| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A case-control analysis of common variants in GIP with type 2 diabetes and related biochemical parameters in a South Indian population
|
Sugunan, Divya
|
|
2010
|
11 |
1 |
|
artikel
|
| 2 |
Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study
|
Ariza, María-José
|
|
2010
|
11 |
1 |
|
artikel
|
| 3 |
A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation
|
Abu-Amero, Khaled K
|
|
2010
|
11 |
1 |
|
artikel
|
| 4 |
Adult case of partial trisomy 9q
|
Tiong, Keith
|
|
2010
|
11 |
1 |
|
artikel
|
| 5 |
A gene-wide investigation on polymorphisms in the taste receptor 2R14 (TAS2R14) and susceptibility to colorectal cancer
|
Campa, Daniele
|
|
2010
|
11 |
1 |
|
artikel
|
| 6 |
Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population
|
Douroudis, Konstantinos
|
|
2010
|
11 |
1 |
|
artikel
|
| 7 |
Allelic variants of IL1R1 gene associate with severe hand osteoarthritis
|
Näkki, Annu
|
|
2010
|
11 |
1 |
|
artikel
|
| 8 |
A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level
|
Pattaro, Cristian
|
|
2010
|
11 |
1 |
|
artikel
|
| 9 |
Analyses of association between PPAR gamma and EPHX1 polymorphisms and susceptibility to COPD in a Hungarian cohort, a case-control study
|
Penyige, Andras
|
|
2010
|
11 |
1 |
|
artikel
|
| 10 |
A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family
|
Bai, Haihua
|
|
2010
|
11 |
1 |
|
artikel
|
| 11 |
A novel germline PALB2 deletion in Polish breast and ovarian cancer patients
|
Dansonka-Mieszkowska, Agnieszka
|
|
2010
|
11 |
1 |
|
artikel
|
| 12 |
A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0
|
Soggia, Ana Priscila
|
|
2010
|
11 |
1 |
|
artikel
|
| 13 |
A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32
|
Hattersley, Kathryn
|
|
2010
|
11 |
1 |
|
artikel
|
| 14 |
A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers
|
Olsson, Malin
|
|
2010
|
11 |
1 |
|
artikel
|
| 15 |
Application of a target array Comparative Genomic Hybridization to prenatal diagnosis
|
Park, Ji Hyeon
|
|
2010
|
11 |
1 |
|
artikel
|
| 16 |
A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families
|
Cuadrado-Corrales, Natividad
|
|
2010
|
11 |
1 |
|
artikel
|
| 17 |
A six-generation Chinese family in haplogroup B4C1C exhibits high penetrance of 1555A > G-induced hearing Loss
|
Bai, Yan
|
|
2010
|
11 |
1 |
|
artikel
|
| 18 |
A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient
|
Shahid, Mohammad
|
|
2010
|
11 |
1 |
|
artikel
|
| 19 |
Association analysis of nine candidate gene polymorphisms in Indian patients with type 2 diabetic retinopathy
|
Balasubbu, Suganthalakshmi
|
|
2010
|
11 |
1 |
|
artikel
|
| 20 |
Association and interaction of PPAR-complex gene variants with latent traits of left ventricular diastolic function
|
Juang, Jyh-Ming Jimmy
|
|
2010
|
11 |
1 |
|
artikel
|
| 21 |
Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis
|
Xiong, Hui-Ling
|
|
2010
|
11 |
1 |
|
artikel
|
| 22 |
Association of CACNG6 polymorphisms with aspirin-intolerance asthmatics in a Korean population
|
Lee, Jin Sol
|
|
2010
|
11 |
1 |
|
artikel
|
| 23 |
Association of IL1A and IL1B loci with primary open angle glaucoma
|
Mookherjee, Suddhasil
|
|
2010
|
11 |
1 |
|
artikel
|
| 24 |
Association of MMP - 12 polymorphisms with severe and very severe COPD: A case control study of MMPs - 1, 9 and 12 in a European population
|
Haq, Imran
|
|
2010
|
11 |
1 |
|
artikel
|
| 25 |
Association of Nrf2-encoding NFE2L2 haplotypes with Parkinson's disease
|
von Otter, Malin
|
|
2010
|
11 |
