- Genetic variants in the BDNF gene and therapeutic response to risperidone in schizophrenia patients: a pharmacogenetic study
[作者:Xu, MQ; Li, S; Xing, QH; Gao, R; Feng, GY; Lin, ZG; St Clair, D; He, L,期刊:European Journal of Human Genetics, 页码:707-712 , 文章类型: Article,,卷期:2010年18-6]
- Risperidone is a widely used atypical antipsychotic agent that produces considerable interindividual differences in patient response. We investigated the pharmacogenetic relationship between the brain-derived neurotrophi...
- Polymorphisms in the sialic acid-binding immunoglobulin-like lectin-8 (Siglec-8) gene are associated with susceptibility to asthma
[作者:Gao, PS; Shimizu, K; Grant, AV; Rafaels, N; Zhou, LF; Hudson, SA; Konno, S; Zimmermann, N; Araujo, MI; Ponte, EV; Cruz, AA; Nishimura, M; Su, SN; Hizawa, N; Beaty, TH; Mathias, RA; Rothenberg, ME; Barnes, KC; Bochner, BS,期刊:European Journal of Human Genetics, 页码:713-719 , 文章类型: Article,,卷期:2010年18-6]
- Sialic acid-binding immunoglobulin-like lectin-8 (Siglec-8) promotes the apoptosis of eosinophils and inhibits Fc epsilon RI-dependent mediator release from mast cells. We investigated the genetic association between seq...
- Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations
[作者:Ingersoll, RG; Hetmanski, J; Park, JW; Fallin, MD; McIntosh, I; Wu-Chou, YH; Chen, PK; Yeow, V; Chong, SS; Cheah, F; Sull, JW; Jee, SH; Wang, H; Wu, T; Murray, T; Huang, SZ; Ye, XQ; Jabs, EW; Redett, R; Raymond, G; Scott, AF; Beaty, TH,期刊:European Journal of Human Genetics, 页码:726-732 , 文章类型: Article,,卷期:2010年18-6]
- Isolated cleft lip with or without cleft palate and cleft palate are among the most common human birth defects. Several candidate gene studies on MSX1 have shown significant association between markers in MSX1 and risk o...
- Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS
[作者:Farooq, M; Troelsen, JT; Boyd, M; Eiberg, H; Hansen, L; Hussain, MS; Rehman, SU; Azhar, A; Ali, A; Bakhtiar, SM; Tommerup, N; Baig, SM; Kjaer, KW,期刊:European Journal of Human Genetics, 页码:733-736 , 文章类型: Article,,卷期:2010年18-6]
- A cis-regulatory sequence also known as zone of polarizing activity (ZPA) regulatory sequence (ZRS) located in intron 5 of LMBR1 is essential for expression of sonic hedgehog (SHH) in the developing posterior limb bud me...
- A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H
[作者:Bisceglia, L; Zoccolella, S; Torraco, A; Piemontese, MR; Dell'Aglio, R; Amati, A; De Bonis, P; Artuso, L; Copetti, M; Santorelli, FM; Serlenga, L; Zelante, L; Bertini, E; Petruzzella, V,期刊:European Journal of Human Genetics, 页码:636-641 , 文章类型: Article,,卷期:2010年18-6]
- Limb-girdle muscular dystrophies (LGMDs) are a genetically heterogeneous group of neuromuscular disorders with a selective or predominant involvement of shoulder and pelvic girdles. We clinically examined 19 members in a...
- Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I
[作者:Rauch, F; Lalic, L; Roughley, P; Glorieux, FH,期刊:European Journal of Human Genetics, 页码:642-647 , 文章类型: Article,,卷期:2010年18-6]
- Osteogenesis imperfecta (OI) is a heritable disorder with bone fragility that is often associated with short stature, tooth abnormalities (dentinogenesis imperfecta), and blue sclera. The most common mutations associated...
- Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci
[作者:Turner, CLS; Mackay, DM; Callaway, JLA; Docherty, LE; Poole, RL; Bullman, H; Lever, M; Castle, BM; Kivuva, EC; Turnpenny, PD; Mehta, SG; Mansour, S; Wakeling, EL; Mathew, V; Madden, J; Davies, JH; Temple, IK,期刊:European Journal of Human Genetics, 页码:648-655 , 文章类型: Article,,卷期:2010年18-6]
- This study was an investigation of 79 patients referred to the Wessex Regional Genetics Laboratory with suspected Russell Silver Syndrome or unexplained short stature/intra uterine growth restriction, warranting genetic ...
- An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance
[作者:Kuechler, A; Hauffa, BP; Koninger, A; Kleinau, G; Albrecht, B; Horsthemke, B; Gromoll, J,期刊:European Journal of Human Genetics, 页码:656-661 , 文章类型: Article,,卷期:2010年18-6]
- Follicle-stimulating hormone (FSH) mediated by its receptor (FSHR) is pivotal for normal gametogenesis. Inactivating FSHR mutations are known to cause hypergonadotropic hypogonadism with disturbed follicular maturation i...
- Mammary-digital-nail (MDN) syndrome: a novel phenotype maps to human chromosome 22q12.3-13.1
[作者:Genzer-Nir, M; Khayat, M; Kogan, L; Cohen, HI; Hershkowitz, M; Geiger, D; Falik-Zaccai, TC,期刊:European Journal of Human Genetics, 页码:662-667 , 文章类型: Article,,卷期:2010年18-6]
- Mammary-digital-nail syndrome is a novel phenotypic association consisting of anonychia onychodystrophy with hypoplasia or absence of distal phalanges in males and females, accompanied by juvenile hypertrophy of the brea...
- Dyslexia and DCDC2: normal variation in reading and spelling is associated with DCDC2 polymorphisms in an Australian population sample
[作者:Lind, PA; Luciano, M; Wright, MJ; Montgomery, GW; Martin, NG; Bates, TC,期刊:European Journal of Human Genetics, 页码:668-673 , 文章类型: Article,,卷期:2010年18-6]
- The 6p21-p22 chromosomal region has been identified as a developmental dyslexia locus both in linkage and association studies, the latter generating evidence for the doublecortin domain containing 2 (DCDC2) as a candidat...
- Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis
[作者:Sparrow, DB; Sillence, D; Wouters, MA; Turnpenny, PD; Dunwoodie, SL,期刊:European Journal of Human Genetics, 页码:674-679 , 文章类型: Article,,卷期:2010年18-6]
- Spondylocostal dysostosis (SCD) is an inherited disorder with abnormal vertebral segmentation that results in extensive hemivertebrae, truncal shortening and abnormally aligned ribs. It arises during embryonic developmen...
- Use of a modeling framework to evaluate the effect of a modifier gene (MBL2) on variation in cystic fibrosis
[作者:McDougal, KE; Green, DM; Vanscoy, LL; Fallin, MD; Grow, M; Cheng, S; Blackman, SM; Collaco, JM; Henderson, LB; Naughton, K; Cutting, GR,期刊:European Journal of Human Genetics, 页码:680-684 , 文章类型: Article,,卷期:2010年18-6]
- Variants in mannose-binding lectin (MBL2; protein MBL) have shown association with different aspects (eg, lung function, infection, survival) of cystic fibrosis (CF) in some studies but not others. Inconsistent results m...
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