Experts and Doctors on genotype in Nijmegen, Gelderland, Netherlands


Locale: Nijmegen, Gelderland, Netherlands
Topic: genotype

Top Publications

  1. Plantinga R, Kleemola L, Huygen P, Joensuu T, Sankila E, Pennings R, et al. Serial audiometry and speech recognition findings in Finnish Usher syndrome type III patients. Audiol Neurootol. 2005;10:79-89 pubmed
    ..Speech recognition started to deteriorate at highly variable ages. In some patients, it jeopardised normal speech and language development, whereas in others it was still remarkably good at advanced ages. ..
  2. van Oijen M, Huybers S, Peters W, Drenth J, Laheij R, Verheugt F, et al. Polymorphisms in genes encoding acetylsalicylic acid metabolizing enzymes are unrelated to upper gastrointestinal health in cardiovascular patients on acetylsalicylic acid. Br J Clin Pharmacol. 2005;60:623-8 pubmed
    ..85, 95% CI = 0.44-1.67). There was no association between polymorphisms in genes encoding for acetylsalicylic acid metabolizing enzymes on the prevalence of gastric complaints in cardiovascular patients on acetylsalicylic acid. ..
  3. Berkhout M, Roelofs H, te Morsche R, Dekker E, van Krieken J, Nagengast F, et al. Detoxification enzyme polymorphisms are not involved in duodenal adenomatosis in familial adenomatous polyposis. Br J Surg. 2008;95:499-505 pubmed
    ..Although the variant genotypes of UGT1A3 were less common in patients with FAP than in those without, this did not modulate the severity of duodenal adenomatosis. ..
  4. Oti M, Huynen M, Brunner H. Phenome connections. Trends Genet. 2008;24:103-6 pubmed publisher
    ..Their results imply that the human phenome can be viewed as a landscape of interrelated diseases, reflecting overlapping molecular causation. ..
  5. Slavenburg S, Weggelaar I, van Oijen M, Drenth J. Optimal length of antiviral therapy in patients with hepatitis C virus genotypes 2 and 3: a meta-analysis. Antivir Ther. 2009;14:1139-48 pubmed publisher
    ..92-1.09). A shorter course (12-16 weeks) of combination therapy does not impair efficacy compared with a 24-week course in HCV genotypes 2 and 3 patients who achieve an RVR. HCV patients without RVR should consider 24 weeks of treatment. ..
  6. Kiemeney L, Sulem P, Besenbacher S, Vermeulen S, Sigurdsson A, Thorleifsson G, et al. A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer. Nat Genet. 2010;42:415-9 pubmed publisher
    ..The frequency of rs798766[T] is higher in Ta tumors that carry an activating mutation in FGFR3 than in Ta tumors with wild-type FGFR3. Our results show a link between germline variants, somatic mutations of FGFR3 and risk of UBC. ..
  7. Zielhuis G. Biobanking for epidemiology. Public Health. 2012;126:214-216 pubmed publisher
    ..Biobanks are goldmines for epidemiological research, provided that they are set up properly, enable multicentre collaboration, and are available for use by all serious epidemiology groups. ..
  8. Lackner M, Coassin S, Haun M, Binder U, Kronenberg F, Haas H, et al. Geographically predominant genotypes of Aspergillus terreus species complex in Austria: s microsatellite typing study. Clin Microbiol Infect. 2016;22:270-6 pubmed publisher
    ..Our data suggest a specific environmental exposure being responsible for the high incidence of A. terreus infections in Innsbruck, the Inn valley and side valleys (Tyrol, Austria). ..
  9. Boekhout A, Gietema J, Milojkovic Kerklaan B, van Werkhoven E, Altena R, Honkoop A, et al. Angiotensin II-Receptor Inhibition With Candesartan to Prevent Trastuzumab-Related Cardiotoxic Effects in Patients With Early Breast Cancer: A Randomized Clinical Trial. JAMA Oncol. 2016;2:1030-7 pubmed publisher
    ..The ERBB2 germline Ala1170Pro single nucleotide polymorphism may be used to identify patients who are at increased risk of trastuzumab-related cardiotoxic effects. Identifier: NCT00459771. ..

More Information

Publications132 found, 100 shown here

  1. Sluyter F, Marican C, Roubertoux P, Crusio W. Radial maze learning in two inbred mouse strains and their reciprocal congenics for the non-pseudoautosomal region of the Y chromosome. Brain Res. 1999;835:68-73 pubmed
    ..These findings are in agreement with previous results regarding the sizes of the intra- and infrapyramidal mossy fiber (IIPMF) terminal fields. ..
  2. van Tits L, Jacobs E, Swinkels D, Lemmers H, van der Vleuten G, de Graaf J, et al. Non-transferrin-bound iron is associated with plasma level of soluble intercellular adhesion molecule-1 but not with in vivo low-density lipoprotein oxidation. Atherosclerosis. 2007;194:272-8 pubmed
    ..Excess body iron, reflected by elevated serum ferritin and NTBI and decreased TIBC, is associated with increased plasma level of sICAM-1 but not with markers of in vivo LDL oxidation. ..