1 |
|
artikel
|
| 26 |
Association of obesity risk SNPs in PCSK1 with insulin sensitivity and proinsulin conversion
|
Heni, Martin
|
|
2010
|
11 |
1 |
|
artikel
|
| 27 |
Association of the apolipoprotein A5 gene -1131 T>C polymorphism with fasting blood lipids: a meta-analysis in 37859 subjects
|
Zhao, Tongfeng
|
|
2010
|
11 |
1 |
|
artikel
|
| 28 |
Association of the eNOS E298D polymorphism and the risk of myocardial infarction in the Greek population
|
Dafni, Chaido
|
|
2010
|
11 |
1 |
|
artikel
|
| 29 |
Association of the genetic polymorphisms of the ACE gene and the eNOS gene with lupus nephropathy in northern Chinese population
|
Li, X
|
|
2010
|
11 |
1 |
|
artikel
|
| 30 |
Association of the rs738409 polymorphism in PNPLA3 with liver damage and the development of nonalcoholic fatty liver disease
|
Hotta, Kikuko
|
|
2010
|
11 |
1 |
|
artikel
|
| 31 |
Associations between genetic variations in the FURIN gene and hypertension
|
Li, Nanfang
|
|
2010
|
11 |
1 |
|
artikel
|
| 32 |
Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population
|
Lin, Ying
|
|
2010
|
11 |
1 |
|
artikel
|
| 33 |
Asthma-susceptibility variants identified using probands in case-control and family-based analyses
|
Himes, Blanca E
|
|
2010
|
11 |
1 |
|
artikel
|
| 34 |
A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations
|
Yamada, Kenichiro
|
|
2010
|
11 |
1 |
|
artikel
|
| 35 |
Caspase-1 genetic variation is not associated with Alzheimer's disease risk
|
Vázquez-Higuera, José Luis
|
|
2010
|
11 |
1 |
|
artikel
|
| 36 |
Chromosomal abnormalities in spontaneous abortion after assisted reproductive treatment
|
Kim, Ji Won
|
|
2010
|
11 |
1 |
|
artikel
|
| 37 |
Chromosome 7p linkage and association study for diabetes related traits and type 2 diabetes in an African-American population enriched for nephropathy
|
Leak, Tennille S
|
|
2010
|
11 |
1 |
|
artikel
|
| 38 |
Common genetic variants on chromosome 9p21 are associated with myocardial infarction and type 2 diabetes in an Italian population
|
Gori, Francesca
|
|
2010
|
11 |
1 |
|
artikel
|
| 39 |
Common genetic variation in the Estrogen Receptor Beta (ESR2) gene and osteoarthritis: results of a meta-analysis
|
Kerkhof, Hanneke JM
|
|
2010
|
11 |
1 |
|
artikel
|
| 40 |
Common polymorphisms of calpain-10 and the risk of Type 2 Diabetes in a Tunisian Arab population: a case-control study
|
Ezzidi, Intissar
|
|
2010
|
11 |
1 |
|
artikel
|
| 41 |
Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility
|
Formicola, Daniela
|
|
2010
|
11 |
1 |
|
artikel
|
| 42 |
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis
|
Ferlini, Alessandra
|
|
2010
|
11 |
1 |
|
artikel
|
| 43 |
CXCR1 and SLC11A1 polymorphisms affect susceptibility to cutaneous leishmaniasis in Brazil: a case-control and family-based study
|
Castellucci, Léa
|
|
2010
|
11 |
1 |
|
artikel
|
| 44 |
Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study
|
Teeuw, Marieke E
|
|
2010
|
11 |
1 |
|
artikel
|
| 45 |
Dopamine D2 receptor polymorphisms and susceptibility to alcohol dependence in Indian males: a preliminary study
|
Prasad, Pushplata
|
|
2010
|
11 |
1 |
|
artikel
|
| 46 |
EEG alpha phenotypes: linkage analyses and relation to alcohol dependence in an American Indian community study
|
Ehlers, Cindy L
|
|
2010
|
11 |
1 |
|
artikel
|
| 47 |
Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts
|
Whiley, Phillip J
|
|
2010
|
11 |
1 |
|
artikel
|
| 48 |
Effect of the rs2259816 polymorphism in the HNF1A gene on circulating levels of c-reactive protein and coronary artery disease (the ludwigshafen risk and cardiovascular health study)
