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                             124 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A case-only study of gene-environment interaction between genetic susceptibility variants in NOD2 and cigarette smoking in Crohn's disease aetiology Helbig, Katherine L
2012
13 1 artikel
2 A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections Xu, Xiu
2012
13 1 artikel
3 Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype Fernandez, Bridget A
2012
13 1 artikel
4 A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population Levesque, Sebastien
2012
13 1 artikel
5 A genome wide association study of pulmonary tuberculosis susceptibility in Indonesians Png, Eileen
2012
13 1 artikel
6 A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death Teirlinck, Carolien H
2012
13 1 artikel
7 Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL3 Ratnayake, Madhushika
2012
13 1 artikel
8 A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion Ali, Bassam R
2012
13 1 artikel
9 A mutation at IVS1 + 5 of the von Hippel-Lindau gene resulting in intron retention in transcripts is not pathogenic in a patient with a tongue cancer?: case report Asakawa, Takeshi
2012
13 1 artikel
10 Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families Bailey-Wilson, Joan E
2012
13 1 artikel
11 An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation Staropoli, John F
2012
13 1 artikel
12 An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3 Bouhouche, Ahmed
2012
13 1 artikel
13 A novel multiplex PCR-RFLP method for simultaneous detection of the MTHFR 677 C > T, eNOS +894 G > T and - eNOS -786 T > C variants among Malaysian Malays Loo, Keat Wei
2012
13 1 artikel
14 A novel SYBR-based duplex qPCR for the detection of gene dosage: detection of an APC large deletion in a familial adenomatous polyposis patient with an unusual phenotype Torrezan, Giovana Tardin
2012
13 1 artikel
15 A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype Hanchard, Neil A
2012
13 1 artikel
16 APOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family Dussaillant, Catalina
2012
13 1 artikel
17 Association between insertion/deletion polymorphism in angiotensin-converting enzyme gene and acute lung injury/acute respiratory distress syndrome: a meta-analysis Matsuda, Akihisa
2012
13 1 artikel
18 Association between polymorphisms in the adiponectin gene and cardiovascular disease: a meta-analysis Zhang, Huan
2012
13 1 artikel
19 Association between XRCC1 polymorphism 399 G->A and glioma among Caucasians: a systematic review and meta-analysis Jacobs, Daniel I
2012
13 1 artikel
20 Association of a bitter taste receptor mutation with Balkan Endemic Nephropathy (BEN) Wooding, Stephen P
2012
13 1 artikel
21 Association of ALOX5AP gene single nucleotide polymorphisms and cerebral infarction in the Han population of northern China Zhang, Shuang-yan
2012
13 1 artikel
22 Association of cytochrome P450 genetic polymorphisms with neoadjuvant chemotherapy efficacy in breast cancer patients Seredina, Tatyana A
2012
13 1 artikel
23 Association of IL-18 polymorphisms with rheumatoid arthritis and systemic lupus erythematosus in Asian populations: a meta-analysis Chen, Shuilian
2012
13 1 artikel
24 Association of polymorphisms in survivin gene with the risk of hepatocellular carcinoma in Chinese han population: a case control study Li, Yuhua
2012
13 1 artikel
25 Association of SELE genotypes/haplotypes with sE-selectin levels in Taiwanese individuals: interactive effect of MMP9 level Wu, Semon
2012
13 1 artikel
26 Association of soluble endothelial protein C receptor plasma levels and PROCR rs867186 with cardiovascular risk factors and cardiovascular events in coronary artery disease patients: The Athero Gene Study Kallel, Choumous
2012
13 1 artikel
27 Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease Lieber, Daniel S
2012
13 1 artikel
28 Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age Murphy, Rinki
2012
13 1 artikel
29 Beta catenin and cytokine pathway dysregulation in patients with manifestations of the "PTEN hamartoma tumor syndrome" Galatola, Martina
2012
13 1 artikel
30 BRCA2 Variants and cardiovascular disease in a multi-ethnic study Zbuk, Kevin
2012
13 1 artikel
31 CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain Maortua, Hiart
