| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Abnormal glucose tolerance and insulin resistance in polycystic ovary syndrome amongst the Taiwanese population- not correlated with insulin receptor substrate-1 Gly972Arg/Ala513Pro polymorphism
|
Lin, Ta-Chin
|
|
2006
|
7 |
1 |
|
artikel
|
| 2 |
A coding polymorphism in matrix metalloproteinase 9 reduces risk of scarring sequelae of ocular Chlamydia trachomatis infection
|
Natividad, Angels
|
|
2006
|
7 |
1 |
|
artikel
|
| 3 |
A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans
|
Pandit, Bhaswati
|
|
2006
|
7 |
1 |
|
artikel
|
| 4 |
β2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus
|
Pinelli, Michele
|
|
2006
|
7 |
1 |
|
artikel
|
| 5 |
β3-adrenergic receptor gene, body mass index, bone mineral density and fracture risk in elderly men and women: the Dubbo Osteoporosis Epidemiology Study (DOES)
|
Wang, Claire Y
|
|
2006
|
7 |
1 |
|
artikel
|
| 6 |
A functional PTPN22 polymorphism associated with several autoimmune diseases is not associated with IgA deficiency in the Spanish population
|
Núñez, Concepción
|
|
2006
|
7 |
1 |
|
artikel
|
| 7 |
Analysis of coding variants in the betacellulin gene in type 2 diabetes and insulin secretion in African American subjects
|
Elbein, Steven C
|
|
2006
|
7 |
1 |
|
artikel
|
| 8 |
Analysis of common PTPN1 gene variants in type 2 diabetes, obesity and associated phenotypes in the French population
|
Cheyssac, Claire
|
|
2006
|
7 |
1 |
|
artikel
|
| 9 |
Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases
|
Smyth, Deborah J
|
|
2006
|
7 |
1 |
|
artikel
|
| 10 |
Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome
|
Maciolek, Nicole L
|
|
2006
|
7 |
1 |
|
artikel
|
| 11 |
Analysis of the XRCC1 gene as a modifier of the cerebral response in ischemic stroke
|
Dutra, Ana VC
|
|
2006
|
7 |
1 |
|
artikel
|
| 12 |
An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians
|
Bugeja, Matthew J
|
|
2006
|
7 |
1 |
|
artikel
|
| 13 |
A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Indian patients
|
Thakur, Nikita
|
|
2006
|
7 |
1 |
|
artikel
|
| 14 |
A novel mutation in the SH3BP2 gene causes cherubism: case report
|
Li, Cui-Ying
|
|
2006
|
7 |
1 |
|
artikel
|
| 15 |
A role for CETP TaqIB polymorphism in determining susceptibility to atrial fibrillation: a nested case control study
|
Asselbergs, Folkert W
|
|
2006
|
7 |
1 |
|
artikel
|
| 16 |
Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes
|
Matolweni, Luzuko O
|
|
2006
|
7 |
1 |
|
artikel
|
| 17 |
Association of surfactant protein A polymorphisms with otitis media in infants at risk for asthma
|
Pettigrew, Melinda M
|
|
2006
|
7 |
1 |
|
artikel
|
| 18 |
Association study of genetic variants of pro-inflammatory chemokine and cytokine genes in systemic lupus erythematosus
|
Sánchez, Elena
|
|
2006
|
7 |
1 |
|
artikel
|
| 19 |
A study of 82 extended HLA haplotypes in HFE-C282Y homozygous hemochromatosis subjects: relationship to the genetic control of CD8+ T-lymphocyte numbers and severity of iron overload
|
Cruz, Eugénia
|
|
2006
|
7 |
1 |
|
artikel
|
| 20 |
A study of the relationships between KLF2 polymorphisms and body weight control in a French population
|
Meirhaeghe, Aline
|
|
2006
|
7 |
1 |
|
artikel
|
| 21 |
Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis
|
King, Caitriona
|
|
2006
|
7 |
1 |
|
artikel
|
| 22 |
Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions
|
Uddin, Raihan K
|
|
2006
|
7 |
1 |
|
artikel
|
| 23 |
Cell type-specific over-expression of chromosome 21 genes in fibroblasts and fetal hearts with trisomy 21
|
Li, Chi-Ming
|
|
2006
|
7 |
1 |
|
artikel
|
| 24 |
Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2)
|
Engelfried, Kathrin
|
|
2006
|
7 |
1 |
|
artikel
|
| 25 |
Chronic renal insufficiency among Asian Indians with type 2 diabetes: I. Role of RAAS gene polymorphisms
|
Prasad, Pushplata
|
|
2006
|
7 |
1 |
|
artikel
|
| 26 |
Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2)
|
Lalani, Seema R
|
|
2006
|
7 |
1 |
|
artikel
|
| 27 |
Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish
|
McCauley, Jacob L
|
|
2006
|
7 |
1 |
|
artikel
|
| 28 |
Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India
|
Saxena, Sunita
|
|