  3. Oesterholt M, Alifrangis M, Sutherland C, Omar S, Sawa P, Howitt C, et al. Submicroscopic gametocytes and the transmission of antifolate-resistant Plasmodium falciparum in Western Kenya. PLoS ONE. 2009;4:e4364 pubmed publisher
    ..The absence of wild-type infections is likely to have reduced our power to detect differences. Our data further support the use of ACT to reduce the transmission of drug-resistant malaria parasites. ..
  4. Coenen M, Trynka G, Heskamp S, Franke B, van Diemen C, Smolonska J, et al. Common and different genetic background for rheumatoid arthritis and coeliac disease. Hum Mol Genet. 2009;18:4195-203 pubmed publisher
    ..We confirmed two known loci and identified four novel ones for shared CD-RA genetic risk. Most of the shared loci further emphasize a role for adaptive and innate immunity in these diseases. ..
  5. Snelders E, Camps S, Karawajczyk A, Schaftenaar G, Kema G, van der Lee H, et al. Triazole fungicides can induce cross-resistance to medical triazoles in Aspergillus fumigatus. PLoS ONE. 2012;7:e31801 pubmed publisher
    ..Our findings have major implications for the assessment of health risks associated with the use of triazole DMIs. ..
  6. Janssen M, Salomon J, Te Morsche R, Drenth J. Loss of heterozygosity is present in SEC63 germline carriers with polycystic liver disease. PLoS ONE. 2012;7:e50324 pubmed publisher
    ..In conclusion, as somatic second-hit mutations also play a role in cyst formation in patients with a SEC63 germline mutation, this appears to be a general mechanism of cyst formation in PCLD. ..
  7. van der Linden J, Camps S, Kampinga G, Arends J, Debets Ossenkopp Y, Haas P, et al. Aspergillosis due to voriconazole highly resistant Aspergillus fumigatus and recovery of genetically related resistant isolates from domiciles. Clin Infect Dis. 2013;57:513-20 pubmed publisher
    ..Selection of azole resistance may occur through exposure to azole fungicides in the environment. In the Netherlands a surveillance network was used to investigate the epidemiology of resistance selection in A. fumigatus...
  8. Suerink M, van der Klift H, Ten Broeke S, Dekkers O, Bernstein I, Capellá Munar G, et al. The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. Genet Med. 2016;18:405-9 pubmed publisher
    ..If confirmed, this finding would justify a delay in surveillance for these cases. Cancer risk was not influenced by a parent-of-origin effect.Genet Med 18 4, 405-409. ..
  9. de Hooge A, van de Loo F, Bennink M, de Jong D, Arntz O, Lubberts E, et al. Adenoviral transfer of murine oncostatin M elicits periosteal bone apposition in knee joints of mice, despite synovial inflammation and up-regulated expression of interleukin-6 and receptor activator of nuclear factor-kappa B ligand. Am J Pathol. 2002;160:1733-43 pubmed
    ..Our results show that OSM favors bone apposition at periosteal sites instead of resorption in vivo. This effect was not dependent on or inhibited by IL-6. ..
  10. Verhagen M, van der Meij A, van Deurzen P, Janzing J, Arias Vasquez A, Buitelaar J, et al. Meta-analysis of the BDNF Val66Met polymorphism in major depressive disorder: effects of gender and ethnicity. Mol Psychiatry. 2010;15:260-71 pubmed publisher
    ..Our results suggest that the BDNF Val66Met polymorphism is of greater importance in the development of MDD in men than in women. Future research into gender issues will be of interest. ..
  11. Peters W, Te Morsche R, Roelofs H, Mathus Vliegen E, Berkhout M, Nagengast F. COX-2 polymorphisms in patients with familial adenomatous polyposis. Oncol Res. 2009;17:347-51 pubmed
    ..The predicted low COX-2 expression genotype -1195GG was found overrepresented in the patients with FAP. The COX-2 genotypes showed no association with the severity of duodenal adenomatosis. ..
  12. Sánchez Mora C, Ribases M, Ramos Quiroga J, Casas M, Bosch R, Boreatti Hümmer A, et al. Meta-analysis of brain-derived neurotrophic factor p.Val66Met in adult ADHD in four European populations. Am J Med Genet B Neuropsychiatr Genet. 2010;153B:512-523 pubmed publisher
    ..Despite the potential role of BDNF in ADHD, our data do not support the involvement of p.Val66Met in the pathogenesis of this neuropsychiatric disorder. ..
  13. Kavishe R, Bousema T, Shekalaghe S, Sauerwein R, Mosha F, van der Ven A, et al. Common genotypic polymorphisms in glutathione S-transferases in mild and severe falciparum malaria in Tanzanian children. Am J Trop Med Hyg. 2009;81:363-5 pubmed
    ..0% against 10.3% mild malaria, P = 0.004). We concluded that GSTP1 and possibly GSTM1 may protect against severe falciparum malaria in children. ..
  14. van Roekel E, Verhagen M, Engels R, Goossens L, Scholte R. Oxytocin receptor gene (OXTR) in relation to loneliness in adolescence: interactions with sex, parental support, and DRD2 and 5-HTTLPR genotypes. Psychiatr Genet. 2013;23:204-13 pubmed publisher
  15. Niehues H, Tsoi L, van der Krieken D, Jansen P, Oortveld M, Rodijk Olthuis D, et al. Psoriasis-Associated Late Cornified Envelope (LCE) Proteins Have Antibacterial Activity. J Invest Dermatol. 2017;137:2380-2388 pubmed publisher
    ..Our findings identify an unknown biological function for LCE3 proteins and suggest a role in epidermal host defense and LCE3B/C-del-mediated psoriasis risk. ..
