Hypospadias

  1. LFM van der Zanden, IALM van Rooij, WFJ Feitz, B Franke, NVAM Knoers, N Roeleveld. Aetiology of hypospadias: A systematic review of genes and environment. Hum Reprod Update 2012;18:260-283. (http://www.ncbi.nlm.nih.gov/pubmed/22371315)
  2. MM Brouwers, LFM van der Zanden, RPE de Gier, EJ Barten, GA Zielhuis, WFJ Feitz, N Roeleveld. Hypospadias: Risk factor patterns and different phenotypes. BJU Int 2010;105:254–262.(http://www.ncbi.nlm.nih.gov/pubmed/19751252)
  3. IALM van Rooij, LFM van der Zanden, MM Brouwers, NVAM Knoers, WFJ Feitz, N Roeleveld. Risk factors for different phenotypes of hypospadias: results from a Dutch case-control study. BJU Int 2013;112:121-128. (http://www.ncbi.nlm.nih.gov/pubmed/23305310)
  4. LFM van der Zanden, IALM van Rooij, WFJ Feitz, SHHM Vermeulen, LALM Kiemeney, NVAM Knoers, N Roeleveld, B Franke. Genetics of hypospadias: Are single-nucleotide polymorphisms in SRD5A2, ESR1, ESR2, and ATF3 really associated with the malformation? J Clin Endocrinol Metab 2010;95:2384-2390.(http://www.ncbi.nlm.nih.gov/pubmed/20215396)
  5. LFM van der Zanden, TE Galesloot, WFJ Feitz, MM Brouwers, M Shi, NVAM Knoers, B Franke, N Roeleveld, IALM van Rooij. Exploration of gene-environment interactions, maternal effects, and parent-of-origin effects in the etiology of hypospadias. J Urol 2012;188:2354-2360. (http://www.ncbi.nlm.nih.gov/pubmed/23088992)
  6. LFM van der Zanden, IALM van Rooij, WFJ Feitz, J Knight, ART Donders, KY Renkema, EMHF Bongers, SHHM Vermeulen, LALM Kiemeney, JA Veltman, A Arias-Vásquez, X Zhang, E Markljung, L Qiao, LS Baskin, A Nordenskjöld, N Roeleveld, B Franke, NVAM Knoers. Common variants in DGKK are strongly associated with risk of hypospadias. Nat Genet 2011:43:48-50. (http://www.ncbi.nlm.nih.gov/pubmed/21113153)
  7. Brouwers MM, Feitz WF, Roelofs LA, Kiemeney LA, de Gier RP, Roeleveld N. Risk factors for hypospadias. Eur J Pediatr 2007 Jul;166(7):671-8. (http://www.ncbi.nlm.nih.gov/pubmed/17103190)
  8. Brouwers MM, Feitz WF, Roelofs LA, Kiemeney LA, de Gier RP, Roeleveld N. Hypospadias: a transgenerational effect of diethylstilbestrol? Hum Reprod 2006 Mar;21(3):666-9. (http://www.ncbi.nlm.nih.gov/pubmed/16293648)
  9.  F Geller, B Feenstra, L Carstensen, TH Pers, IALM van Rooij, I Baranowska Körberg, S Choudhry, J Karjalainen, TH Schnack, MV Hollegaard, WFJ Feitz, N Roeleveld, DM Hougaard, JN Hirschhorn, L Franke, LS Baskin, A Nordenskjöld, LFM van der Zanden, M Melbye. Genome-Wide Association Study identifies variants in developmental genes associated with hypospadias. Nat Genet 2014;46:957-63. (http://www.ncbi.nlm.nih.gov/pubmed/25108383)
  10.  C Söderhäll, I Baranowska Körberg, HTT Thai, J Cao, Y Chen, X Zhang, Z Shulu, LFM van der Zanden, IALM van Rooij, L Frisén, N Roeleveld, E Markljung, I Kockum, A Nordenskjöld. Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias. EJHG 2015;in press. (http://www.ncbi.nlm.nih.gov/pubmed/24986825)
  11.  R van de Putte, CHW Wijers, I de Blaauw, WFJ Feitz, CLM Marcelis, M Hakobjan, CEJ Sloots, Y van Bever, HG Brunner, N Roeleveld, IALM van Rooij, LFM van der Zanden. Eur J Pediatr 2015; in press. Sequencing of the DKK1 gene in patients with anorectal malformations and hypospadias. (http://www.ncbi.nlm.nih.gov/pubmed/25319845)

