Researchers – Publications – Anorectal malformations

A genetics-first approach revealed monogenic disorders in patients with ARM and VACTERL anomalies.

van de Putte R, Dworschak GC, Brosens E, Reutter HM, Marcelis CLM, Acuna-Hidalgo R, Kurtas NE, Steehouwer M, Dunwoodie SL, Schmiedeke E, Märzheuser S, Schwarzer N, Brooks AS, de Klein A, Sloots CEJ, Tibboel D, Brisighelli G, Morandi A, Bedeschi MF, Bates MD, Levitt MA, Peña A, de Blaauw I, Roeleveld N, Brunner HG, van Rooij IALM, Hoischen A. Front Pediatr 2020;8:310.

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Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.

van de Putte R, Wijers CHW, Reutter H, Vermeulen SH, Marcelis CLM, Brosens E, Broens PMA, Homberg M, Ludwig M, Jenetzky E, Zwink N, Sloots CEJ, de Klein A, Brooks AS, Hofstra RMW, Holsink SAC, van der Zanden LFM, Galesloot TE, Tam PK, Steehouwer M, Acuna-Hidalgo R, Vorst MV, Kiemeney LA, Garcia-Barcelo MM, de Blaauw I, Brunner HG, Roeleveld N, van Rooij I. PLoS One 2019;14:e0217477.

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Uncontrolled maternal chronic respiratory diseases in pregnancy: a new potential risk factor suggested to be associated with anorectal malformations in offspring.

van de Putte R, de Blaauw I, Boenink R, Reijers MHE, Broens PMA, Sloots CEJ, van Heijst AFJ, van Gelder MMHJ, Roeleveld N, van Rooij IALM. Birth Defects Res 2019;111:62-69.

 

Previous miscarriages and GLI2 are associated with anorectal malformations in offspring.

van de Putte R, Wijers CH, de Blaauw I, Marcelis CL, Sloots CE, Brooks AS, Broens PM, Roeleveld N, van der Zanden LF, van Rooij IA. Hum Reprod 2017;32:299-306.

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Parental subfertility, fertility treatment and the risk of congenital anorectal malformations.

Wijers CHW, van Rooij IALM, Rassouli R, Wijnen MH, Broens PMA, Sloots CEJ, Brunner HG, de Blaauw I, Roeleveld N. Epidemiology 2015;26:169-176.

 

No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations.

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. Birth Defects Res A Clin Mol Teratol 2014;100:483-492.

 

Genetic and nongenetic etiology of nonsyndromic anorectal malformations: A systematic review

Wijers CHW, van Rooij IALM, Marcelis CLM, Brunner HG, de Blaauw I, Roeleveld N. Birth Defects Res C Embryo Today 2014;102:382-400.

 

First results of a European multi-center registry of patients with anorectal malformations.

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. J Pediatr Surg 2013;48:2530-2535.

 

Anorectal malformations and pregnancy-related disorders: a registry-based case-control study in 17 European regions.

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.
BJOG 2013;120:1066-1074.

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Bias in patient series with VACTERL association.

Jenetzky E, Wijers CH, Marcelis CM, Zwink N, Reutter H, van Rooij IALM. Am J Med Genet A 2011;155A:2039-2041.

 

Maternal and paternal risk factors for anorectal malformations: a Dutch case-control study.

van Rooij IALM, Wijers CH, Rieu PN, Hendriks HS, Brouwers MM, Knoers NV, de Blaauw I, Roeleveld N. Birth Defects Res A Clin Mol Teratol 2010;88:152-158.

 

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.

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. Pediatr Surg Int 2010;26:1093-1099.

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