|
Kleber, Marcus E
|
|
2010
|
11 |
1 |
|
artikel
|
| 49 |
Effect of TNF-α genetic variants and CCR5Δ32 on the vulnerability to HIV-1 infection and disease progression in Caucasian Spaniards
|
Veloso, Sergi
|
|
2010
|
11 |
1 |
|
artikel
|
| 50 |
Effects of MCF2L2, ADIPOQ and SOX2 genetic polymorphisms on the development of nephropathy in type 1 Diabetes Mellitus
|
Zhang, Dongying
|
|
2010
|
11 |
1 |
|
artikel
|
| 51 |
E-selectin gene polymorphisms are associated with essential hypertension: a case-control pilot study in a Chinese population
|
Wang, Zuoguang
|
|
2010
|
11 |
1 |
|
artikel
|
| 52 |
Essential role of the N-terminal region of TFII-I in viability and behavior
|
Lucena, Jaume
|
|
2010
|
11 |
1 |
|
artikel
|
| 53 |
Estrogen Receptor-Beta Gene Polymorphism in women with Breast Cancer at the Imam Khomeini Hospital Complex, Iran
|
Abbasi, Sakineh
|
|
2010
|
11 |
1 |
|
artikel
|
| 54 |
Evaluating gene by sex and age interactions on cardiovascular risk factors in Brazilian families
|
Giolo, Suely R
|
|
2010
|
11 |
1 |
|
artikel
|
| 55 |
Evaluation of 6 candidate genes on chromosome 11q23 for coeliac disease susceptibility: a case control study
|
Brophy, Karen
|
|
2010
|
11 |
1 |
|
artikel
|
| 56 |
Evaluation of DOK5 as a susceptibility gene for type 2 diabetes and obesity in North Indian population
|
Tabassum, Rubina
|
|
2010
|
11 |
1 |
|
artikel
|
| 57 |
Exploring multilocus associations of inflammation genes and colorectal cancer risk using hapConstructor
|
Curtin, Karen
|
|
2010
|
11 |
1 |
|
artikel
|
| 58 |
Fibrinogen beta variants confer protection against coronary artery disease in a Greek case-control study
|
Theodoraki, Eirini V
|
|
2010
|
11 |
1 |
|
artikel
|
| 59 |
FOXP2 gene and language impairment in schizophrenia: association and epigenetic studies
|
Tolosa, Amparo
|
|
2010
|
11 |
1 |
|
artikel
|
| 60 |
Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature
|
Truong, Hoa T
|
|
2010
|
11 |
1 |
|
artikel
|
| 61 |
Frequency of Fabry disease in male and female haemodialysis patients in Spain
|
Gaspar, Paulo
|
|
2010
|
11 |
1 |
|
artikel
|
| 62 |
FTO variant rs9939609 is associated with body mass index and waist circumference, but not with energy intake or physical activity in European- and African-American youth
|
Liu, Gaifen
|
|
2010
|
11 |
1 |
|
artikel
|
| 63 |
Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY)
|
Boesgaard, Trine W
|
|
2010
|
11 |
1 |
|
artikel
|
| 64 |
Gene polymorphisms in association with emerging cardiovascular risk markers in adult women
|
Fan, Amy Z
|
|
2010
|
11 |
1 |
|
artikel
|
| 65 |
Generation Scotland: Donor DNA Databank; A control DNA resource
|
Kerr, Shona M
|
|
2010
|
11 |
1 |
|
artikel
|
| 66 |
Genes encoding critical transcriptional activators for murine neural tube development and human spina bifida: a case-control study
|
Lu, Wei
|
|
2010
|
11 |
1 |
|
artikel
|
| 67 |
Genetic evidence of multiple loci in dystocia - difficult labour
|
Algovik, Michael
|
|
2010
|
11 |
1 |
|
artikel
|
| 68 |
Genetic investigations on 8 patients affected by ring 20 chromosome syndrome
|
Giardino, Daniela
|
|
2010
|
11 |
1 |
|
artikel
|
| 69 |
Genetic modifiers of Hb E/β0 thalassemia identified by a two-stage genome-wide association study
|
Sherva, Richard
|
|
2010
|
11 |
1 |
|
artikel
|
| 70 |
Genetic polymorphisms in MDR1, CYP3A4 and CYP3A5 genes in a Ghanaian population: a plausible explanation for altered metabolism of ivermectin in humans?