Kidney malformations

  1. Renkema KY, Winyard PJ, Skovorodkin IN, Levtchenko E, Hindryckx A, Jeanpierre C, Weber S, Salomon R, Antignac C, Vainio S, Schedl A, Schaefer F, Knoers NV, Bongers EM; EUCAKUT consortium. Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT). Nephrol Dial Transplant 2011 Dec;26(12):3843-3851 (http://www.ncbi.nlm.nih.gov/pubmed/22121240)
  2. Schreuder MF, Renkema KY. Association between maternal diabetes and renal malformations in the offspring: more than environmental factors. Birth Defects Res A Clin Mol Teratol 2011 Feb;91(2):125. In dit korte artikel wordt ingegaan op een voorheen gepubliceerd artikel van Davis (2010). (http://www.ncbi.nlm.nih.gov/pubmed/21254367)

Anorectal malformations

  1. van Rooij IALM, Wijers CH, Rieu PN, Hendriks HS, Brouwers MM, Knoers NV, de Blaauw I, Roeleveld N. Maternal and paternal risk factors for anorectal malformations: a Dutch case-control study. Birth Defects Res A Clin Mol Teratol 2010;88:152-158. (http://www.ncbi.nlm.nih.gov/pubmed/20073076)
  2. Wijers CH, de Blaauw I, Marcelis CL, Wijnen RM, Brunner H, Midrio P, Gamba P, Clementi M, Jenetzky E, Zwink N, Reutter H, Bartels E, Grasshoff-Derr S, Holland-Cunz S, Hosie S, Märzheuser S, Schmiedeke E, Crétolle C, Sarnacki S, Levitt MA, Knoers NV, Roeleveld N, van Rooij IALM.  Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations. Pediatr Surg Int 2010;26:1093-1099.(http://www.ncbi.nlm.nih.gov/pubmed/20730541)
  3. Jenetzky E, Wijers CH, Marcelis CM, Zwink N, Reutter H, van Rooij IALM. Bias in patient series with VACTERL association. Am J Med Genet A 2011;155A:2039-2041. (http://www.ncbi.nlm.nih.gov/pubmed/21739573)
  4.  Wijers CHW, van Rooij IALM, Rassouli R, Wijnen MH, Broens PMA, Sloots CEJ, Brunner HG, de Blaauw I, Roeleveld N. Parental subfertility, fertility treatment and the risk of congenital anorectal malformations. Epidemiology. 2015 Jan 5. [Epub ahead of print] (http://www.ncbi.nlm.nih.gov/pubmed/25563433)
  5.  Wijers CHW, van Rooij IALM, Marcelis CLM, Brunner HG, de Blaauw I, Roeleveld N. Birth Defects Res C Embryo Today. Genetic and nongenetic etiology of nonsyndromic anorectal malformations: A systematic review. 2014;102(4):382-400 (http://www.ncbi.nlm.nih.gov/pubmed/25546370)
  6.  Wijers CHW, de Blaauw I, Zwink N, Draaken M, van der Zanden LFM, Brunner HG, Brooks AS, Hofstra RM, Sloots CEJ, Broens PMA, Wijnen MH, Ludwig M, Jenetzky E, Reutter H, Marcelis CLM, Roeleveld N, van Rooij IALM. No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations.

    Birth Defects Res A Clin Mol Teratol 2014;100(6):483-92. (http://www.ncbi.nlm.nih.gov/pubmed/24841934)

  7.  De Blaauw I, Wijers CHW, Schmiedeke E, Holland-Cunz S, Gamba P, Marcelis CLM, Reutter H, Aminoff D, Schipper M, Schwarzer N, Grasshoff-Derr S, Midrio P, Jenetzky E, van Rooij IALM. First results of a European multi-center registry of patients with anorectal malformations.

    J Pediatr Surg 2013;48(12):2530-5. (http://www.ncbi.nlm.nih.gov/pubmed/24314198)

  8. Wijers CHW, van Rooij IALM, Bakker MK, Marcelis CLM, Addor MC, Barisic I, Beres J, Bianca S, Bianchi F, Calzolari E, Lelong N, Latos-Bielenska A, Matias Dias C, McDonnell B, Mullaney C, Nelen V, O’Mahony M, Queisser-Luft A, Rankin J, Zymak-Zakutnia N, de Blaauw I, Roeleveld N, de Walle HEK. Anorectal malformations and pregnancy-related disorders: a registry-based case-control study in 17 European regions. BJOG 2013;120(9):1066-1074. (http://www.ncbi.nlm.nih.gov/pubmed/23574029)