Zobrazeno 1 - 10
of 83
pro vyhledávání: '"Iris A.L.M. van Rooij"'
Autor:
Isabel C. Hageman, Misel Trajanovska, Iris A.L.M. van Rooij, Ivo de Blaauw, Sebastian K. King
Publikováno v:
Journal of Pediatric Surgery Open, Vol 6, Iss , Pp 100121- (2024)
Colorectal paediatric surgeons, rare and complex colorectal patients, and data on this patient group are dispersed far and wide in Australia and New Zealand (ANZ). Online databases facilitate sharing and collating of data, and may help to connect phy
Externí odkaz:
https://doaj.org/article/47342bf7b0f746e99c22811b0b2af511
Autor:
Isabel C. Hageman, Iris A.L.M. van Rooij, Ivo de Blaauw, Misel Trajanovska, Sebastian K. King
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract Patient registries serve to overcome the research limitations inherent in the study of rare diseases, where patient numbers are typically small. Despite the value of real-world data collected through registries, adequate design and maintenan
Externí odkaz:
https://doaj.org/article/f94304cb55db4477af73a277955f4e89
Autor:
Loes F.M. van der Zanden, Iris A.L.M. van Rooij, Josine S.L.T. Quaedackers, Rien J.M. Nijman, Martijn Steffens, Liesbeth L.L. de Wall, Ernie M.H.F. Bongers, Franz Schaefer, Marietta Kirchner, Rouven Behnisch, Aysun K. Bayazit, Salim Caliskan, Lukasz Obrycki, Giovanni Montini, Ali Duzova, Matthias Wuttke, Rachel Jennings, Neil A. Hanley, Natalie J. Milmoe, Paul J.D. Winyard, Kirsten Y. Renkema, Michiel F. Schreuder, Nel Roeleveld, Wout F.J. Feitz
Publikováno v:
European Urology Open Science, Vol 28, Iss , Pp 26-35 (2021)
Background: Posterior urethral valves (PUVs) and ureteropelvic junction obstruction (UPJO) are congenital obstructive uropathies that may impair kidney development. Objective: To identify genetic variants associated with kidney injury in patients wit
Externí odkaz:
https://doaj.org/article/4d5056c7d0d34280ac6b7f50cbf9e9f2
Autor:
Marjon van Slegtenhorst, Paul Lasko, Jill R. Murrell, Romy van de Putte, Courtney Manning, Mary-Alice Abbott, Constance T. R. M. Stumpel, Jacqueline Leonard, Iris A.L.M. van Rooij, Servi J. C. Stevens, Han G. Brunner, Alexander Hoischen, Karin E. M. Diderich, Louise C. Pyle, Jorune Balciuniene
Publikováno v:
Clinical Genetics, 101, 183-189
Clinical Genetics, 101, 2, pp. 183-189
Clinical Genetics, 101(2), 183-189. Wiley
Clinical Genetics, 101(2), 183-189. Wiley-Blackwell Publishing Ltd
Clinical Genetics, 101, 2, pp. 183-189
Clinical Genetics, 101(2), 183-189. Wiley
Clinical Genetics, 101(2), 183-189. Wiley-Blackwell Publishing Ltd
Contains fulltext : 248942.pdf (Publisher’s version ) (Open Access) The caudal type homeobox 2 (CDX2) gene encodes a developmental regulator involved in caudal body patterning. Only three pathogenic variants in human CDX2 have been described, in pa
Autor:
Isabel C. Hageman, Hendrik J.J. van der Steeg, Ekkehart Jenetzky, Misel Trajanovska, Sebastian K. King, Ivo de Blaauw, Iris A.L.M. van Rooij, Dalia Aminoff, Eva Amerstorfer, Holger Till, Piero Bagolan, Barbara Iacobelli, Hakan Çavuşoğlu, Onur Ozen, Stefan Deluggi, Johanna Ludwiczek, Emre Divarci, María Fanjul, Francesco Fascetti-Leon, Araceli García Vázquez, Carlos Giné, Ramon Gorter, Justin de Jong, Jan Goseman, Martin Lacher, Caterina Grano, Sabine Grasshoff-Derr, Michel Haanen, Ernesto Leva, Anna Morandi, Gabriele Lisi, Igor Makedonsky, Carlo Marcelis, Paola Midrio, Marc Miserez, Mazeena Mohideen, Alessio PiniPrato, Carlos Reck-Burneo, Heiko Reutter, Stephan Rohleder, Inbal Samuk, Eberhard Schmiedeke, Nicole Schwarzer, Pim Sloots, Pernilla Stenström, Chris Verhaak, Alejandra Vilanova-Sánchez, Patrick Volk, Marieke Witvliet
Publikováno v:
Journal of pediatric surgery. W.B. Saunders Ltd
Background: Registries are important in rare disease research. The Anorectal Malformation Network (ARM-Net) registry is a well-established European patient registry collecting demographic, clinical, and functional outcome data. We assessed the qualit