|
Kudzi, William
|
|
2010
|
11 |
1 |
|
artikel
|
| 71 |
Genetic polymorphisms in the endothelial nitric oxide synthase gene correlate with overall survival in advanced non-small-cell lung cancer patients treated with platinum-based doublet chemotherapy
|
Fujita, Shiro
|
|
2010
|
11 |
1 |
|
artikel
|
| 72 |
Genetic selection? A study of individual variation in the enzymes of folate metabolism
|
Jennings, Barbara A
|
|
2010
|
11 |
1 |
|
artikel
|
| 73 |
Genetic testing of newborns for type 1 diabetes susceptibility: a prospective cohort study on effects on maternal mental health
|
Aas, Kaja K
|
|
2010
|
11 |
1 |
|
artikel
|
| 74 |
Genetic variants associated with fasting blood lipids in the U.S. population: Third National Health and Nutrition Examination Survey
|
Chang, Man-huei
|
|
2010
|
11 |
1 |
|
artikel
|
| 75 |
Genetic variants in mannose receptor gene (MRC1) confer susceptibility to increased risk of sarcoidosis
|
Hattori, Takeshi
|
|
2010
|
11 |
1 |
|
artikel
|
| 76 |
Genetic variants in the TIRAP gene are associated with increased risk of sepsis-associated acute lung injury
|
Song, Zhenju
|
|
2010
|
11 |
1 |
|
artikel
|
| 77 |
Genome-wide association analysis of total cholesterol and high-density lipoprotein cholesterol levels using the Framingham Heart Study data
|
Ma, Li
|
|
2010
|
11 |
1 |
|
artikel
|
| 78 |
Genome wide screen identifies microsatellite markers associated with acute adverse effects following radiotherapy in cancer patients
|
Michikawa, Yuichi
|
|
2010
|
11 |
1 |
|
artikel
|
| 79 |
Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia
|
Goldmann, Radan
|
|
2010
|
11 |
1 |
|
artikel
|
| 80 |
Glucocorticoid receptor gene polymorphisms do not affect growth in fetal and early postnatal life. The Generation R Study
|
Geelhoed, Miranda JJ
|
|
2010
|
11 |
1 |
|
artikel
|
| 81 |
Glutathione S-Transferase P1 (GSTP1) gene polymorphism increases age-related susceptibility to hepatocellular carcinoma
|
Chen, Yao-Li
|
|
2010
|
11 |
1 |
|
artikel
|
| 82 |
Haplotypes of intron 4 of the estrogen receptor alpha gene and hip fractures: a replication study in Caucasians
|
Velasco, Javier
|
|
2010
|
11 |
1 |
|
artikel
|
| 83 |
Health status in patients at risk of inherited arrhythmias and sudden unexpected death compared to the general population
|
Hamang, Anniken
|
|
2010
|
11 |
1 |
|
artikel
|
| 84 |
Hereditary Hemochromatosis (HFE) genotypes in heart failure: Relation to etiology and prognosis
|
Møller, Daniel V
|
|
2010
|
11 |
1 |
|
artikel
|
| 85 |
High frequency of Machado-Joseph disease identified in Southeastern Chinese kindreds with spinocerebellar ataxia
|
Gan, Shi-Rui
|
|
2010
|
11 |
1 |
|
artikel
|
| 86 |
High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients
|
Papp, Janos
|
|
2010
|
11 |
1 |
|
artikel
|
| 87 |
Hypervariable intronic region in NCX1 is enriched in short insertion-deletion polymorphisms and showed association with cardiovascular traits
|
Kepp, Katrin
|
|
2010
|
11 |
1 |
|
artikel
|
| 88 |
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies
|
Bovolenta, Matteo
|
|
2010
|
11 |
1 |
|
artikel
|
| 89 |
Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa
|
Huang, Yukan
|
|
2010
|
11 |
1 |
|
artikel
|
| 90 |
Impact of gene variants on sex-specific regulation of human Scavenger receptor class B type 1 (SR-BI) expression in liver and association with lipid levels in a population-based study
|
Chiba-Falek, Ornit
|
|
2010
|
11 |
1 |
|
artikel
|
| 91 |
Implication of genetic variants near SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, FTO, TCF2, KCNQ1, and WFS1 in Type 2 Diabetes in a Chinese population
|
Han, Xueyao
|
|
2010
|
11 |
1 |
|
artikel
|
| 92 |
Important role of indels in somatic mutations of human cancer genes
|
Yang, Haiwang
|
|
2010
|
11 |
1 |
|
artikel
|
| 93 |