2006
|
7 |
1 |
|
artikel
|
| 29 |
Deletions in the Y-derived amelogenin gene fragment in the Indian population
|
Kashyap, VK
|
|
2006
|
7 |
1 |
|
artikel
|
| 30 |
EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families
|
Lind, Lisbet K
|
|
2006
|
7 |
1 |
|
artikel
|
| 31 |
Effect of Native American ancestry on iron-related phenotypes of Alabama hemochromatosis probands with HFE C282Y homozygosity
|
Barton, James C
|
|
2006
|
7 |
1 |
|
artikel
|
| 32 |
Eight previously unidentified mutations found in the OA1 ocular albinism gene
|
Mayeur, Hélène
|
|
2006
|
7 |
1 |
|
artikel
|
| 33 |
E-selectin S128R polymorphism and severe coronary artery disease in Arabs
|
Abu-Amero, Khaled K
|
|
2006
|
7 |
1 |
|
artikel
|
| 34 |
Evidence for a gene influencing heart rate on chromosome 5p13-14 in a meta-analysis of genome-wide scans from the NHLBI Family Blood Pressure Program
|
Laramie, Jason M
|
|
2006
|
7 |
1 |
|
artikel
|
| 35 |
Evidence for association between the HLA-DQA locus and abdominal aortic aneurysms in the Belgian population: a case control study
|
Ogata, Toru
|
|
2006
|
7 |
1 |
|
artikel
|
| 36 |
Evidence for the association of the SLC22A4 and SLC22A5 genes with Type 1 Diabetes: a case control study
|
Santiago, Jose Luis
|
|
2006
|
7 |
1 |
|
artikel
|
| 37 |
Expression profiling of clonal lymphocyte cell cultures from Rett syndrome patients
|
Delgado, Ivan J
|
|
2006
|
7 |
1 |
|
artikel
|
| 38 |
Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature
|
Brooks, Brian P
|
|
2006
|
7 |
1 |
|
artikel
|
| 39 |
Familial deletion 18p syndrome: case report
|
Maranda, Bruno
|
|
2006
|
7 |
1 |
|
artikel
|
| 40 |
Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study
|
Alsmadi, Osama A
|
|
2006
|
7 |
1 |
|
artikel
|
| 41 |
GAIA: An easy-to-use web-based application for interaction analysis of case-control data
|
Macgregor, Stuart
|
|
2006
|
7 |
1 |
|
artikel
|
| 42 |
Gene by environment QTL mapping through multiple trait analyses in blood pressure salt-sensitivity: identification of a novel QTL in rat chromosome 5
|
Soler, Júlia M Pavan
|
|
2006
|
7 |
1 |
|
artikel
|
| 43 |
Gene expression profiles in Finnish twins with multiple sclerosis
|
Särkijärvi, Silja
|
|
2006
|
7 |
1 |
|
artikel
|
| 44 |
Generation Scotland: the Scottish Family Health Study; a new resource for researching genes and heritability
|
Smith, Blair H
|
|
2006
|
7 |
1 |
|
artikel
|
| 45 |
Genome-wide significance for a modifier of age at neurological onset in Huntington's Disease at 6q23-24: the HD MAPS study
|
Li, Jian-Liang
|
|
2006
|
7 |
1 |
|
artikel
|
| 46 |
Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects
|
Nissen, Peter H
|
|
2006
|
7 |
1 |
|
artikel
|
| 47 |
Genomic screen for loci associated with tobacco usage in Mission Indians
|
Ehlers, Cindy L
|
|
2006
|
7 |
1 |
|
artikel
|
| 48 |
Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families
|
Oros, Kathleen K
|
|
2006
|
7 |
1 |
|
artikel
|
| 49 |
Identification of novel functional sequence variants in the gene for peptidase inhibitor 3
|
Chowdhury, Mahboob A
|
|
2006
|
7 |
1 |
|
artikel
|
| 50 |
Identification of polymorphisms and balancing selection in the male infertility candidate gene, ornithine decarboxylase antizyme 3
|
Christensen, Greg L
|
|
2006
|
7 |
1 |
|
artikel
|
| 51 |
Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report
|
de la Houssaye, Guillaume
|
|
2006
|
7 |
1 |
|
artikel
|
| 52 |
Influence of advanced age of maternal grandmothers on Down syndrome
|
Malini, Suttur S
|
|
2006
|
7 |
1 |
|
artikel
|
| 53 |
INSIG-2 promoter polymorphism and obesity related phenotypes: association study in 1428 members of 248 families
|
Hall, Darroch H
|
|
2006
|
7 |
1 |
|
artikel
|
| 54 |
Interleukin-10 haplotypes in Celiac Disease in the Spanish population
|
Núñez, Concepción
|
|
2006
|
7 |
1 |
|
artikel
|
| 55 |
Interleukin-10 polymorphisms in Spanish IgA deficiency patients: a case-control and family study
|
Ortiz, Javier
|
|
2006
|
7 |
1 |
|
artikel
|
| 56 |
Lack of MEF2A Δ7aa mutation in Irish families with early onset ischaemic heart disease, a family based study
|
Horan, Paul G
|
|
2006
|
7 |
1 |
|
artikel
|
| 57 |
Meta-analysis on the effect of the N363S polymorphism of the glucocorticoid receptor gene (GRL) on human obesity