2012
13 1 artikel
32 Cheek swabs, SNP chips, and CNVs: Assessing the quality of copy number variant calls generated with subject-collected mail-in buccal brush DNA samples on a high-density genotyping microarray Erickson, Stephen W
2012
13 1 artikel
33 Circulating leukocyte telomere length is highly heritable among families of Arab descent Al-Attas, Omar S
2012
13 1 artikel
34 Computational identification and experimental validation of microRNAs binding to the Alzheimer-related gene ADAM10 Augustin, Regina
2012
13 1 artikel
35 Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual Wierzba, Jolanta
2012
13 1 artikel
36 Cross-pollination of research findings, although uncommon, may accelerate discovery of human disease genes Duda, Marlena
2012
13 1 artikel
37 Data mining of high density genomic variant data for prediction of Alzheimer's disease risk Briones, Natalia
2012
13 1 artikel
38 Deletion of a single-copy DAAM1 gene in congenital heart defect: a case report Bao, Bihui
2012
13 1 artikel
39 1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes De Molfetta, Greice Andreotti
2012
13 1 artikel
40 Dominant optic atrophy in Denmark – report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90% Almind, Gitte J
2012
13 1 artikel
41 Estrogen receptor alpha gene polymorphisms and risk of HBV-related acute liver failure in the Chinese population Yan, Zehui
2012
13 1 artikel
42 Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects Pangilinan, Faith
2012
13 1 artikel
43 Evaluation of single nucleotide polymorphisms in microRNAs (hsa-miR-196a2 rs11614913 C/T) from Brazilian women with breast cancer Linhares, José Juvenal
2012
13 1 artikel
44 Expression analyses of the genes harbored by the type 2 diabetes and pediatric BMI associated locus on 10q23 Zhao, Jianhua
2012
13 1 artikel
45 Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure Bendon, Charlotte L
2012
13 1 artikel
46 Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy Rajkumar, Revathi
2012
13 1 artikel
47 Genetic analyses of smoking initiation, persistence, quantity, and age-at-onset of regular cigarette use in Brazilian families: the Baependi Heart Study Horimoto, Andréa RVR
2012
13 1 artikel
48 Genetic analysis of polymorphisms in the kalirin gene for association with age-at-onset in European Huntington disease patients Tsai, Yu-Chun
2012
13 1 artikel
49 Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype Brioschi, Simona
2012
13 1 artikel
50 Genetic polymorphisms located in genes related to immune and inflammatory processes are associated with end-stage renal disease: a preliminary study Jimenez-Sousa, Ma Angeles
2012
13 1 artikel
51 Genetic variant I148M in PNPLA3 is associated with the ultrasonography-determined steatosis degree in a Chinese population Li, Yiling
2012
13 1 artikel
52 Genetic variants associated with breast size also influence breast cancer risk Eriksson, Nicholas
2012
13 1 artikel
53 Genetic variations in APPL2 are associated with overweight and obesity in a Chinese population with normal glucose tolerance Jiang, Shan
2012
13 1 artikel
54 Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder Hooper, Sean D
2012
13 1 artikel
55 Genotype-phenotype correlation in 22q11.2 deletion syndrome Michaelovsky, Elena
2012
13 1 artikel
56 Genotyping of a tri-allelic polymorphism by a novel melting curve assay in MTHFD1L: an association study of nonsyndromic Cleft in Ireland Minguzzi, Stefano
2012
13 1 artikel
57 High prevalence of Arginine to Glutamine Substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians Rani, Deepa Selvi
2012
13 1 artikel
58 High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort Santos, Susana
2012
13 1 artikel
59 High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results Siggberg, Linda
2012
13 1 artikel
60 Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems Capra, Valeria
2012
13 1 artikel
61 Identification of 3 novel VHL germ-line mutations in Danish VHL patients Dandanell, Mette
2012
13 1 artikel
62 IGF2/H19 hypomethylation in a patient with very low birthweight, preocious pubarche and insulin resistance Murphy, Rinki
2012
13 1 artikel
63 Influence of IL17A polymorphisms on the aberrant methylation of DAPK and CDH1 in non-cancerous gastric mucosa Arisawa, Tomiyasu
2012
13 1 artikel