Inflammation gene variants and susceptibility to albuminuria in the U.S. population: analysis in the Third National Health and Nutrition Examination Survey (NHANES III), 1991-1994
|
Ned, Renée M
|
|
2010
|
11 |
1 |
|
artikel
|
| 94 |
Interaction of functional NPC1 gene Polymorphism with smoking on coronary heart disease
|
Ma, Weiwei
|
|
2010
|
11 |
1 |
|
artikel
|
| 95 |
Is Lamarckian evolution relevant to medicine?
|
Handel, Adam E
|
|
2010
|
11 |
1 |
|
artikel
|
| 96 |
Lack of association between the GRP78 polymorphisms in the promoter and 3' UTR and susceptibility to chronic HBV infection in a Chinese Han population
|
Zhu, Xiao
|
|
2010
|
11 |
1 |
|
artikel
|
| 97 |
Lack of association of the CIITA -168A→G promoter SNP with myasthenia gravis and its role in autoimmunity
|
Ramanujam, Ryan
|
|
2010
|
11 |
1 |
|
artikel
|
| 98 |
Large effects on body mass index and insulin resistance of fat mass and obesity associated gene (FTO) variants in patients with polycystic ovary syndrome (PCOS)
|
Tan, Susanne
|
|
2010
|
11 |
1 |
|
artikel
|
| 99 |
Large-scale association analysis of TNF/LTA gene region polymorphisms in type 2 diabetes
|
Boraska, Vesna
|
|
2010
|
11 |
1 |
|
artikel
|
| 100 |
Leptin receptor (LEPR) SNP polymorphisms in HELLP syndrome patients determined by quantitative real-time PCR and melting curve analysis
|
Várkonyi, Tibor
|
|
2010
|
11 |
1 |
|
artikel
|
| 101 |
LINE-1 methylation is inherited in familial testicular cancer kindreds
|
Mirabello, Lisa
|
|
2010
|
11 |
1 |
|
artikel
|
| 102 |
Linkage analysis of obesity phenotypes in pre- and post-menopausal women from a United States mid-western population
|
Kelemen, Linda E
|
|
2010
|
11 |
1 |
|
artikel
|
| 103 |
Loss of balancing selection in the βS globin locus
|
Salih, Niven A
|
|
2010
|
11 |
1 |
|
artikel
|
| 104 |
Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD
|
Okizuka, Yo
|
|
2010
|
11 |
1 |
|
artikel
|
| 105 |
Low penetrance of a SDHB mutation in a large Dutch paraganglioma family
|
Hes, Frederik J
|
|
2010
|
11 |
1 |
|
artikel
|
| 106 |
Mannose-binding lectin genotypes: lack of association with susceptibility to thoracic empyema
|
Chapman, Stephen J
|
|
2010
|
11 |
1 |
|
artikel
|
| 107 |
Maternal angiotensinogen (AGT) haplotypes, fetal renin (REN) haplotypes and risk of preeclampsia; estimation of gene-gene interaction from family-triad data
|
Vefring, Hege K
|
|
2010
|
11 |
1 |
|
artikel
|
| 108 |
Maternal inheritance and mitochondrial DNA variants in familial Parkinson's disease
|
Simon, David K
|
|
2010
|
11 |
1 |
|
artikel
|
| 109 |
Matrix metalloproteinase-9 gene polymorphisms in nasal polyposis
|
Wang, Ling-Feng
|
|
2010
|
11 |
1 |
|
artikel
|
| 110 |
MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families
|
Braathen, Geir J
|
|
2010
|
11 |
1 |
|
artikel
|
| 111 |
Modeling complex genetic and environmental influences on comorbid bipolar disorder with tobacco use disorder
|
McEachin, Richard C
|
|
2010
|
11 |
1 |
|
artikel
|
| 112 |
Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates
|
Ali, Bassam R
|
|
2010
|
11 |
1 |
|
artikel
|
| 113 |
MTNR1B rs10830963 is associated with fasting plasma glucose, HbA1C and impaired beta-cell function in Chinese Hans from Shanghai
|
Liu, Chen
|
|
2010
|
11 |
1 |
|
artikel
|
| 114 |
Mutation analysis of the LCE3B/LCE3C genes in Psoriasis
|
Coto, Eliecer
|
|
2010
|
11 |
1 |
|
artikel
|
| 115 |
Mutation screen and association studies for the fatty acid amide hydrolase (FAAH) gene and early onset and adult obesity
|
Müller, Timo D
|
|
2010
|
11 |
1 |
|
artikel
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| 116 |
Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls
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Delorme, Richard
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2010