Publikováno v:
European Journal of Pediatric Surgery, 31, 6, pp. 482-491
European Journal of Pediatric Surgery, 31, 482-491
European Journal of Pediatric Surgery, 31, 482-491
Anorectal malformation (ARM) is a relatively frequently occurring congenital anomaly of hindgut development with a prevalence of 1 in 3,000 live births. ARM may present as an isolated anomaly, but it can also be associated with other anomalies, somet
Autor:
Ingeborg Barisic, Michel Guo, Florence Rouget, Awi Wiesel, Mary O'Mahony, Kari Klungsøyr, Martin Haeusler, Karen Luyt, Maria Loane, Nel Roeleveld, Babak Khoshnood, Diana Wellesley, Bruno Schaub, Han G. Brunner, Jenny J. Kurinczuk, Carmel Mullaney, Clara Cavero-Carbonell, Judith Rankin, Jorieke E. H. Bergman, Monica Lanzoni, Iris A.L.M. van Rooij, Hanitra Randrianaivo, Carlos Matias Dias, Isabelle Perthus, Anna Latos-Bielenska, Natalya Zymak-Zakutnia, Romy van de Putte, Larraitz Etxebarriarteun, Marie-Claude Addor, Elizabeth S Draper, Carlo Marcelis, Hermien E. K. de Walle, Anna Pierini, Amanda J. Neville, Anke Rissmann, Vera Nelen, David Tucker, Nicola Miller, Miriam Gatt
Publikováno v:
PEDIATRIC RESEARCH
r-FISABIO. Repositorio Institucional de Producción Científica
instname
Pediatric Research
van de Putte, R, van Rooij, I A L M, Marcelis, C L M, Guo, M, Brunner, H G, Addor, M-C, Cavero-Carbonell, C, Dias, C M, Draper, E S, Etxebarriarteun, L, Gatt, M, Haeusler, M, Khoshnood, B, Klungsoyr, K, Kurinczuk, J J, Lanzoni, M, Latos-Bielenska, A, Luyt, K, O'Mahony, M T, Miller, N, Mullaney, C, Nelen, V, Neville, A J, Perthus, I, Pierini, A, Randrianaivo, H, Rankin, J, Rissmann, A, Rouget, F, Schaub, B, Tucker, D, Wellesley, D, Wiesel, A, Zymak-Zakutnia, N, Loane, M, Barisic, I, de Walle, H E K, Roeleveld, N & Bergman, J E H 2019, ' Spectrum of congenital anomalies among VACTERL cases : a EUROCAT population-based study ', Pediatric Research . https://doi.org/10.1038/s41390-019-0561-y
Pediatric Research, 87(3), 541-549. Nature Publishing Group
Pediatric Research, 2020, 87 (3), pp.541-549. ⟨10.1038/s41390-019-0561-y⟩
Pediatric Research, Nature Publishing Group, 2020, 87 (3), pp.541-549. ⟨10.1038/s41390-019-0561-y⟩
Pediatric Research, 87, 3, pp. 541-549
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
Pediatric Research, 87, 541-549
r-FISABIO. Repositorio Institucional de Producción Científica
instname
Pediatric Research
van de Putte, R, van Rooij, I A L M, Marcelis, C L M, Guo, M, Brunner, H G, Addor, M-C, Cavero-Carbonell, C, Dias, C M, Draper, E S, Etxebarriarteun, L, Gatt, M, Haeusler, M, Khoshnood, B, Klungsoyr, K, Kurinczuk, J J, Lanzoni, M, Latos-Bielenska, A, Luyt, K, O'Mahony, M T, Miller, N, Mullaney, C, Nelen, V, Neville, A J, Perthus, I, Pierini, A, Randrianaivo, H, Rankin, J, Rissmann, A, Rouget, F, Schaub, B, Tucker, D, Wellesley, D, Wiesel, A, Zymak-Zakutnia, N, Loane, M, Barisic, I, de Walle, H E K, Roeleveld, N & Bergman, J E H 2019, ' Spectrum of congenital anomalies among VACTERL cases : a EUROCAT population-based study ', Pediatric Research . https://doi.org/10.1038/s41390-019-0561-y
Pediatric Research, 87(3), 541-549. Nature Publishing Group
Pediatric Research, 2020, 87 (3), pp.541-549. ⟨10.1038/s41390-019-0561-y⟩
Pediatric Research, Nature Publishing Group, 2020, 87 (3), pp.541-549. ⟨10.1038/s41390-019-0561-y⟩
Pediatric Research, 87, 3, pp. 541-549
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
Pediatric Research, 87, 541-549
Background The VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association is the non-random occurrence of at least three of these congenital anomalies: vertebral, an
Publikováno v:
World Journal of Surgery, 44, 6, pp. 2042-2048
World Journal of Surgery, 44, 2042-2048
World Journal of Surgery, 44, 2042-2048
