A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance
Hageman, Isabel C, van Rooij, Iris A L M, de Blaauw, Ivo, Trajanovska, Misel, King, Sebastian K
Published in Orphanet journal of rare diseases (05.05.2023)
Published in Orphanet journal of rare diseases (05.05.2023)
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Common needs in uncommon conditions: a qualitative study to explore the need for care in pediatric patients with rare diseases
Smits, Rosanne M, Vissers, Eline, Te Pas, Rosan, Roebbers, Noor, Feitz, Wout F J, van Rooij, Iris A L M, de Blaauw, Ivo, Verhaak, Chris M
Published in Orphanet journal of rare diseases (04.04.2022)
Published in Orphanet journal of rare diseases (04.04.2022)
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Surgical Complications in Children with CDH: A Multivariate Analysis
Heiwegen, Kim, van Rooij, Iris A. L. M., van Heijst, Arno, de Blaauw, Ivo, Botden, Sanne M. B. I.
Published in World journal of surgery (01.06.2020)
Published in World journal of surgery (01.06.2020)
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Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
Saisawat, Pawaree, Kohl, Stefan, Hilger, Alina C., Hwang, Daw-Yang, Yung Gee, Heon, Dworschak, Gabriel C., Tasic, Velibor, Pennimpede, Tracie, Natarajan, Sivakumar, Sperry, Ethan, Matassa, Danilo S., Stajić, Nataša, Bogdanovic, Radovan, de Blaauw, Ivo, Marcelis, Carlo L.M., Wijers, Charlotte H.W., Bartels, Enrika, Schmiedeke, Eberhard, Schmidt, Dominik, Märzheuser, Stefanie, Grasshoff-Derr, Sabine, Holland-Cunz, Stefan, Ludwig, Michael, Nöthen, Markus M., Draaken, Markus, Brosens, Erwin, Heij, Hugo, Tibboel, Dick, Herrmann, Bernhard G., Solomon, Benjamin D., de Klein, Annelies, van Rooij, Iris A.L.M., Esposito, Franca, Reutter, Heiko M., Hildebrandt, Friedhelm
Published in Kidney international (01.06.2014)
Published in Kidney international (01.06.2014)
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Genome-wide association analyses identify variants in developmental genes associated with hypospadias
Geller, Frank, Feenstra, Bjarke, Carstensen, Lisbeth, Pers, Tune H, van Rooij, Iris A L M, Körberg, Izabella Baranowska, Choudhry, Shweta, Karjalainen, Juha M, Schnack, Tine H, Hollegaard, Mads V, Feitz, Wout F J, Roeleveld, Nel, Hougaard, David M, Hirschhorn, Joel N, Franke, Lude, Baskin, Laurence S, Nordenskjöld, Agneta, van der Zanden, Loes F M, Melbye, Mads
Published in Nature genetics (01.09.2014)
Published in Nature genetics (01.09.2014)
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Bowel function and associated risk factors at preschool and early childhood age in children with anorectal malformation type rectovestibular fistula: An ARM-Net consortium study
van der Steeg, Hendrik J.J., van Rooij, Iris A.L.M., Iacobelli, Barbara D., Sloots, Cornelius E.J., Morandi, Anna, Broens, Paul M.A., Makedonsky, Igor, Leon, Francesco Fascetti, Schmiedeke, Eberhard, Vázquez, Araceli García, Miserez, Marc, Lisi, Gabriele, Midrio, Paola, Amerstorfer, Eva E., Fanjul, Maria, Ludwiczek, Johanna, Stenström, Pernilla, van der Steeg, Alida F.W., de Blaauw, Ivo
Published in Journal of pediatric surgery (01.09.2022)
Published in Journal of pediatric surgery (01.09.2022)
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Health-related quality of life in children with congenital vascular malformations
Bouwman, Frédérique C. M., Verhaak, Chris, de Blaauw, Ivo, Kool, Leo J. Schultze, Loo, D. Maroeska W. M. te, van Rooij, Iris A. L. M., van der Vleuten, Carine J. M., Botden, Sanne M. B. I., Verhoeven, Bas H.