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11 |
1 |
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artikel
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| 117 |
Mutations in epidermal growth factor receptor and K-ras in Chinese patients with colorectal cancer
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Yunxia, Zuo
|
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2010
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11 |
1 |
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artikel
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| 118 |
Mutations in epidermal growth factor receptor and K-ras in Chinese patients with colorectal cancer
|
Yunxia, Zuo
|
|
2010
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11 |
1 |
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artikel
|
| 119 |
No association between polymorphisms of WNT2 and schizophrenia in a Korean population
|
Kim, Hak-Jae
|
|
2010
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11 |
1 |
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artikel
|
| 120 |
No association between variation in the NR4A1 gene locus and metabolic traits in white subjects at increased risk for type 2 diabetes
|
Müssig, Karsten
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2010
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11 |
1 |
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artikel
|
| 121 |
No association of the polymorphisms of the frizzled-related protein gene with peak bone mineral density in Chinese nuclear families
|
Gao, Gao
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2010
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11 |
1 |
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artikel
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| 122 |
Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region
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Fernández, Raquel M
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2010
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11 |
1 |
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artikel
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| 123 |
Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency
|
Coeli, Fernanda B
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2010
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11 |
1 |
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artikel
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| 124 |
1Novel MEFV transcripts in Familial Mediterranean fever patients and controls
|
Medlej-Hashim, Myrna
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2010
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11 |
1 |
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artikel
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| 125 |
Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease
|
Sánchez-Mejías, Avencia
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|
2010
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11 |
1 |
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artikel
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| 126 |
Nuclear Factor (NF) κB polymorphism is associated with heart function in patients with heart failure
|
Santos, Diogo GB
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|
2010
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11 |
1 |
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artikel
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| 127 |
Obesity and diabetes genes are associated with being born small for gestational age: Results from the Auckland Birthweight Collaborative study
|
Morgan, Angharad R
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|
2010
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11 |