|
Marti, Amelia
|
|
2006
|
7 |
1 |
|
artikel
|
| 58 |
Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue
|
Chialina, Sergio G
|
|
2006
|
7 |
1 |
|
artikel
|
| 59 |
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex
|
Hung, Chia-Cheng
|
|
2006
|
7 |
1 |
|
artikel
|
| 60 |
Multilevel analysis of systolic blood pressure and ACE gene I/D polymorphism in 438 Swedish families – a public health perspective
|
Merlo, Juan
|
|
2006
|
7 |
1 |
|
artikel
|
| 61 |
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma
|
Bayley, Jean-Pierre
|
|
2006
|
7 |
1 |
|
artikel
|
| 62 |
Mutations underlying 3-Hydroxy-3-Methylglutaryl CoA Lyase deficiency in the Saudi population
|
Al-Sayed, Moeenaldeen
|
|
2006
|
7 |
1 |
|
artikel
|
| 63 |
N-acetyltransferase 2 (NAT2) gene polymorphisms in colon and lung cancer patients
|
Borlak, Juergen
|
|
2006
|
7 |
1 |
|
artikel
|
| 64 |
N-acetyltransferase 2 (NAT2) gene polymorphisms in Parkinson's disease
|
Borlak, Juergen
|
|
2006
|
7 |
1 |
|
artikel
|
| 65 |
No association between polymorphisms in the BDNF gene and age at onset in Huntington disease
|
Mai, Maren
|
|
2006
|
7 |
1 |
|
artikel
|
| 66 |
No role for estrogen receptor 1 gene intron 1 Pvu II and exon 4 C325G polymorphisms in migraine susceptibility
|
Colson, Natalie J
|
|
2006
|
7 |
1 |
|
artikel
|
| 67 |
On the Wegener granulomatosis associated region on chromosome 6p21.3
|
Szyld, Paweł
|
|
2006
|
7 |
1 |
|
artikel
|
| 68 |
Paraoxonase gene polymorphisms and haplotype analysis in a stroke population
|
Pasdar, Alireza
|
|
2006
|
7 |
1 |
|
artikel
|
| 69 |
Peroxisomal proliferator activated receptor-γ deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3)
|
Francis, Gordon A
|
|
2006
|
7 |
1 |
|
artikel
|
| 70 |
PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease
|
Vouk, Katja
|
|
2006
|
7 |
1 |
|
artikel
|
| 71 |
Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T<C (L444P)
|
Brown, Justin T
|
|
2006
|
7 |
1 |
|
artikel
|
| 72 |
Potassium channel gene mutations rarely cause atrial fibrillation
|
Ellinor, Patrick T
|
|
2006
|
7 |
1 |
|
artikel
|
| 73 |
Production and characterization of murine models of classic and intermediate maple syrup urine disease
|
Homanics, Gregg E
|
|
2006
|
7 |
1 |
|
artikel
|
| 74 |
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients
|
Bentivegna, Angela
|
|
2006
|
7 |
1 |
|
artikel
|
| 75 |
Satisfaction survey with DNA cards method to collect genetic samples for pharmacogenetics studies
|
Vidal-Taboada, Jose M
|
|
2006
|
7 |
1 |
|
artikel
|
| 76 |
The E670G SNP in the PCSK9 gene is associated with polygenic hypercholesterolemia in men but not in women
|
Evans, David
|
|
2006
|
7 |
1 |
|
artikel
|
| 77 |
The frequent BRCA1 mutation 1135insA has multiple origins: a haplotype study in different populations
|
Rudkin, Teresa M
|
|
2006
|
7 |
1 |
|
artikel
|
| 78 |
The functional "KL-VS" variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians
|
Freathy, Rachel M
|
|
2006
|
7 |
1 |
|
artikel
|
| 79 |
The GCC repeat length in the 5'UTR of MRP1 gene is polymorphic: a functional characterization of its relevance for cystic fibrosis
|
Nicolis, Elena
|
|
2006
|
7 |
1 |
|
artikel
|
| 80 |
The Glu27 genotypes of the Beta2-adrenergic receptor are predictors for severe coronary artery disease
|
Abu-Amero, Khaled K
|
|
2006
|
7 |
1 |
|
artikel
|
| 81 |
The quantification of COMT mRNA in post mortem cerebellum tissue: diagnosis, genotype, methylation and expression
|
Dempster, Emma L
|
|
2006
|
7 |
1 |
|
artikel
|
| 82 |
Three allele combinations associated with Multiple Sclerosis
|
Favorova, Olga O
|
|
2006
|
7 |
1 |
|
artikel
|
| 83 |
Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population
|
Gamundi, María José
|
|
2006
|
7 |
1 |
|
artikel
|
| 84 |
T null and M null genotypes of the glutathione S-transferase gene are risk factor for CAD independent of smoking
|
Abu-Amero, Khaled K
|
|
2006
|
7 |
1 |
|
artikel
|
| 85 |
Triglyceride associated polymorphisms of the APOA5 gene have very different allele frequencies in Pune, India compared to Europeans
|
Chandak, Giriraj R
|
|
2006
|
7 |
1 |
|
artikel
|
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