  16. Matzaraki V, Gresnigt M, Jaeger M, Ricaño Ponce I, Johnson M, Oosting M, et al. An integrative genomics approach identifies novel pathways that influence candidaemia susceptibility. PLoS ONE. 2017;12:e0180824 pubmed publisher
    ..By applying this approach to candidaemia, we identified novel susceptibility genes and pathways for candidaemia, and future studies should assess their potential as therapeutic targets. ..
  17. van Bokhoven H, Celli J, Kayserili H, van Beusekom E, Balci S, Brussel W, et al. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nat Genet. 2000;25:423-6 pubmed
    ..The ROR2 mutations present in RRS result in premature stop codons and predict nonfunctional proteins. ..
  18. Zusterzeel P, Visser W, Blom H, Peters W, Heil S, Steegers E. Methylenetetrahydrofolate reductase polymorphisms in preeclampsia and the HELLP syndrome. Hypertens Pregnancy. 2000;19:299-307 pubmed
    ..From the meta-analysis, however, we conclude that it cannot be ruled out that the homozygous 677TT genotype is a modest but significant risk factor for preeclampsia. ..
  19. Franke B, Klootwijk R, Lemmers B, de Kovel C, Steegers Theunissen R, Mariman E. Phenotype of the neural tube defect mouse model bent tail is not sensitive to maternal folinic acid, myo-inositol, or zinc supplementation. Birth Defects Res A Clin Mol Teratol. 2003;67:979-84 pubmed
    ..Bent tail appears to be a folinic acid-, myo-inositol-, and zinc-insensitive mouse model for NTDs. ..
  20. Kleefstra T, Franken C, Arens Y, Ramakers G, Yntema H, Sistermans E, et al. Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1). Clin Genet. 2004;66:318-26 pubmed
    ..These observations contribute to the phenotypic knowledge of patients with PQBP1 mutations and make this XLMR syndrome well recognizable to clinicians...
  21. Tol J, Dijkstra J, Vink Börger M, Nagtegaal I, Punt C, van Krieken J, et al. High sensitivity of both sequencing and real-time PCR analysis of KRAS mutations in colorectal cancer tissue. J Cell Mol Med. 2010;14:2122-31 pubmed publisher
    ..5% (95% confidence interval [CI] 91.7-97.9%) and 96.5% (95% CI 93.0-98.6%), respectively. The real-time PCR based assay is the method of choice in samples with a tumour cell percentage below 30%. ..
  22. van der Zanden L, van Rooij I, Feitz W, Knight J, Donders A, Renkema K, et al. Common variants in DGKK are strongly associated with risk of hypospadias. Nat Genet. 2011;43:48-50 pubmed publisher
    ..Expression studies showed expression of DGKK in preputial tissue of cases and controls, which was lower in carriers of the risk allele of rs1934179 (P = 0.047). We propose DGKK as a major risk gene for hypospadias...
  23. Rosentul D, Plantinga T, Scott W, Alexander B, van de Geer N, Perfect J, et al. The impact of caspase-12 on susceptibility to candidemia. Eur J Clin Microbiol Infect Dis. 2012;31:277-80 pubmed publisher
    ..Although the functional CASPASE-12 allele has been suggested to increase susceptibility to bacterial sepsis, this could not be confirmed in our larger cohort of fungal sepsis patients. ..
  24. Broen K, van der Waart A, Greupink Draaisma A, Metzig J, Feuth T, Schaap N, et al. Polymorphisms in CCR6 are associated with chronic graft-versus-host disease and invasive fungal disease in matched-related hematopoietic stem cell transplantation. Biol Blood Marrow Transplant. 2011;17:1443-9 pubmed publisher
    ..59; P = .008). This study shows that CCR6 SNPs can be used to predict clinical outcome, and that polymorphisms in the CCR6 gene may influence T cell-mediated immune reactions after HSCT. ..
  25. Arias Vasquez A, Altink M, Rommelse N, Slaats Willemse D, Buschgens C, Fliers E, et al. CDH13 is associated with working memory performance in attention deficit/hyperactivity disorder. Genes Brain Behav. 2011;10:844-51 pubmed publisher
    ..As such, our study may be viewed as exploratory, with the results presented providing interesting hypotheses for further testing. ..
  26. Rosentul D, Plantinga T, Oosting M, Scott W, Velez Edwards D, Smith P, et al. Genetic variation in the dectin-1/CARD9 recognition pathway and susceptibility to candidemia. J Infect Dis. 2011;204:1138-45 pubmed publisher
    ..Whereas the dectin-1/CARD9 signaling pathway is nonredundant in mucosal immunity to C. albicans, a partial deficiency of ?-glucan recognition has a minor impact on susceptibility to candidemia. ..
  27. Ioana M, Ferwerda B, Plantinga T, Stappers M, Oosting M, McCall M, et al. Different patterns of Toll-like receptor 2 polymorphisms in populations of various ethnic and geographic origins. Infect Immun. 2012;80:1917-22 pubmed publisher
    ..The differential pattern of the TLR2 polymorphisms in various populations may explain some of the differences in susceptibility to infections between these populations. ..