1 |
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artikel
|
| 128 |
Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family
|
Baasanjav, Sevjidmaa
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|
2010
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11 |
1 |
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artikel
|
| 129 |
PARP-1 Val762Ala polymorphism is associated with reduced risk of non-Hodgkin lymphoma in Korean males
|
Jin, Xue Mei
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|
2010
|
11 |
1 |
|
artikel
|
| 130 |
PedHunter 2.0 and its usage to characterize the founder structure of the Old Order Amish of Lancaster County
|
Lee, Woei-Jyh
|
|
2010
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11 |
1 |
|
artikel
|
| 131 |
Pitfalls in mutational testing and reporting of common KIT and PDGFRA mutations in gastrointestinal stromal tumors
|
Merkelbach-Bruse, Sabine
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|
2010
|
11 |
1 |
|
artikel
|
| 132 |
Polymorphism of SERPINE2 gene is associated with pulmonary emphysema in consecutive autopsy cases
|
Fujimoto, Koichi
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|
2010
|
11 |
1 |
|
artikel
|
| 133 |
Polymorphisms in IL-1β, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis
|
Motsinger-Reif, Alison A
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|
2010
|
11 |
1 |
|
artikel
|
| 134 |
Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia
|
Wang, Li-San
|
|
2010
|
11 |
1 |
|
artikel
|
| 135 |
Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes
|
Ramsden, Simon C
|
|
2010
|
11 |
1 |
|
artikel
|
| 136 |
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports
|
Audo, Isabelle
|
|
2010
|
11 |
1 |
|
artikel
|
| 137 |
Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India
|
Halder, Ashutosh
|
|
2010
|
11 |
1 |
|
artikel
|
| 138 |
Promoter polymorphism -119C/G in MYG1 (C12orf10) gene is related to vitiligo susceptibility and Arg4Gln affects mitochondrial entrance of Myg1
|
Philips, Mari-Anne
|
|
2010
|
11 |
1 |
|
artikel
|
| 139 |
Quantitative assay for the detection of the V617F variant in the Janus kinase 2 (JAK2) gene using the Luminex xMAP technology
|
Paradis, François W
|
|
2010
|
11 |
1 |
|
artikel
|
| 140 |
Replication of the association of chromosomal region 9p21.3 with generalized aggressive periodontitis (gAgP) using an independent case-control cohort
|
Ernst, Florian D
|
|
2010
|
11 |
1 |
|
artikel
|
| 141 |
SCN5A allelic expression imbalance in African-Americans heterozygous for the common variant p.Ser1103Tyr
|
Killen, Stacy AS
|
|
2010
|
11 |
1 |
|
artikel
|
| 142 |
Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy
|
Rodríguez-García, María Isabel
|
|
2010
|
11 |
1 |
|
artikel
|
| 143 |
Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy
|
Wang, Da-Yong
|
|
2010
|
11 |
1 |
|
artikel
|
| 144 |
Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder
|
Delorme, Richard
|
|
2010
|
11 |
1 |
|
artikel
|
| 145 |
Sequencing of DC-SIGN promoter indicates an association between promoter variation and risk of nasopharyngeal carcinoma in cantonese
|
Xu, Ya-Fei
|
|
2010
|
11 |
1 |
|
artikel
|
| 146 |
Sex-differential genetic effect of phosphodiesterase 4D (PDE4D) on carotid atherosclerosis
|
Liao, Yi-Chu
|
|
2010
|
11 |
1 |
|
artikel
|
| 147 |
Significant association between polymorphism of the erythropoietin gene promoter and myelodysplastic syndrome
|
Ma, Wanlong
|
|
2010
|
11 |
1 |
|
artikel
|
| 148 |
SLC2A10 genetic polymorphism predicts development of peripheral arterial disease in patients with type 2 diabetes. SLC2A10 and PAD in type 2 diabetes
|
Jiang, Yi-Der
|
|
2010
|
11 |
1 |
|
artikel
|
| 149 |
SNP-SNP interactions dominate the genetic architecture of candidate genes associated with left ventricular mass in african-americans of the GENOA study
