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Iris A.L.M. van Rooij

Radboud University Medical Center

41H指数
147论文数
5.6K被引数
收录论文 41
发表时间
Addressing psychosocial vulnerability in rare diseases: a call to action from a European expert consensus study应对罕见病中的心理社会脆弱性:一项来自欧洲专家共识研究的行动呼吁
err2025-10-28
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errRosanne M. Smits; Aukje Aerts; Teodor Angelov; Marissa Bentele; Ivo de Blaauw; Michaela Dellenmark-Blom; Saskia F. A. Duijts; Krister Fjermestad; Monica Franscini; Caterina Grano; Sigrid Hendriks; Laura Inhestern; Thomas Kenny; Charlotte von der Lippe; Loes Oomen; Jan Peter Rake; Andre B. Rietman; Iris A. L. M. van Rooij; Chris M. Verhaak; Nicoline B. M. Voet; Holly Walton; Wendy van Zelst-Stams; Linda Kwakkenbos
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Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models
err2024-12-19
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errIshorst, Nina; Hoelzel, Selina; Greve, Carola; Yilmaz, Oeznur; Lindenberg, Tobias; Lambertz, Jessica; Drichel, Dmitriy; Zametica, Berina; Mingardo, Enrico; Kalanithy, Jeshurun C.; Channab, Khadija; Kibris, Duygu; Henne, Sabrina; Degenhardt, Franziska; Siewert, Anna; Dixon, Michael; Kruse, Teresa; Ongkosuwito, Edwin; Girisha, Katta M.; Pande, Shruti; Nowak, Stefanie; Hagelueken, Gregor; Geyer, Matthias; Carels, Carine; van Rooij, Iris A. L. M.; Ludwig, Kerstin U.; Odermatt, Benjamin; Mangold, Elisabeth
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Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations鉴定胚胎畸形复发星座的DNA甲基化epi签名
err2024-08-01
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PREAI
errHaghshenas, 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
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The European Anorectal Malformation Network (ARM-Net) patient registry: 10-year review of clinical and surgical characteristics
err2024-02-13
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errHageman, 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; Cavusoglu, 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.
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Health-related quality of life in children with congenital vascular malformations
err2023-09-04
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errBouwman, Frederique C. M.; Verhaak, Chris; de Blaauw, Ivo; Kool, Leo J. Schultze; te Loo, D. Maroeska W. M.; van Rooij, Iris A. L. M.; van der Vleuten, Carine J. M.; Botden, Sanne M. B. I.; Verhoeven, Bas H.
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A Genome-Wide Association Study into the Aetiology of Congenital Solitary Functioning Kidney
err2022-11-23
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errin't Woud, Sander Groen; Maj, Carlo; Renkema, Kirsten Y.; Westland, Rik; Galesloot, Tessel; van Rooij, Iris A. L. M.; Vermeulen, Sita H.; Feitz, Wout F. J.; Roeleveld, Nel; Schreuder, Michiel F.; van der Zanden, Loes F. M.; SOFIA Study Grp
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A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy
err2022-11-09