  28. Jaeger M, Carvalho A, Cunha C, Plantinga T, van de Veerdonk F, Puccetti M, et al. Association of a variable number tandem repeat in the NLRP3 gene in women with susceptibility to RVVC. Eur J Clin Microbiol Infect Dis. 2016;35:797-801 pubmed publisher
    ..These findings suggest that IL-1β-mediated hyperinflammation conveyed by the NLRP3 gene plays a causal role in the pathogenesis of RVVC and may identify this pathway as a potential therapeutic target in the disease. ..
  29. Overes I, Levenga T, Vos J, van Horssen Zoetbrood A, van der Voort R, de Mulder P, et al. Aberrant expression of the hematopoietic-restricted minor histocompatibility antigen LRH-1 on solid tumors results in efficient cytotoxic T cell-mediated lysis. Cancer Immunol Immunother. 2009;58:429-39 pubmed publisher
    ..Overall, hematopoietic-restricted MiHA LRH-1 is aberrantly expressed on solid tumor cells and may be used as target in GVT-specific immunotherapy after SCT. ..
  30. van Ede A, Laan R, Blom H, Huizinga T, Haagsma C, Giesendorf B, et al. The C677T mutation in the methylenetetrahydrofolate reductase gene: a genetic risk factor for methotrexate-related elevation of liver enzymes in rheumatoid arthritis patients. Arthritis Rheum. 2001;44:2525-30 pubmed
    ..Supplementation with folic or folinic acid reduced the risk of toxicity-related discontinuation of MTX treatment both in patients with and in patients without the mutation. ..
  31. Van Dijk B, van Houwelingen K, Witjes J, Schalken J, Kiemeney L. Alcohol dehydrogenase type 3 (ADH3) and the risk of bladder cancer. Eur Urol. 2001;40:509-14 pubmed
    ..Although moderate drinkers with the gamma1gamma1 genotype seem to have the highest risk, we did not get a clear indication that ADH3 genotype modifies the relationship between alcohol intake and bladder cancer. ..
  32. Drenth J, te Morsche R, Jansen J. Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis. Gut. 2002;50:687-92 pubmed
    ..Identification of SPINK1 mutations in 12.2% of patients with adult alcoholic and idiopathic chronic pancreatitis suggests an important role for SPINK1 as a predisposing factor in adult chronic pancreatitis. ..
  33. van der Hilst J, Drenth J, Bodar E, Bijzet J, van der Meer J, Simon A. Serum amyloid A serum concentrations and genotype do not explain low incidence of amyloidosis in Hyper-IgD syndrome. Amyloid. 2005;12:115-9 pubmed
    ..41 vs. 0.50 p=0.32). Patients with HIDS have high SAA during attacks and show sub-clinical inflammation when asymptomatic. The low incidence of amyloidosis cannot be explained by a predominance of non amyloidogenic SAA related genotypes. ..
  34. Feenstra I, Brunner H, van Ravenswaaij C. Cytogenetic genotype-phenotype studies: improving genotyping, phenotyping and data storage. Cytogenet Genome Res. 2006;115:231-9 pubmed
    ..As a result, critical regions or single genes can be determined to be responsible for specific features and malformations. ..
  35. Verhaegh G, Verkleij L, Vermeulen S, den Heijer M, Witjes J, Kiemeney L. Polymorphisms in the H19 gene and the risk of bladder cancer. Eur Urol. 2008;54:1118-26 pubmed publisher
    ..An SNP polymorphism in the non-protein-encoding H19 gene is associated with a decreased risk of developing non-muscle-invasive bladder cancer. This association was found for only heterozygotes, not for homozygotes. ..
  36. Bruggemann R, Donnelly J, Aarnoutse R, Warris A, Blijlevens N, Mouton J, et al. Therapeutic drug monitoring of voriconazole. Ther Drug Monit. 2008;30:403-11 pubmed publisher
    ..We provide a summary of the problem so that further research can be conducted to address this are of clinical need. ..
  37. Westeneng van Haaften S, Boon C, Cremers F, Hoefsloot L, den Hollander A, Hoyng C. Clinical and genetic characteristics of late-onset Stargardt's disease. Ophthalmology. 2012;119:1199-210 pubmed publisher
    ..To describe the genotype and phenotype of patients with a late-onset Stargardt's disease (STGD1)...
  38. Siemiatkowska A, Astuti G, Arimadyo K, den Hollander A, Faradz S, Cremers F, et al. Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family. Mol Vis. 2012;18:2411-9 pubmed
    ..The purpose of this study was to identify the underlying molecular genetic defect in an Indonesian family with three affected individuals who had received a diagnosis of retinitis pigmentosa (RP)...
  39. Bavelaar H, Rahamat Langendoen J, Niesters H, Zoll J, Melchers W. Whole genome sequencing of fecal samples as a tool for the diagnosis and genetic characterization of norovirus. J Clin Virol. 2015;72:122-5 pubmed publisher
    ..Next-generation sequencing performed directly on clinical samples can become a powerful tool in patient care and infection control. ..
  40. Thaler A, Helmich R, Or Borichev A, Van Nuenen B, Shapira Lichter I, Gurevich T, et al. Intact working memory in non-manifesting LRRK2 carriers--an fMRI study. Eur J Neurosci. 2016;43:106-12 pubmed publisher
    ..These finding shed light on the pre-motor cognitive changes in this unique 'at risk' population and should enable more focused cognitive assessments of these cohorts. ..