|
Meyers, Kristin J
|
|
2010
|
11 |
1 |
|
artikel
|
| 150 |
Study of the serotonin transporter (SLC6A4) and BDNF genes in French patients with non syndromic mental deficiency
|
Tabagh, Refaat
|
|
2010
|
11 |
1 |
|
artikel
|
| 151 |
Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation
|
Wu, Ye
|
|
2010
|
11 |
1 |
|
artikel
|
| 152 |
Suggestive evidence of associations between liver X receptor β polymorphisms with type 2 diabetes mellitus and obesity in three cohort studies: HUNT2 (Norway), MONICA (France) and HELENA (Europe)
|
Solaas, Karianne
|
|
2010
|
11 |
1 |
|
artikel
|
| 153 |
The association of the Clock 3111 T/C SNP with lipids and lipoproteins including small dense low-density lipoprotein: results from the Mima study
|
Tsuzaki, Kokoro
|
|
2010
|
11 |
1 |
|
artikel
|
| 154 |
The common rs9939609 variant of the fat mass and obesity-associated gene is associated with obesity risk in children and adolescents of Beijing, China
|
Xi, Bo
|
|
2010
|
11 |
1 |
|
artikel
|
| 155 |
The CTLA4 variants may interact with the IL23R- and NOD2-conferred risk in development of Crohn's disease
|
Hradsky, Ondrej
|
|
2010
|
11 |
1 |
|
artikel
|
| 156 |
The dopamine β-hydroxylase -1021C/T polymorphism is associated with the risk of Alzheimer's disease in the Epistasis Project
|
Combarros, Onofre
|
|
2010
|
11 |
1 |
|
artikel
|
| 157 |
The G-Protein β3 subunit 825 TT genotype is associated with epigastric pain syndrome-like dyspepsia
|
Oshima, Tadayuki
|
|
2010
|
11 |
1 |
|
artikel
|
| 158 |
The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function
|
Makarov, Roman
|
|
2010
|
11 |
1 |
|
artikel
|
| 159 |
The longitudinal association of common susceptibility variants for type 2 diabetes and obesity with fasting glucose level and BMI
|
Webster, Rebecca J
|
|
2010
|
11 |
1 |
|
artikel
|
| 160 |
The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity
|
Chen, Wanqun
|
|
2010
|
11 |
1 |
|
artikel
|
| 161 |
The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus
|
Keramati, Ali R
|
|
2010
|
11 |
1 |
|
artikel
|
| 162 |
The obesity gene, TMEM18, is of ancient origin, found in majority of neuronal cells in all major brain regions and associated with obesity in severely obese children
|
Almén, Markus Sällman
|
|
2010
|
11 |
1 |
|
artikel
|
| 163 |
The polymorphism rs3024505 proximal to IL-10 is associated with risk of ulcerative colitis and Crohns disease in a Danish case-control study
|
Andersen, Vibeke
|
|
2010
|
11 |
1 |
|
artikel
|
| 164 |
The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature
|
Zhao, Jianhua
|
|
2010
|
11 |
1 |
|
artikel
|
| 165 |
Toll-like receptor gene polymorphisms are associated with susceptibility to graves' ophthalmopathy in Taiwan males
|
Liao, Wen-Ling
|
|
2010
|
11 |
1 |
|
artikel
|
| 166 |
Toll-like receptor 2 gene polymorphisms, pulmonary tuberculosis, and natural killer cell counts
|
Chen, Yung-Che
|
|
2010
|
11 |
1 |
|
artikel
|
| 167 |
Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease
|
Rasmussen, Astrid
|
|
2010
|
11 |
1 |
|
artikel
|
| 168 |
Variable number of tandem repeat polymorphisms of the interleukin-1 receptor antagonist gene IL-1RN: a novel association with the athlete status
|
Cauci, Sabina
|
|
2010
|
11 |
1 |
|
artikel
|
| 169 |
Variant rs9939609 in the FTO gene is associated with body mass index among Chinese children
|
Fang, Hongyun
|
|
2010
|
11 |
1 |
|
artikel
|
| 170 |
Variants of the Matrix Metalloproteinase-2 but not the Matrix Metalloproteinase-9 genes significantly influence functional outcome after stroke
|
Manso, Helena
|
|
2010
|
11 |
1 |
|
artikel
|
| 171 |
WWOX gene is associated with HDL cholesterol and triglyceride levels
|
Sáez, María E
|
|
2010
|
11 |
1 |
|
artikel
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