64 Investigating the relationship between UMODL1 gene polymorphisms and high myopia: a case–control study in Chinese Zhu, Miao-miao
2012
13 1 artikel
65 In-vitro characterization of novel and functional regulatory SNPs in the promoter region of IL2 and IL2R alpha in a Gabonese population Huang, Xiangsheng
2012
13 1 artikel
66 Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report Jamsheer, Aleksander
2012
13 1 artikel
67 Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants Nagel, Bert
2012
13 1 artikel
68 Leukotriene B4 receptor locus gene characterisation and association studies in asthma Tulah, Asif S
2012
13 1 artikel
69 Low prevalence of connexin-40 gene variants in atrial tissues and blood from atrial fibrillation subjects Tchou, Gregory D
2012
13 1 artikel
70 MAOA promoter methylation and susceptibility to carotid atherosclerosis: role of familial factors in a monozygotic twin sample Zhao, Jinying
2012
13 1 artikel
71 Maternal and offspring fasting glucose and type 2 diabetes-associated genetic variants and cognitive function at age 8: a Mendelian randomization study in the Avon Longitudinal Study of Parents and Children Bonilla, Carolina
2012
13 1 artikel
72 MC1R variants predisposing to concomitant primary cutaneous melanoma in a monozygotic twin pair Pellegrini, Cristina
2012
13 1 artikel
73 Methylenetetrahydrofolate reductase C677T polymorphism is associated with estimated glomerular filtration rate in hypertensive Chinese males Dong, Qing
2012
13 1 artikel
74 Methylenetetrahydrofolate Reductase Polymorphisms and Risk of Acute Lymphoblastic Leukemia-Evidence from an updated meta-analysis including 35 studies Wang, Haigang
2012
13 1 artikel
75 Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature Davidson, Tom B
2012
13 1 artikel
76 Molecular diagnosis of putative Stargardt disease probands by exome sequencing Strom, Samuel P
2012
13 1 artikel
77 MUC2 polymorphisms are associated with endometriosis development and infertility: a case-control study Chang, Cherry Yin-Yi
2012
13 1 artikel
78 Multi-locus stepwise regression: a haplotype-based algorithm for finding genetic associations applied to atopic dermatitis Knüppel, Sven
2012
13 1 artikel
79 Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity Korvala, Johanna
2012
13 1 artikel
80 Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation Olesen, Morten S
2012
13 1 artikel
81 No association for Chinese HBV-related hepatocellular carcinoma susceptibility SNP in other East Asian populations Sawai, Hiromi
2012
13 1 artikel
82 No Association of nineteenCOX-2 gene variants to preclinical markers of atherosclerosis The Cardiovascular Risk in Young Finns Study Lähteelä, Kati
2012
13 1 artikel
83 Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions Mußotter, Tanja
2012
13 1 artikel
84 Non-replication study of a genome-wide association study for hypertension and blood pressure in African Americans Kidambi, Srividya
2012
13 1 artikel
85 Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I) Khan, Tahir Naeem
2012
13 1 artikel
86 Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux Khan, Saadullah
2012
13 1 artikel
87 Patient accounts of diagnostic testing for familial hypercholesterolaemia: comparing responses to genetic and non-genetic testing methods Hollands, Gareth J
2012
13 1 artikel
88 Peripheral PDLIM5 expression in bipolar disorder and the effect of olanzapine administration Zain, Mohd Aizat
2012
13 1 artikel
89 Phosphodiesterase 8B gene polymorphism in women with recurrent miscarriage: A retrospective case control study Granfors, Michaela
2012
13 1 artikel
90 PNPLA 3 I148M genetic variant associates with insulin resistance and baseline viral load in HCV genotype 2 but not in genotype 3 infection Rembeck, Karolina
2012
13 1 artikel
91 Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study Potts, Lisa F
2012
13 1 artikel
92 Polymorphisms in the genes coding for iron binding and transporting proteins are associated with disability, severity, and early progression in multiple sclerosis Gemmati, Donato
2012
13 1 artikel
93 Polymorphisms in the mitochondrial oxidative phosphorylation chain genes as prognostic markers for colorectal cancer Lascorz, Jesus
2012
13 1 artikel
94 Possible role of EMID2 on nasal polyps pathogenesis in Korean asthma patients Pasaje, Charisse Flerida Arnejo
2012
13 1 artikel