Introduction Several medical and surgical improvements in the treatment of congenital diaphragmatic hernia (CDH) patients have led to a higher survival rate. However, some of these improvements also lead to an increased morbidity rate. This study aim
Autor:
Salim Caliskan, Loes F.M. van der Zanden, Liesbeth L.L. de Wall, Rachel E. Jennings, Josine Quaedackers, Matthias Wuttke, Nel Roeleveld, Aysun Karabay Bayazit, Kirsten Y. Renkema, Paul J.D. Winyard, Michiel F. Schreuder, Martijn G Steffens, Lukasz Obrycki, Iris A.L.M. van Rooij, Rouven Behnisch, Ali Duzova, Rien J.M. Nijman, Giovanni Montini, Franz Schaefer, Ernie M.H.F. Bongers, Neil A. Hanley, Marietta Kirchner, Wout F.J. Feitz, Natalie J Milmoe
Publikováno v:
European urology open science, 28, 26-35. Elsevier
European Urology Open Science
European Urology Open Science, Vol 28, Iss, Pp 26-35 (2021)
European Urology Open Science, 28, 26-35
European Urology Open Science, 28, pp. 26-35
European Urology Open Science
European Urology Open Science, Vol 28, Iss, Pp 26-35 (2021)
European Urology Open Science, 28, 26-35
European Urology Open Science, 28, pp. 26-35
Background Posterior urethral valves (PUVs) and ureteropelvic junction obstruction (UPJO) are congenital obstructive uropathies that may impair kidney development. Objective To identify genetic variants associated with kidney injury in patients with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7727dd3965633d6b5e58eb40dffcf4f
https://research.rug.nl/en/publications/3f7f9ea6-c758-406d-ac7b-d2c734cc13e1
https://research.rug.nl/en/publications/3f7f9ea6-c758-406d-ac7b-d2c734cc13e1
Autor:
Kaare Christensen, Marie José H. Van Den Boogaard, Volker Dötsch, Ozan Topaloglu, Alexander Hoischen, Kriti D. Khandelwal, Jakob Gebel, Ellen van Beusekom, Nel Roeleveld, Elisabeth Mangold, Sarah L. Mehrem, Christian Gilissen, Joseph Schoenaers, Koen Devriendt, Greet Hens, Stefaan J. Bergé, Iris A.L.M. van Rooij, Jeffrey C. Murray, Hans van Bokhoven, Marloes Steehouwer, Carine Carels, Kerstin U. Ludwig, Ellen van Binsbergen, Nina Ishorst, Christina Fagerberg, Huiqing Zhou
Publikováno v:
Eur J Hum Genet
European Journal of Human Genetics, 27, 7, pp. 1101-1112
European Journal of Human Genetics, 27(7), 1101. Nature Publishing Group
European Journal of Human Genetics, 27, 1101-1112
Khandelwal, K D, van den Boogaard, M-J H, Mehrem, S L, Gebel, J, Fagerberg, C, van Beusekom, E, van Binsbergen, E, Topaloglu, O, Steehouwer, M, Gilissen, C, Ishorst, N, van Rooij, I A L M, Roeleveld, N, Christensen, K, Schoenaers, J, Bergé, S, Murray, J C, Hens, G, Devriendt, K, Ludwig, K U, Mangold, E, Hoischen, A, Zhou, H, Dötsch, V, Carels, C E L & van Bokhoven, H 2019, ' Deletions and loss-of-function variants in TP63 associated with orofacial clefting ', European Journal of Human Genetics, vol. 27, no. 7, pp. 1101-1112 . https://doi.org/10.1038/s41431-019-0370-0
European Journal of Human Genetics, 27, 7, pp. 1101-1112
European Journal of Human Genetics, 27(7), 1101. Nature Publishing Group
European Journal of Human Genetics, 27, 1101-1112
Khandelwal, K D, van den Boogaard, M-J H, Mehrem, S L, Gebel, J, Fagerberg, C, van Beusekom, E, van Binsbergen, E, Topaloglu, O, Steehouwer, M, Gilissen, C, Ishorst, N, van Rooij, I A L M, Roeleveld, N, Christensen, K, Schoenaers, J, Bergé, S, Murray, J C, Hens, G, Devriendt, K, Ludwig, K U, Mangold, E, Hoischen, A, Zhou, H, Dötsch, V, Carels, C E L & van Bokhoven, H 2019, ' Deletions and loss-of-function variants in TP63 associated with orofacial clefting ', European Journal of Human Genetics, vol. 27, no. 7, pp. 1101-1112 . https://doi.org/10.1038/s41431-019-0370-0
Contains fulltext : 204872.pdf (Publisher’s version ) (Open Access) We aimed to identify novel deletions and variants of TP63 associated with orofacial clefting (OFC). Copy number variants were assessed in three OFC families using microarray analys