  41. Georgitsi M, Vitoros V, Panou C, Tsangaris I, Aimoniotou E, Gatselis N, et al. Individualized significance of the -251 A/T single nucleotide polymorphism of interleukin-8 in severe infections. Eur J Clin Microbiol Infect Dis. 2016;35:563-70 pubmed publisher
    ..It is concluded that carriage of rs4073 modifies susceptibility for severe infection in an individualized way. This is associated with a modulation of circulating IL-8. ..
  42. Weekamp H, Kremer H, Hoefsloot L, Kuijpers Jagtman A, Cruysberg J, Cremers C. Teunissen-Cremers syndrome: a clinical, surgical, and genetic report. Otol Neurotol. 2005;26:38-51 pubmed
    ..To describe clinical and radiologic features, results of ear surgery, and genetic analysis in three families with Teunissen-Cremers syndrome...
  43. Ferwerda B, McCall M, de Vries M, Hopman J, Maiga B, Dolo A, et al. Caspase-12 and the inflammatory response to Yersinia pestis. PLoS ONE. 2009;4:e6870 pubmed publisher
    ..However, caspase-12 does not modulate innate host defense against Y. pestis and alternative explanations for the geographical distribution of caspase-12 should be sought. ..
  44. van Gassen K, van der Heijden C, de Bot S, den Dunnen W, van den Berg L, Verschuuren Bemelmans C, et al. Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort. Brain. 2012;135:2994-3004 pubmed publisher
    ..Functional studies are required to further investigate these interactions. ..
  45. Pauw R, Collin R, Huygen P, Hoefsloot L, Kremer H, Cremers C. Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W. Audiol Neurootol. 2007;12:77-84 pubmed
    ..However, subtle differences in terms of onset age and rate of progression seem to exist. ..
  46. Martens H, Nienhuis H, Gross S, van der Steege G, Brouwer E, Berden J, et al. Receptor for advanced glycation end products (RAGE) polymorphisms are associated with systemic lupus erythematosus and disease severity in lupus nephritis. Lupus. 2012;21:959-68 pubmed publisher
    ..In addition, we investigated whether these polymorphisms in SLE are associated with serum levels of soluble RAGE (sRAGE), renal involvement (lupus nephritis (LN)) and its outcome...
  47. McKay J, Hung R, Han Y, Zong X, Carreras Torres R, Christiani D, et al. Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. Nat Genet. 2017;49:1126-1132 pubmed publisher
    ..Other loci include genes such as a cholinergic nicotinic receptor, CHRNA2, and the telomere-related genes OFBC1 and RTEL1. Further exploration of the target genes will continue to provide new insights into the etiology of lung cancer...
  48. Pennings R, Fields R, Huygen P, Deutman A, Kimberling W, Cremers C. Usher syndrome type III can mimic other types of Usher syndrome. Ann Otol Rhinol Laryngol. 2003;112:525-30 pubmed
  49. Klevering B, Deutman A, Maugeri A, Cremers F, Hoyng C. The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. Graefes Arch Clin Exp Ophthalmol. 2005;243:90-100 pubmed
    ..In this study, we demonstrate the spectrum of retinal dystrophies associated with ABCA4 gene mutations...
  50. Nair A, Hocher B, Verkaart S, van Zeeland F, Pfab T, Slowinski T, et al. Loss of insulin-induced activation of TRPM6 magnesium channels results in impaired glucose tolerance during pregnancy. Proc Natl Acad Sci U S A. 2012;109:11324-9 pubmed publisher
    ..The impaired response of TRPM6(V(1393)I) and TRPM6(K(1584)E) to insulin represents a unique molecular pathway leading to GDM where the defect is located in TRPM6. ..
  51. Smailhodzic D, Muether P, Chen J, Kwestro A, Zhang A, Omar A, et al. Cumulative effect of risk alleles in CFH, ARMS2, and VEGFA on the response to ranibizumab treatment in age-related macular degeneration. Ophthalmology. 2012;119:2304-11 pubmed publisher
    ..A cumulative effect of high-risk alleles in CFH, ARMS2, and VEGFA seems to be associated with a younger age of onset in combination with poor response rates to ranibizumab treatment. ..
  52. Schouwenberg B, Veldman B, Spiering W, Coenen M, Franke B, Tack C, et al. The Arg16Gly variant of the beta2-adrenergic receptor predisposes to hypoglycemia unawareness in type 1 diabetes mellitus. Pharmacogenet Genomics. 2008;18:369-72 pubmed publisher
    ..Future studies are required to confirm these results in larger, independent populations. ..
  53. Verhagen M, Martin J, van Deuren M, Ceuterick de Groote C, Weemaes C, Kremer B, et al. Neuropathology in classical and variant ataxia-telangiectasia. Neuropathology. 2012;32:234-44 pubmed publisher
    ..Progeric changes were lacking. In conclusion, compared to classical A-T, the variant A-T patient showed essentially the same, only slightly milder neuropathological abnormalities, except for anterior horn degeneration. ..
