- Improving pharmacovigilance in Europe: TPMT genotyping and phenotyping in the UK and Spain
[作者：Gurwitz, D; Rodriguez-Antona, C; Payne, K; Newman, W; Gisbert, JP; de Mesa, EG; Ibarreta, D,期刊：European Journal of Human Genetics, 页码：991-998 , 文章类型： Article，,卷期：2009年17-8]
- Thiopurine S-methyltransferase (TPMT) is the rate-limiting step in the conversion of thiopurine drugs including azathioprine (AZA) to inactive metabolites. Heritable deficiency of TPMT activity increases risk for adverse...
- Preconceptional ancestry-based carrier couple screening for cystic fibrosis and haemoglobinopathies: what determines the intention to participate or not and actual participation?
[作者：Lakeman, P; Plass, AMC; Henneman, L; Bezemer, PD; Cornel, MC; ten Kate, LP,期刊：European Journal of Human Genetics, 页码：999-1009 , 文章类型： Article，,卷期：2009年17-8]
- This paper explores determinants of the intention to participate or not and of actual participation in preconceptional ancestry-based carrier couple screening for cystic fibrosis ( CF) and haemoglobinopathies ( HbPs). In...
- Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development
[作者：Zhang, LT; Tumer, Z; Mollgard, K; Barbi, G; Rossier, E; Bendsen, E; Moller, RS; Ullmann, R; He, J; Papadopoulos, N; Tommerup, N; Larsen, LA,期刊：European Journal of Human Genetics, 页码：1010-1018 , 文章类型： Article，,卷期：2009年17-8]
- The chromosome break points of the t(8;21)(q21.3;q22.12) translocation associated with acute myeloid leukemia disrupt the RUNX1 gene ( also known as AML1) and the RUNX1T1 gene ( also known as CBFA2T3, MTG8 and ETO) and g...
- Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis
[作者：Lebre, AS; Moriniere, V; Dunand, O; Bensman, A; Morichon-Delvallez, N; Antignac, C,期刊：European Journal of Human Genetics, 页码：1019-1023 , 文章类型： Article，,卷期：2009年17-8]
- We report maternal uniparental disomy of chromosome 17 ( mat UPD17) in a 2.5-year-old girl presenting infantile cystinosis. This patient was homozygous for the 57 kb deletion encompassing the CTNS gene, frequently found ...
- Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1-q14.2
[作者：David, D; Marques, B; Ferreira, C; Vieira, P; Corona-Rivera, A; Ferreira, JC; van Bokhoven, H,期刊：European Journal of Human Genetics, 页码：1024-1033 , 文章类型： Article，,卷期：2009年17-8]
- Split hand-split foot malformation or ectrodactyly is a heterogeneous congenital defect of digit formation. The aim of this study is the mapping of the breakpoints and a detailed molecular characterization of the candida...
- Chromosome 13q13-q14 locus overlaps mood and psychotic disorders: the relevance for redefining phenotype
[作者：Maziade, M; Chagnon, YC; Roy, MA; Bureau, A; Fournier, A; Merette, C,期刊：European Journal of Human Genetics, 页码：1034-1042 , 文章类型： Article，,卷期：2009年17-8]
- The nosology of major psychoses is challenged by the findings that schizophrenia (SZ) and bipolar disorder (BP) share several neurobiological, neuropsychological and clinical phenotypic characteristics. Moreover, several...
- Two British women studies replicated the association between the Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) and BMI
[作者：Shugart, YY; Chen, L; Day, INM; Lewis, SJ; Timpson, NJ; Yuan, W; Abdollahi, MR; Ring, SM; Ebrahim, S; Golding, J; Lawlor, DA; Davey-Smith, G,期刊：European Journal of Human Genetics, 页码：1050-1055 , 文章类型： Article，,卷期：2009年17-8]
- The goal of this study is to investigate the relationship between the Val66Met polymorphism in the brain-derived neurotrophic factor ( BDNF) and body mass index ( BMI) in two sizable and well-characterized populations of...
- Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study
[作者：Reiling, E; van Vliet-Ostaptchouk, JV; van't Riet, E; van Haeften, TW; Arp, PA; Hansen, T; Kremer, D; Groenewoud, MJ; van Hove, EC; Romijn, JA; Smit, JWA; Nijpels, G; Heine, RJ; Uitterlinden, AG; Pedersen, O; Slagboom, PE; Maassen, JA; Hofker, MH; 't Hart, LM; Dekker, JM,期刊：European Journal of Human Genetics, 页码：1056-1062 , 文章类型： Article，,卷期：2009年17-8]
- Mitochondria play an important role in many processes, like glucose metabolism, fatty acid oxidation and ATP synthesis. In this study, we aimed to identify association of common polymorphisms in nuclear-encoded genes inv...
- Novel promoter and exon mutations of the BMPR2 gene in Chinese patients with pulmonary arterial hypertension
[作者：Wang, H; Li, W; Zhang, WL; Sun, K; Song, XD; Gao, S; Zhang, CN; Hui, RT; Hu, H,期刊：European Journal of Human Genetics, 页码：1063-1069 , 文章类型： Article，,卷期：2009年17-8]
- Pulmonary arterial hypertension ( PAH), which is clinically characterized by a sustained elevation in mean pulmonary artery pressure leading to significant morbidity and mortality, is caused by intense remodeling of smal...
- Predicting human height by Victorian and genomic methods
[作者：Aulchenko, YS; Struchalin, MV; Belonogova, NM; Axenovich, TI; Weedon, MN; Hofman, A; Uitterlinden, AG; Kayser, M; Oostra, BA; van Duijn, CM; Janssens, ACJW; Borodin, PM,期刊：European Journal of Human Genetics, 页码：1070-1075 , 文章类型： Article，,卷期：2009年17-8]
- In the Victorian era, Sir Francis Galton showed that 'when dealing with the transmission of stature from parents to children, the average height of the two parents, ... is all we need care to know about them' ( 1886). On...
- A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness
[作者：Megarbane, A; Slim, R; Nurnberg, G; Ebermann, I; Nurnberg, P; Bolz, HJ,期刊：European Journal of Human Genetics, 页码：1076-1079 , 文章类型： Article，,卷期：2009年17-8]
- We have earlier described a syndrome characterized by microcephaly, cutis verticis gyrata, retinitis pigmentosa, cataracts, hearing loss and mental retardation ( Mendelian inheritance in man ( MIM) no: 605685) in two bro...
- Allelic heterogeneity of G6PD deficiency in West Africa and severe malaria susceptibility
[作者：Clark, TG; Fry, AE; Auburn, S; Campino, S; Diakite, M; Green, A; Richardson, A; Teo, YY; Small, K; Wilson, J; Jallow, M; Sisay-Joof, F; Pinder, M; Sabeti, P; Kwiatkowski, DP; Rockett, KA,期刊：European Journal of Human Genetics, 页码：1080-1085 , 文章类型： Article，,卷期：2009年17-8]
- Several lines of evidence link glucose-6-phosphate dehydrogenase ( G6PD) deficiency to protection from severe malaria. Early reports suggested most G6PD deficiency in sub-Saharan Africa was because of the 202A/376G G6PD ...
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