Published in European journal of pediatrics (01.11.2023)
Published in European journal of pediatrics (01.11.2023)
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Journal Article
The European Anorectal Malformation Network (ARM-Net) patient registry: 10-year review of clinical and surgical characteristics
Hageman, Isabel C, Midrio, Paola, van der Steeg, Hendrik J J, Jenetzky, Ekkehart, Iacobelli, Barbara D, Morandi, Anna, Sloots, Cornelius E J, Schmiedeke, Eberhard, Broens, Paul M A, Fascetti Leon, Francesco, Çavuşoğlu, Yusuf H, Gorter, Ramon R, Trajanovska, Misel, King, Sebastian K, Aminoff, Dalia, Schwarzer, Nicole, Haanen, Michel, de Blaauw, Ivo, van Rooij, Iris A L M
Published in British journal of surgery (31.01.2024)
Published in British journal of surgery (31.01.2024)
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Genetic Counseling and Diagnostics in Anorectal Malformation
Marcelis, Carlo, Dworschak, Gabriel, de Blaauw, Ivo, van Rooij, Iris A L M
Published in European journal of pediatric surgery (01.12.2021)
Published in European journal of pediatric surgery (01.12.2021)
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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 risk factors involved in specific congenital anomalies of the kidney and urinary tract: A case-control study
Groen In 't Woud, Sander, Renkema, Kirsten Y, Schreuder, Michiel F, Wijers, Charlotte H W, van der Zanden, Loes F M, Knoers, Nine V A M, Feitz, Wout F J, Bongers, Ernie M H F, Roeleveld, Nel, van Rooij, Iris A L M
Published in Birth defects research. A Clinical and molecular teratology (01.07.2016)
Published in Birth defects research. A Clinical and molecular teratology (01.07.2016)
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Rectal atresia and rectal stenosis: the ARM-Net Consortium experience
de Beaufort, Cunera M. C., Gorter, Ramon R., Iacobelli, Barbara D., Midrio, Paola, Sloots, Cornelius E. J., Samuk, Inbal, van Rooij, Iris A. L. M., Lisi, Gabriele
Published in Pediatric surgery international (28.07.2023)
Published in Pediatric surgery international (28.07.2023)
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The clinical efficacy and cost effectiveness of the vacuum-assisted closure technique in the management of acute and chronic wounds: a randomized controlled trial
Braakenburg, Assa, Obdeijn, Miryam C, Feitz, Reinier, van Rooij, Iris A L M, van Griethuysen, Arjanne J, Klinkenbijl, Jean H G
Published in Plastic and reconstructive surgery (1963) (01.08.2006)
Published in Plastic and reconstructive surgery (1963) (01.08.2006)
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First results of a European multi-center registry of patients with anorectal malformations
de Blaauw, Ivo, Wijers, Charlotte H.W, Schmiedeke, Eberhard, Holland-Cunz, Stefan, Gamba, Piergiorgio, Marcelis, Carlo L.M, Reutter, Heiko, Aminoff, Dalia, Schipper, Muriel, Schwarzer, Nicole, Grasshoff-Derr, Sabine, Midrio, Paola, Jenetzky, Ekkehart, van Rooij, Iris A.L.M
Published in Journal of pediatric surgery (01.12.2013)
Published in Journal of pediatric surgery (01.12.2013)
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Long-term follow-up of functional outcome in patients with a cloacal malformation: A systematic review
Versteegh, Hendt P, van Rooij, Iris A.L.M, Levitt, Marc A, Sloots, Cornelius E.J, Wijnen, Rene M.H, de Blaauw, Ivo
Published in Journal of pediatric surgery (01.11.2013)
Published in Journal of pediatric surgery (01.11.2013)
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Journal Article
Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT
Nicolaou, Nayia, Pulit, Sara L., Nijman, Isaac J., Monroe, Glen R., Feitz, Wout F.J., Schreuder, Michiel F., van Eerde, Albertien M., de Jong, Tom P.V.M., Giltay, Jacques C., van der Zwaag, Bert, Havenith, Marlies R., Zwakenberg, Susan, van der Zanden, Loes F.M., Poelmans, Geert, Cornelissen, Elisabeth A.M., Lilien, Marc R., Franke, Barbara, Roeleveld, Nel, van Rooij, Iris A.L.M., Cuppen, Edwin, Bongers, Ernie M.H.F., Giles, Rachel H., Knoers, Nine V.A.M., Renkema, Kirsten Y.
Published in Kidney international (01.02.2016)
Published in Kidney international (01.02.2016)
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Deletions and loss-of-function variants in TP63 associated with orofacial clefting
Khandelwal, Kriti D, van den Boogaard, Marie-José H, Mehrem, Sarah L, Gebel, Jakob, Fagerberg, Christina, van Beusekom, Ellen, van Binsbergen, Ellen, Topaloglu, Ozan, Steehouwer, Marloes, Gilissen, Christian, Ishorst, Nina, van Rooij, Iris A L M, Roeleveld, Nel, Christensen, Kaare, Schoenaers, Joseph, Bergé, Stefaan, Murray, Jeffrey C, Hens, Greet, Devriendt, Koen, Ludwig, Kerstin U, Mangold, Elisabeth, Hoischen, Alexander, Zhou, Huiqing, Dötsch, Volker, Carels, Carine E L, van Bokhoven, Hans
Published in European journal of human genetics : EJHG (01.07.2019)
Published in European journal of human genetics : EJHG (01.07.2019)
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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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Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis
Ockeloen, Charlotte W., Khandelwal, Kriti D., Dreesen, Karoline, Ludwig, Kerstin U., Sullivan, Robert, van Rooij, Iris A.L.M., Thonissen, Michelle, Swinnen, Steven, Phan, Milien, Conte, Federica, Ishorst, Nina, Gilissen, Christian, Roa Fuentes, Laury, van de Vorst, Maartje, Henkes, Arjen, Steehouwer, Marloes, van Beusekom, Ellen, Bloemen, Marjon, Vankeirsbilck, Bruno, Bergé, Stefaan, Hens, Greet, Schoenaers, Joseph, Vander Poorten, Vincent, Roosenboom, Jasmien, Verdonck, An, Devriendt, Koen, Roeleveldt, Nel, Jhangiani, Shalini N., Vissers, Lisenka E.L.M., Lupski, James R., de Ligt, Joep, Von den Hoff, Johannes W., Pfundt, Rolph, Brunner, Han G., Zhou, Huiqing, Dixon, Jill, Mangold, Elisabeth, van Bokhoven, Hans, Dixon, Michael J., Kleefstra, Tjitske, Hoischen, Alexander, Carels, Carine E.L.
Published in Genetics in medicine (01.11.2016)
Published in Genetics in medicine (01.11.2016)
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Exploration of Gene-Environment Interactions, Maternal Effects and Parent of Origin Effects in the Etiology of Hypospadias
van der Zanden, Loes F.M, Galesloot, Tessel E, Feitz, Wout F.J, Brouwers, Marijn M, Shi, Min, Knoers, Nine V.A.M, Franke, Barbara, Roeleveld, Nel, van Rooij, Iris A.L.M
Published in The Journal of urology (01.12.2012)
Published in The Journal of urology (01.12.2012)
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