- We investigated a Danish cohort of 31 unrelated patients with idiopathic dilated cardiomyopathy (IDC), to assess the role that mutations in sarcomere protein genes play in IDC. Patients were genetically screened by capil...
- Evidence for association with hepatocellular carcinoma at the PAPSS1 locus on chromosome 4q25 in a family-based study
[作者：Shih, WL; Yu, MW; Chen, PJ; Wu, TW; Lin, CL; Liu, CJ; Lin, SM; Tai, DI; Lee, SD; Liaw, YF,期刊：European Journal of Human Genetics, 页码：1250-1259 , 文章类型： Article，,卷期：2009年17-10]
- A region on chromosome 4q25 has recently been highlighted as linked to hepatocellular carcinoma (HCC). In this study, we performed a family-based association analysis with 67 single-nucleotide polymorphisms (SNPs) to map...
- Y-Chromosome distribution within the geo-linguistic landscape of northwestern Russia
[作者：Mirabal, S; Regueiro, M; Cadenas, AM; Cavalli-Sforza, LL; Underhill, PA; Verbenko, DA; Limborska, SA; Herrera, RJ,期刊：European Journal of Human Genetics, 页码：1260-1273 , 文章类型： Article，,卷期：2009年17-10]
- Populations of northeastern Europe and the Uralic mountain range are found in close geographic proximity, but they have been subject to different demographic histories. The current study attempts to better understand the...
- Variant on 9p21 strongly associates with coronary heart disease, but lacks association with common stroke
[作者：Lemmens, R; Abboud, S; Robberecht, W; Vanhees, L; Pandolfo, M; Thijs, V; Goris, A,期刊：European Journal of Human Genetics, 页码：1287-1293 , 文章类型： Article，,卷期：2009年17-10]
- Recently, genome-wide analyses revealed that variants on chromosome 9p21 are associated with myocardial infarction. We investigated whether this association was also present in a Belgian population of coronary artery dis...
- The FAS ligand promoter polymorphism, rs763110 (-844C > T), contributes to cancer susceptibility: evidence from 19 case-control studies
[作者：Zhang, ZZ; Qiu, LX; Wang, ML; Tong, N; Li, J; Zhang, ZD,期刊：European Journal of Human Genetics, 页码：1294-1303 , 文章类型： Article，,卷期：2009年17-10]
- The potentially functional polymorphism, rs763110 (-844C>T), in the promoter region of the FAS ligand (FASL) gene, has been implicated in cancer risk, but individually published studies show inconclusive results. To deri...
- Specific association of a CLEC16A/KIAA0350 polymorphism with NOD2/CARD15(-) Crohn's disease patients
[作者：Marquez, A; Varade, J; Robledo, G; Martinez, A; Mendoza, JL; Taxonera, C; Fernandez-Arquero, M; Diaz-Rubio, M; Gomez-Garcia, M; Lopez-Nevot, MA; de la Concha, EG; Martin, J; Urcelay, E,期刊：European Journal of Human Genetics, 页码：1304-1308 , 文章类型： Article，,卷期：2009年17-10]
- Independent genome-wide association studies highlighted the function of CLEC16A/KIAA0350 polymorphisms modifying the risk to either multiple sclerosis (rs6498169) or type 1 diabetes (rs2903692). This C-type lectin gene m...
- Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor
[作者：Ban, M; Goris, A; Lorentzen, AR; Baker, A; Mihalova, T; Ingram, G; Booth, DR; Heard, RN; Stewart, GJ; Bogaert, E; Dubois, B; Harbo, HF; Celius, EG; Spurkland, A; Strange, R; Hawkins, C; Robertson, NP; Dudbridge, F; Wason, J; De Jager, PL; Hafler, D; Rioux, JD; Ivinson, AJ; McCauley, JL; Pericak-Vance, M; Oksenberg, JR; Hauser, SL; Sexton, D; Haines, J; Sawcer, S; Compston, A,期刊：European Journal of Human Genetics, 页码：1309-1313 , 文章类型： Article，,卷期：2009年17-10]
- In a recent genome-wide association study (GWAS) based on 12 374 non-synonymous single nucleotide polymorphisms we identified a number of candidate multiple sclerosis susceptibility genes. Here, we describe the extended ...
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