  54. Gellekink H, Muntjewerff J, Vermeulen S, Hermus A, Blom H, den Heijer M. Catechol-O-methyltransferase genotype is associated with plasma total homocysteine levels and may increase venous thrombosis risk. Thromb Haemost. 2007;98:1226-31 pubmed
    ..61 [95% CI 0.97 to 2.65], p = 0.06) compared to control subjects. We show that the COMT rs4680 variant modulates tHcy, and might be associated with venous thrombosis risk as well. ..
  55. Tilburg J, Roest H, Nabuurs Franssen M, Horrevorts A, Klaassen C. Genotyping reveals the presence of a predominant genotype of Coxiella burnetii in consumer milk products. J Clin Microbiol. 2012;50:2156-8 pubmed publisher
    ..MLVA genotyping shows that this is the result of the presence of a predominant C. burnetii genotype in the dairy cattle population...
  56. de Rijke B, van Horssen Zoetbrood A, Beekman J, Otterud B, Maas F, Woestenenk R, et al. A frameshift polymorphism in P2X5 elicits an allogeneic cytotoxic T lymphocyte response associated with remission of chronic myeloid leukemia. J Clin Invest. 2005;115:3506-16 pubmed
    ..These findings illustrate that the P2X5-encoded mHAg LRH-1 could be an attractive target for specific immunotherapy to treat hematological malignancies recurring after allogeneic stem cell transplantation. ..
  57. Vissers L, Fano V, Martinelli D, Campos Xavier B, Barbuti D, Cho T, et al. Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). Am J Med Genet A. 2011;155A:2609-16 pubmed publisher
    ..Thus, somatic mutations in IDH1 may explain all features of MC-HGA, including sporadic occurrence, metaphyseal disorganization, and chondromatosis, urinary excretion of D-2-hydroxy-glutaric acid, and reduced cerebral myelinization...
  58. Dura P, Bregitha C, Te Morsche R, Roelofs H, Kristinsson J, Wobbes T, et al. EPHX1 polymorphisms do not modify esophageal carcinoma susceptibility in Dutch Caucasians. Oncol Rep. 2012;27:1710-6 pubmed publisher
    ..In conclusion, the polymorphisms in exon 3 and exon 4 of the EPHX1 gene do not seem to be modifiers of esophageal squamous cell carcinoma or esophageal adenocarcinoma risk in Dutch Caucasians. ..
  59. van Ingen J, Boeree M, de Lange W, de Haas P, van der Zanden A, Mijs W, et al. Mycobacterium noviomagense sp. nov.; clinical relevance evaluated in 17 patients. Int J Syst Evol Microbiol. 2009;59:845-9 pubmed publisher
    ..nov. is proposed for the novel strains. The type strain is NLA000500338(T) (=DSM 45145(T)=CIP 109766(T)). A more distinctive taxonomy of NTM is a prerequisite for the assessment of their clinical relevance. ..
  60. van de Nieuwenhof H, van Kempen L, De Hullu J, Bekkers R, Bulten J, Melchers W, et al. The etiologic role of HPV in vulvar squamous cell carcinoma fine tuned. Cancer Epidemiol Biomarkers Prev. 2009;18:2061-7 pubmed publisher
    ..Differentiated vulvar intraepithelial neoplasia-associated vulvar squamous cell carcinomas have a significantly worse prognosis. ..
  61. Bergboer J, Zeeuwen P, Irvine A, Weidinger S, Giardina E, Novelli G, et al. Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis. J Invest Dermatol. 2010;130:2057-61 pubmed publisher
    ..Subgroup analysis did not reveal an association with concomitant asthma. Our data suggest that the potential roles of skin barrier defects in the pathogenesis of AD and psoriasis are based on distinct genetic causes. ..
  62. Kalay E, Caylan R, Kiroglu A, Yasar T, Collin R, Heister J, et al. A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4. J Mol Med (Berl). 2007;85:397-404 pubmed
  63. Schipper P, Nonkes L, Karel P, Kiliaan A, Homberg J. Serotonin transporter genotype x construction stress interaction in rats. Behav Brain Res. 2011;223:169-75 pubmed publisher
    ..These data importantly contribute to the understanding of 5-HTT gene x environment interactions and show the risk of losing genotype effects by construction stress. ..
  64. Dura P, van Veen E, Salomon J, Te Morsche R, Roelofs H, Kristinsson J, et al. Barrett associated MHC and FOXF1 variants also increase esophageal carcinoma risk. Int J Cancer. 2013;133:1751-5 pubmed publisher
    ..Assessing the individual genetic susceptibility can help identify high risk patients more prone to benefit from (Barrett) surveillance programs. ..
  65. Quainoo S, Coolen J, van Hijum S, Huynen M, Melchers W, van Schaik W, et al. Whole-Genome Sequencing of Bacterial Pathogens: the Future of Nosocomial Outbreak Analysis. Clin Microbiol Rev. 2017;30:1015-1063 pubmed publisher
    ..We aimed to provide health care professionals with a guide to WGS outbreak analysis that highlights its benefits for hospitals and assists in the transition from conventional to WGS-based outbreak analysis. ..
  66. Raijmakers M, Roes E, Steegers E, Peters W. The C242T-polymorphism of the NADPH/NADH oxidase gene p22phox subunit is not associated with pre-eclampsia. J Hum Hypertens. 2002;16:423-5 pubmed
    ..Therefore, oxidative stress generated by NADPH/NADH oxidase probably does not play a role in the development of pre-eclampsia. ..