95 Prediction of lung cancer risk in a Chinese population using a multifactorial genetic model Li, Huan
2012
13 1 artikel
96 PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients Swart, Marelize
2012
13 1 artikel
97 Quantitative global and gene-specific promoter methylation in relation to biological properties of neuroblastomas Kiss, Nimrod B
2012
13 1 artikel
98 Race-ethnic differences in the association of genetic loci with HbA1c levels and mortality in U.S. adults: the third National Health and Nutrition Examination Survey (NHANES III) Grimsby, Jonna L
2012
13 1 artikel
99 Relationships between the ABO blood group SNP rs505922 and breast cancer phenotypes: a genotype-phenotype correlation study Rummel, Seth
2012
13 1 artikel
100 Reliable and rapid characterization of functional FCN2 gene variants reveals diverse geographical patterns Ojurongbe, Olusola
2012
13 1 artikel
101 Shared ancestral susceptibility to colorectal cancer and other nutrition related diseases Huhn, Stefanie
2012
13 1 artikel
102 Single nucleotide polymorphisms in thymic stromal lymphopoietin gene are not associated with allergic rhinitis susceptibility in Chinese subjects Zhang, Yuan
2012
13 1 artikel
103 SNP-set analysis replicates acute lung injury genetic risk factors Meyer, Nuala J
2012
13 1 artikel
104 SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype Hersmus, Remko
2012
13 1 artikel
105 Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7 Yu-jin, Qu
2012
13 1 artikel
106 Systems analysis of inflammatory bowel disease based on comprehensive gene information Suzuki, Satoru
2012
13 1 artikel
107 T−786→C polymorphism of the endothelial nitric oxide synthase gene is associated with insulin resistance in patients with ischemic or non ischemic cardiomyopathy Vecoli, Cecilia
2012
13 1 artikel
108 TGFB1 genetic polymorphisms and coronary heart disease risk: a meta-analysis Lu, Yingchang
2012
13 1 artikel
109 The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy Neri, Marcella
2012
13 1 artikel
110 The CAG repeat polymorphism in the Androgen receptor gene modifies the risk for hypospadias in Caucasians Adamovic, Tatjana
2012
13 1 artikel
111 The C allele of JAK2 rs4495487 is an additional candidate locus that contributes to myeloproliferative neoplasm predisposition in the Japanese population Ohyashiki, Junko H
2012
13 1 artikel
112 The combined effect of the T2DM susceptibility genes is an important risk factor for T2DM in non-obese Japanese: a population based case-control study Yamakawa-Kobayashi, Kimiko
2012
13 1 artikel
113 The contribution of FTO and UCP-1 SNPs to extreme obesity, diabetes and cardiovascular risk in Brazilian individuals Ramos, Adauto V
2012
13 1 artikel
114 The effect of FOXA2 rs1209523 on glucose-related phenotypes and risk of type 2 diabetes in Danish individuals Banasik, Karina
2012
13 1 artikel
115 The genetic variants at the HLA-DRB1 gene are associated with primary IgA nephropathy in Han Chinese Jiyun, Yang
2012
13 1 artikel
116 The identification of a spontaneous 47, XX, +21/46, XY chimeric fetus with male genitalia Lee, Kuei-Fang
2012
13 1 artikel
117 The MAP2K5-linked SNP rs2241423 is associated with BMI and obesity in two cohorts of Swedish and Greek children Rask-Andersen, Mathias
2012
13 1 artikel
118 The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro Tabolacci, Elisabetta
2012
13 1 artikel
119 The Renalase Asp37Glu polymorphism is not associated with hypertension and cardiovascular events in an urban-based prospective cohort: the Malmö Diet and cancer study Fava, Cristiano
2012
13 1 artikel
120 Thymic stromal lymphopoietin gene promoter polymorphisms and expression levels in Graves’ disease and Graves’ ophthalmopathy Tsai, Kun-Hsi
2012
13 1 artikel
121 Toll-like receptor gene polymorphisms are associated with allergic rhinitis: a case control study Nilsson, Daniel
2012
13 1 artikel
122 Transferability and Fine Mapping of genome-wide associated loci for lipids in African Americans Adeyemo, Adebowale
2012
13 1 artikel
123 UMOD as a susceptibility gene for end-stage renal disease Reznichenko, Anna
2012
13 1 artikel
124 Whole-exome sequencing of a pedigree segregating asthma DeWan, Andrew T
2012
13 1 artikel
                             124 gevonden resultaten
 
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