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errMingardo, Enrico; Beaman, Glenda; Grote, Philip; Nordenskjold, Agneta; Newman, William; Woolf, Adrian S.; Eckstein, Markus; Hilger, Alina C.; Dworschak, Gabriel C.; Roesch, Wolfgang; Ebert, Anne-Karolin; Stein, Raimund; Brusco, Alfredo; Di Grazia, Massimo; Tamer, Ali; Torres, Federico M.; Hernandez, Jose L.; Erben, Philipp; Maj, Carlo; Olmos, Jose M.; Riancho, Jose A.; Valero, Carmen; Hostettler, Isabel C.; Houlden, Henry; Werring, David J.; Schumacher, Johannes; Gehlen, Jan; Giel, Ann-Sophie; Buerfent, Benedikt C.; Arkani, Samara; Akesson, Elisabeth; Rotstein, Emilia; Ludwig, Michael; Holmdahl, Gundela; Giorgio, Elisa; Berettini, Alfredo; Keene, David; Cervellione, Raimondo M.; Younsi, Nina; Ortlieb, Melissa; Oswald, Josef; Haid, Bernhard; Promm, Martin; Neissner, Claudia; Hirsch, Karin; Stehr, Maximilian; Schafer, Frank-Mattias; Schmiedeke, Eberhard; Boemers, Thomas M.; van Rooij, Iris A. L. M.; Feitz, Wouter F. J.; Marcelis, Carlo L. M.; Lacher, Martin; Nelson, Jana; Ure, Benno; Fortmann, Caroline; Gale, Daniel P.; Chan, Melanie M. Y.; Ludwig, Kerstin U.; Noethen, Markus M.; Heilmann, Stefanie; Zwink, Nadine; Jenetzky, Ekkehart; Odermatt, Benjamin; Knapp, Michael; Reutter, Heiko
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First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B
err2022-04-01
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errGehlen, Jan; Giel, Ann-Sophie; Koellges, Ricarda; Haas, Stephan L.; Zhang, Rong; Trcka, Jiri; Sungur, Ayse O.; Renziehausen, Florian; Bornholdt, Dorothea; Jung, Daphne; Hoyer, Paul D.; Nordenskjold, Agneta; Tibboel, Dick; Vlot, John; Spaander, Manon C. W.; Smigiel, Robert; Patkowski, Dariusz; Roeleveld, Nel; van Rooij, Iris Alm; de Blaauw, Ivo; Hoelscher, Alice; Pauly, Marcus; Leutner, Andreas; Fuchs, Joerg; Niethammer, Joel; Melissari, Maria-Theodora; Jenetzky, Ekkehart; Zwink, Nadine; Thiele, Holger; Hilger, Alina Christine; Hess, Timo; Trautmann, Jessica; Marks, Matthias; Baumgarten, Martin; Blaess, Gaby; Landen, Mikael; Fundin, Bengt; Bulik, Cynthia M.; Pennimpede, Tracie; Ludwig, Michael; Ludwig, Kerstin U.; Mangold, Elisabeth; Heilmann-Heimbach, Stefanie; Moebus, Susanne; Herrmann, Bernhard G.; Alsabeah, Kristina; Burgos, Carmen M.; Lilja, Helene E.; Azodi, Sahar; Stenstrom, Pernilla; Arnbjornsson, Einar; Frybova, Barbora; Lebensztejn, Dariusz M.; Debek, Wojciech; Kolodziejczyk, Elwira; Kozera, Katarzyna; Kierkus, Jaroslaw; Kalicinski, Piotr; Stefanowicz, Marek; Socha-Banasiak, Anna; Kolejwa, Michal; Piaseczna-Piotrowska, Anna; Czkwianianc, Elzbieta; Noethen, Markus M.; Grote, Phillip; Rygl, Michal; Reinshagen, Konrad; Spychalski, Nicole; Ludwikowski, Barbara; Hubertus, Jochen; Heydweiller, Andreas; Ure, Benno; Muensterer, Oliver J.; Aubert, Ophelia; Gosemann, Jan-Hendrik; Lacher, Martin; Degenhardt, Petra; Boemers, Thomas M.; Mokrowiecka, Anna; Malecka-Panas, Ewa; Woehr, Markus; Knapp, Michael; Seitz, Guido; de Klein, Annelies; Oracz, Grzegorz; Brosens, Erwin; Reutter, Heiko; Schumacher, Johannes
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CDH12 as a Candidate Gene for Kidney Injury in Posterior Urethral Valve Cases: A Genome-wide Association Study Among Patients with Obstructive Uropathies
err2021-06-01
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errvan der Zanden, Loes F. M.; van Rooij, Iris A. L. M.; Quaedackers, Josine S. L. T.; Nijman, Rien J. M.; Steffens, Martijn; de Wall, Liesbeth L. L.; Bongers, Ernie M. H. F.; Schaefer, Franz; Kirchner, Marietta; Behnisch, Rouven; Bayazit, Aysun K.; Caliskan, Salim; Obrycki, Lukasz; Montini, Giovanni; Duzova, Ali; Wuttke, Matthias; Jennings, Rachel; Hanley, Neil A.; Milmoe, Natalie J.; Winyard, Paul J. D.; Renkema, Kirsten Y.; Schreuder, Michiel F.; Roeleveld, Nel; Feitz, Wout F. J.