  67. Peters W, Te Morsche R, Roelofs H. Combined polymorphisms in UDP-glucuronosyltransferases 1A1 and 1A6: implications for patients with Gilbert's syndrome. J Hepatol. 2003;38:3-8 pubmed
  68. van der Logt E, Bergevoet S, Roelofs H, van Hooijdonk Z, te Morsche R, Wobbes T, et al. Genetic polymorphisms in UDP-glucuronosyltransferases and glutathione S-transferases and colorectal cancer risk. Carcinogenesis. 2004;25:2407-15 pubmed
    ..In conclusion, the data suggest that the presence of variant UGT1A6 and UGT1A7 genotypes with expected reduced enzyme activities, might enhance susceptibility to CRC. ..
  69. van Beynum I, Mooij C, Kapusta L, Heil S, den Heijer M, Blom H. Common 894G>T single nucleotide polymorphism in the gene coding for endothelial nitric oxide synthase (eNOS) and risk of congenital heart defects. Clin Chem Lab Med. 2008;46:1369-75 pubmed publisher
    ..This observation should be interpreted with caution because of the relatively small subgroups. Further study in a larger group of CHD subjects is required. ..
  70. Klaassen C. MLST versus microsatellites for typing Aspergillus fumigatus isolates. Med Mycol. 2009;47 Suppl 1:S27-33 pubmed publisher
    ..This (in)stability of individual microsatellite markers and alleles should be taken into account in the interpretation of microsatellite-based typing data. ..
  71. van der Logt E, te Morsche R, Groenendaal N, Roelofs H, de Metz M, van der Stappen J, et al. Genetic polymorphism in UDP-glucuronosyltransferase 2B7 and colorectal cancer risk. Oncol Res. 2009;17:323-9 pubmed
    ..In conclusion, the frequency of the UGT2B7*2*2 genotype is higher in CRC patients with proximal location of the tumor, especially in males, which suggests that this genotype is associated with an increased risk for proximal CRC. ..
  72. de Bot S, van den Elzen R, Mensenkamp A, Schelhaas H, Willemsen M, Knoers N, et al. Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations. J Neurol Neurosurg Psychiatry. 2010;81:1073-8 pubmed publisher
    ..A bimodal peak distribution in age at onset was found and an accompanying tremor as peculiar feature of SPG4. The pathogenicity of S44L, the first exon 4 mutation, and a possible autosomal recessive mode of inheritance are discussed. ..
  73. de Vries H, Te Morsche R, van Oijen M, Nagtegaal I, Peters W, de Jong D. The functional -765G?C polymorphism of the COX-2 gene may reduce the risk of developing crohn's disease. PLoS ONE. 2010;5:e15011 pubmed publisher
    ..No correlation was found between COX-2 diplotypes and clinical characteristics of IBD. The -765G?C polymorphism was associated with a reduced risk for developing Crohn's disease in a Dutch population. ..
  74. Voorhoeve P, van Mechelen W, Uitterlinden A, Delemarre van de Waal H, Lamberts S. Androgen receptor gene CAG repeat polymorphism in longitudinal height and body composition in children and adolescents. Clin Endocrinol (Oxf). 2011;74:732-5 pubmed publisher
    ..During puberty, these differences disappear, possibly overruled by a strongly developing hypothalamic-pituitary-gonadal axis. ..
  75. Camps S, van der Linden J, Li Y, Kuijper E, van Dissel J, Verweij P, et al. Rapid induction of multiple resistance mechanisms in Aspergillus fumigatus during azole therapy: a case study and review of the literature. Antimicrob Agents Chemother. 2012;56:10-6 pubmed publisher
    ..Furthermore, the median time between the last cultured wild-type isolate and the first azole-resistant isolate was 4 months (range, 3 weeks to 23 months), indicating a rapid induction of resistance...
  76. Bayjanov J, Molenaar D, Tzeneva V, Siezen R, van Hijum S. PhenoLink--a web-tool for linking phenotype to ~omics data for bacteria: application to gene-trait matching for Lactobacillus plantarum strains. BMC Genomics. 2012;13:170 pubmed publisher
    ..g., gene presence/absence (determined by e.g.: CGH or next-generation sequencing), gene expression (determined by e.g.: microarrays or RNA-seq), or metabolite abundance (determined by e.g.: GC-MS). ..
  77. van der Zanden L, Galesloot T, Feitz W, Brouwers M, Shi M, Knoers N, et al. Exploration of gene-environment interactions, maternal effects and parent of origin effects in the etiology of hypospadias. J Urol. 2012;188:2354-60 pubmed publisher
    ..For rs6932902 in ESR1 only maternally derived alleles appeared to increase hypospadias risk in offspring. Interactions between genetic and environmental factors may help to explain nonreplication in genetic studies of hypospadias. ..
  78. Mackay D, Borman A, Sui R, van den Born L, Berson E, Ocaka L, et al. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. Hum Mutat. 2013;34:1537-1546 pubmed publisher
    ..Some patients have remaining foveal cone structures (intact IS/OS junctions on OCT imaging) and remaining visual acuities, which may bode well for upcoming treatment trials. ..
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    ..Computationally efficient, it represents a flexible and powerful tool to study associations between high-dimensional datasets. The method is freely available via the SIM BioConductor package. ..
