Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study
van de Putte, Romy, van Rooij, Iris A L M, Marcelis, Carlo L M, Guo, Michel, Brunner, Han G, Addor, Marie-Claude, Cavero-Carbonell, Clara, Dias, Carlos M, Draper, Elizabeth S, Etxebarriarteun, Larraitz, Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Klungsoyr, Kari, Kurinczuk, Jenny J, Lanzoni, Monica, Latos-Bielenska, Anna, Luyt, Karen, O'Mahony, Mary T, Miller, Nicola, Mullaney, Carmel, Nelen, Vera, Neville, Amanda J, Perthus, Isabelle, Pierini, Anna, Randrianaivo, Hanitra, Rankin, Judith, Rissmann, Anke, Rouget, Florence, Schaub, Bruno, Tucker, David, Wellesley, Diana, Wiesel, Awi, Zymak-Zakutnia, Natalya, Loane, Maria, Barisic, Ingeborg, de Walle, Hermien E K, Roeleveld, Nel, Bergman, Jorieke E H
Published in Pediatric research (01.02.2020)
Published in Pediatric research (01.02.2020)
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The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene
Stevens, Servi J. C., Stumpel, Constance T. R. M., Diderich, Karin E. M., Slegtenhorst, Marjon A., Abbott, Mary‐Alice, Manning, Courtney, Balciuniene, Jorune, Pyle, Louise C., Leonard, Jacqueline, Murrell, Jill R., Putte, Romy, Rooij, Iris A. L. M., Hoischen, Alexander, Lasko, Paul, Brunner, Han G.
Published in Clinical genetics (01.02.2022)
Published in Clinical genetics (01.02.2022)
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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, Romy, Wijers, Charlotte H W, Reutter, Heiko, Vermeulen, Sita H, Marcelis, Carlo L M, Brosens, Erwin, Broens, Paul M A, Homberg, Markus, Ludwig, Michael, Jenetzky, Ekkehart, Zwink, Nadine, Sloots, Cornelius E J, de Klein, Annelies, Brooks, Alice S, Hofstra, Robert M W, Holsink, Sophie A C, van der Zanden, Loes F M, Galesloot, Tessel E, Tam, Paul Kwong-Hang, Steehouwer, Marloes, Acuna-Hidalgo, Rocio, Vorst, Maartje van de, Kiemeney, Lambertus A, Garcia-Barceló, Maria-Mercè, de Blaauw, Ivo, Brunner, Han G, Roeleveld, Nel, van Rooij, Iris A L M
Published in PloS one (28.05.2019)
Published in PloS one (28.05.2019)
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Maternal risk associated with the VACTERL association: A case–control study
Putte, Romy, Walle, Hermien E. K., Hooijdonk, Kirsten J. M., Blaauw, Ivo, Marcelis, Carlo L. M., Heijst, Arno, Giltay, Jacques C., Renkema, Kirsten Y., Broens, Paul M. A., Brosens, Erwin, Sloots, Cornelius E. J., Bergman, Jorieke E. H., Roeleveld, Nel, Rooij, Iris A. L. M.
Published in Birth defects research (01.11.2020)
Published in Birth defects research (01.11.2020)
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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
Putte, Romy, Blaauw, Ivo, Boenink, Rianne, Reijers, Monique H.E., Broens, Paul M.A., Sloots, Cornelius E.J., Heijst, Arno F.J., Gelder, Marleen M.H.J., Roeleveld, Nel, Rooij, Iris A.L.M.
Published in Birth defects research (15.01.2019)
Published in Birth defects research (15.01.2019)
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Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations
Haghshenas, Sadegheh, Karimi, Karim, Stevenson, Roger E., Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, Rzasa, Jessica, McConkey, Haley, Lauzon-Young, Carolyn, Balci, Tugce B., White-Brown, Alexandre M., Carter, Melissa T., Richer, Julie, Armour, Christine M., Sawyer, Sarah L., Bhola, Priya T., Tedder, Matthew L., Skinner, Cindy D., van Rooij, Iris A.L.M., van de Putte, Romy, de Blaauw, Ivo, Koeck, Rebekka M., Hoischen, Alexander, Brunner, Han, Esteki, Masoud Zamani, Pelet, Anna, Lyonnet, Stanislas, Amiel, Jeanne, Boycott, Kym M., Sadikovic, Bekim
Published in American journal of human genetics (08.08.2024)
Published in American journal of human genetics (08.08.2024)
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Maternal diabetes and assisted reproductive techniques as maternal risk factors for the VACTERL association using data of EUROCAT registries and the distribution of VACTERL anomalies among VACTERL patients of EUROCAT
van de Putte, Romy, van Rooij, Iris A.L.M., Roeleveld, Nel, Loane, Maria, Barisic, Ingeborg, Bergman, Jorieke E.H., de Walle, Hermien E.K.
Published in European journal of medical genetics (01.09.2018)
Published in European journal of medical genetics (01.09.2018)
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Journal Article
Maternal smoking and lack of folic acid supplement use during the periconceptional period as risk factors for the VACTERL association using data of the AGORA data- and Biobank and the EUROCAT Northern Netherlands registry
van de Putte, Romy, van Hooijdonk, Kirsten, de Blaauw, Ivo, Bergman, Jorieke E.H., de Walle, Hermien E.K., Roeleveld, Nel, van Rooij, Iris A.L.M.
Published in European journal of medical genetics (01.09.2018)
Published in European journal of medical genetics (01.09.2018)
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Journal Article
Previous miscarriages and GLI2 are associated with anorectal malformations in offspring
van de Putte, Romy, Wijers, Charlotte H.W., de Blaauw, Ivo, Marcelis, Carlo L.M., Sloots, Cornelius E.J., Brooks, Alice S., Broens, Paul M.A., Roeleveld, Nel, van der Zanden, Loes F.M., van Rooij, Iris A.L.M.
Published in Human reproduction (Oxford) (01.02.2017)
Published in Human reproduction (Oxford) (01.02.2017)
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Journal Article
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies
van de Putte, Romy, Dworschak, Gabriel C., Brosens, Erwin, Reutter, Heiko M., Marcelis, Carlo L. M., Acuna-Hidalgo, Rocio, Kurtas, Nehir E., Steehouwer, Marloes, Dunwoodie, Sally L., Schmiedeke, Eberhard, Märzheuser, Stefanie, Schwarzer, Nicole, Brooks, Alice S., de Klein, Annelies, Sloots, Cornelius E. J., Tibboel, Dick, Brisighelli, Giulia, Morandi, Anna, Bedeschi, Maria F., Bates, Michael D., Levitt, Marc A., Peña, Alberto, de Blaauw, Ivo, Roeleveld, Nel, Brunner, Han G., van Rooij, Iris A. L. M., Hoischen, Alexander
Published in Frontiers in pediatrics (23.06.2020)
Published in Frontiers in pediatrics (23.06.2020)
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Sequencing of the DKK1 gene in patients with anorectal malformations and hypospadias
van de Putte, Romy, Wijers, Charlotte H. W., de Blaauw, Ivo, Feitz, Wout F. J., Marcelis, Carlo L. M., Hakobjan, Marina, Sloots, Cornelius E. J., van Bever, Yolande, Brunner, Han G., Roeleveld, Nel, van Rooij, Iris A. L. M., van der Zanden, Loes F. M.
Published in European journal of pediatrics (01.05.2015)
Published in European journal of pediatrics (01.05.2015)
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