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Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study
err2019-09-09
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errvan 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.
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Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction
err2019-05-01
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errKolvenbach, Caroline M.; Dworschak, Gabriel C.; Frese, Sandra; Japp, Anna S.; Schuster, Peggy; Wenzlitschke, Nina; Yilmaz, Oeznur; Lopes, Filipa M.; Pryalukhin, Alexey; Schierbaum, Luca; van der Zanden, Loes F. M.; Kause, Franziska; Schneider, Ronen; Taranta-Janusz, Katarzyna; Szczepanska, Maria; Pawlaczyk, Krzysztof; Newman, William G.; Beaman, Glenda M.; Stuart, Helen M.; Cervellione, Raimondo M.; Feitz, Wouter F. J.; van Rooij, Iris A. L. M.; Schreuder, Michiel F.; Steffens, Martijn; Weber, Stefanie; Merz, Waltraut M.; Feldkoetter, Markus; Hoppe, Bernd; Thiele, Holger; Altmueller, Janine; Berg, Christoph; Kristiansen, Glen; Ludwig, Michael; Reutter, Heiko; Woolf, Adrian S.; Hildebrandt, Friedhelm; Grote, Phillip; Zaniew, Marcin; Odermatt, Benjamin; Hilger, Alina C.
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Deletions and loss-of-function variants in TP63 associated with orofacial clefting
err2019-03-08
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errKhandelwal, Kriti D.; van den Boogaard, Marie-Jose 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; Berge, Stefaan; Murray, Jeffrey C.; Hens, Greet; Devriendt, Koen; Ludwig, Kerstin U.; Mangold, Elisabeth; Hoischen, Alexander; Zhou, Huiqing; Doetsch, Volker; Carels, Carine E. L.; van Bokhoven, Hans
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Previous miscarriages and GLI2 are associated with anorectal malformations in offspring
err2017-01-05
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errvan 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.
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Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing
err2016-11-13
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errKhandelwal, K. D.; Ishorst, N.; Zhou, H.; Ludwig, K. U.; Venselaar, H.; Gilissen, C.; Thonissen, M.; van Rooij, I. A. L. M.; Dreesen, K.; Steehouwer, M.; van de Vorst, M.; Bloemen, M.; van Beusekom, E.; Roosenboom, J.; Borstlap, W.; Admiraal, R.; Dormaar, T.; Schoenaers, J.; Vander Poorten, V.; Hens, G.; Verdonck, A.; Berge, S.; Roeleveldt, N.; Vriend, G.; Devriendt, K.; Brunner, H. G.; Mangold, E.; Hoischen, A.; van Bokhoven, H.; Carels, C. E. L.
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Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis
err2016-11-01
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errOckeloen, 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; Fuentes, Laury Roa; van de Vorst, Maartje; Henkes, Arjen; Steehouwer, Marloes; van Beusekom, Ellen; Bloemen, Marjon; Vankeirsbilck, Bruno; Berge, 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.
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More than fetal urine: enteral uptake of amniotic fluid as a major predictor for fetal growth during late gestation
err2016-03-16
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PREAI
errBagci, Soyhan; Brosens, Erwin; Tibboel, Dick; De Klein, Annelies; Ijsselstijn, Hanneke; Wijers, Charlotte H. W.; Roeleveld, Nel; de Blaauw, Ivo; Broens, Paul M.; van Rooij, Iris A. L. M.; Hoelscher, Alice; Boemers, Thomas M.; Pauly, Marcus; Muensterer, Oliver J.; Schmiedeke, Eberhard; Schaefer, Mattias; Ure, Benno E.; Lacher, Martin; Choinitzki, Vera; Schumacher, Johannes; Zwink, Nadine; Jenetzky, Ekkehart; Katzer, David; Arand, Joerg; Bartmann, Peter; Reutter, Heiko M.
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Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT
err2016-02-01
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errNicolaou, 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.
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Sequencing of the DKK1 gene in patients with anorectal malformations and hypospadias
err2014-10-17
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PREAI
errvan 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.
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