  80. Lievers K, Kluijtmans L, Boers G, Verhoef P, den Heijer M, Trijbels F, et al. Influence of a glutamate carboxypeptidase II (GCPII) polymorphism (1561C-->T) on plasma homocysteine, folate and vitamin B(12) levels and its relationship to cardiovascular disease risk. Atherosclerosis. 2002;164:269-73 pubmed
  81. van Schijndel J, Van Loo K, van Zweeden M, Djurovic S, Andreassen O, Hansen T, et al. Three-cohort targeted gene screening reveals a non-synonymous TRKA polymorphism associated with schizophrenia. J Psychiatr Res. 2009;43:1195-9 pubmed publisher
    ..Thus, TRKA signaling may represent a novel susceptibility pathway for schizophrenia. ..
  82. Olivier J, Jans L, Blokland A, Broers N, Homberg J, Ellenbroek B, et al. Serotonin transporter deficiency in rats contributes to impaired object memory. Genes Brain Behav. 2009;8:829-34 pubmed publisher
    ..Given its resemblance with the human SERT-linked polymorphic region and propensity to develop depression-like symptoms, our findings may contribute to further understanding of mechanisms underlying cognitive deficits in depression. ..
  83. Aarts E, Roelofs A, Franke B, Rijpkema M, Fernandez G, Helmich R, et al. Striatal dopamine mediates the interface between motivational and cognitive control in humans: evidence from genetic imaging. Neuropsychopharmacology. 2010;35:1943-51 pubmed publisher
  84. van der Zwaluw C, Engels R, Vermulst A, Rose R, Verkes R, Buitelaar J, et al. A serotonin transporter polymorphism (5-HTTLPR) predicts the development of adolescent alcohol use. Drug Alcohol Depend. 2010;112:134-9 pubmed publisher
    ..To gain more insight into the etiological role of genetic determinants of adolescent alcohol use, developmental approaches that distinguish between onset and continuation of drinking should be applied. ..
  85. Woudenberg Vrenken T, Sukinta A, van der Kemp A, Bindels R, Hoenderop J. Transient receptor potential melastatin 6 knockout mice are lethal whereas heterozygous deletion results in mild hypomagnesemia. Nephron Physiol. 2011;117:p11-9 pubmed publisher
    ..Heterozygous deletion of TRPM6 results in a mild hypomagnesemia. The Mg(2+)-enriched diet could not compensate for either embryonic lethality or hypomagnesemia caused by TRPM6 deficiency. ..
  86. van Schijndel J, van Zweeden M, Van Loo K, Djurovic S, Andreassen O, Hansen T, et al. Dual association of a TRKA polymorphism with schizophrenia. Psychiatr Genet. 2011;21:125-31 pubmed publisher
    ..An intriguing possibility is that this dual character of the TRKA SNP is caused by its interaction with endophenotypic and/or epistatic factors. ..
  87. Bita C, Zenoni S, Vriezen W, Mariani C, Pezzotti M, Gerats T. Temperature stress differentially modulates transcription in meiotic anthers of heat-tolerant and heat-sensitive tomato plants. BMC Genomics. 2011;12:384 pubmed publisher
    ..Based on the observed differences in response to MHS and on literature sources, we identified a number of candidate transcripts involved in heat-tolerance. ..
  88. Smailhodzic D, Klaver C, Klevering B, Boon C, Groenewoud J, Kirchhof B, et al. Risk alleles in CFH and ARMS2 are independently associated with systemic complement activation in age-related macular degeneration. Ophthalmology. 2012;119:339-46 pubmed publisher
    ..Especially the C3d/C3 ratio seems to be a strong marker for AMD. The findings suggest that CFH and ARMS2 share a common pathway in the pathogenesis of AMD. ..
  89. Bayjanov J, Starrenburg M, van der Sijde M, Siezen R, van Hijum S. Genotype-phenotype matching analysis of 38 Lactococcus lactis strains using random forest methods. BMC Microbiol. 2013;13:68 pubmed publisher
  90. van Beynum I, Kouwenberg M, Kapusta L, den Heijer M, van der Linden I, Daniels O, et al. MTRR 66A>G polymorphism in relation to congenital heart defects. Clin Chem Lab Med. 2006;44:1317-23 pubmed
    ..Maternal MTRR 66GG genotype with compromised vitamin B(12) status may possibly result in increased CHD risk. In addition to folate, vitamin B(12) supplementation may contribute to the prevention of CHD. ..
  91. Radstake T, Franke B, Wenink M, Nabbe K, Coenen M, Welsing P, et al. The functional variant of the inhibitory Fcgamma receptor IIb (CD32B) is associated with the rate of radiologic joint damage and dendritic cell function in rheumatoid arthritis. Arthritis Rheum. 2006;54:3828-37 pubmed
    ..Our results underscore the key role of DCs in the progression of RA and reveal FcgammaRIIb as an important potential therapeutic target in RA and other autoimmune conditions. ..
  92. den Hollander A, Lopez I, Yzer S, Zonneveld M, Janssen I, Strom T, et al. Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. Invest Ophthalmol Vis Sci. 2007;48:5690-8 pubmed
    ..Significant homozygous regions which did not map to known LCA or juvenile RP genes and may be instrumental in identifying novel disease genes were detected in 33 patients. ..