Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Iris A L M van Rooij"'
Autor:
Romy van de Putte, Charlotte H W Wijers, Heiko Reutter, Sita H Vermeulen, Carlo L M Marcelis, Erwin Brosens, Paul M A Broens, Markus Homberg, Michael Ludwig, Ekkehart Jenetzky, Nadine Zwink, Cornelius E J Sloots, Annelies de Klein, Alice S Brooks, Robert M W Hofstra, Sophie A C Holsink, Loes F M van der Zanden, Tessel E Galesloot, Paul Kwong-Hang Tam, Marloes Steehouwer, Rocio Acuna-Hidalgo, Maartje van de Vorst, Lambertus A Kiemeney, Maria-Mercè Garcia-Barceló, Ivo de Blaauw, Han G Brunner, Nel Roeleveld, Iris A L M van Rooij
Publikováno v:
PLoS ONE, Vol 14, Iss 5, p e0217477 (2019)
IntroductionAnorectal malformations (ARM) are rare congenital malformations, resulting from disturbed hindgut development. A genetic etiology has been suggested, but evidence for the involvement of specific genes is scarce. We evaluated the contribut
Externí odkaz:
https://doaj.org/article/641fb7e6ff264466bd436fd610bb6de0
Autor:
Loes F. M. van der Zanden, Sander Groen in ‘t Woud, Iris A. L. M. van Rooij, Josine S. L. T. Quaedackers, Martijn Steffens, Liesbeth L. L. de Wall, Michiel F. Schreuder, Wout F. J. Feitz, Nel Roeleveld
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
IntroductionPosterior urethral valves (PUV) is a congenital disorder causing an obstruction of the lower urinary tract that affects approximately 1 in 4,000 male live births. PUV is considered a multifactorial disorder, meaning that both genetic and
Externí odkaz:
https://doaj.org/article/099098900c374a428eeb89326e64b130
Autor:
Rosanne M. Smits, Eline Vissers, Rosan te Pas, Noor Roebbers, Wout F. J. Feitz, Iris A. L. M. van Rooij, Ivo de Blaauw, Chris M. Verhaak
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
Abstract Background Challenges faced by children diagnosed with a rare disease or complex condition and their family members are often characterized by disease-specific complexities, such as a prolonged diagnostic process, an uncertain prognosis, and
Externí odkaz:
https://doaj.org/article/512d7ea448b54288b11842ca48214193
Autor:
Sander Groen in ’t Woud, Carlo Maj, Kirsten Y. Renkema, Rik Westland, Tessel Galesloot, Iris A. L. M. van Rooij, Sita H. Vermeulen, Wout F. J. Feitz, Nel Roeleveld, Michiel F. Schreuder, Loes F. M. van der Zanden
Publikováno v:
Biomedicines, Vol 10, Iss 12, p 3023 (2022)
Congenital solitary functioning kidney (CSFK) is a birth defect that occurs in 1:1500 children and predisposes them to kidney injury. Its aetiology is likely multifactorial. In addition to known monogenic causes and environmental risk factors, common
Externí odkaz:
https://doaj.org/article/b18eec08e3ed4ef79b768bae226b748a
Autor:
Paola Midrio, Iris A. L. M. van Rooij, Giulia Brisighelli, Aracelli Garcia, Maria Fanjul, Paul Broens, Barbara D. Iacobelli, Carlos Giné, Gabriele Lisi, Cornelius E. J. Sloots, Francesco Fascetti Leon, Anna Morandi, Herjan van der Steeg, Stefan Giuliani, Sabine Grasshoff-Derr, Martin Lacher, Ivo de Blaauw, Ekkehart Jenetzky
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Aim: Male patients with anorectal malformations (ARM) are classified according to presence and level of the recto-urinary fistula. This is traditionally established by a preoperative high-pressure distal colostogram that may be variably interpreted b
Externí odkaz:
https://doaj.org/article/3d85f2a9fb5441599c74234dedf12c60
Autor:
Johanna Magdalena Rieke, Rong Zhang, Doreen Braun, Öznur Yilmaz, Anna S. Japp, Filipa M. Lopes, Michael Pleschka, Alina C. Hilger, Sophia Schneider, William G. Newman, Glenda M. Beaman, Agneta Nordenskjöld, Anne-Karoline Ebert, Martin Promm, Wolfgang H. Rösch, Raimund Stein, Karin Hirsch, Frank-Mattias Schäfer, Eberhard Schmiedeke, Thomas M. Boemers, Martin Lacher, Dietrich Kluth, Jan-Hendrik Gosemann, Magnus Anderberg, Gillian Barker, Gundela Holmdahl, Göran Läckgren, David Keene, Raimondo M. Cervellione, Elisa Giorgio, Massimo Di Grazia, Wouter F. J. Feitz, Carlo L. M. Marcelis, Iris A. L. M. Van Rooij, Arend Bökenkamp, Goedele M. A. Beckers, Catherine E. Keegan, Amit Sharma, Tikam Chand Dakal, Lars Wittler, Phillip Grote, Nadine Zwink, Ekkehart Jenetzky, Alfredo Brusco, Holger Thiele, Michael Ludwig, Ulrich Schweizer, Adrian S. Woolf, Benjamin Odermatt, Heiko Reutter
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 8 (2020)
Previous studies in developing Xenopus and zebrafish reported that the phosphate transporter slc20a1a is expressed in pronephric kidneys. The recent identification of SLC20A1 as a monoallelic candidate gene for cloacal exstrophy further suggests its
Externí odkaz:
https://doaj.org/article/9c651c06182b43e58e089d5b84ebbebc
Autor:
Romy van de Putte, Gabriel C. Dworschak, Erwin Brosens, Heiko M. Reutter, Carlo L. M. Marcelis, Rocio Acuna-Hidalgo, Nehir E. Kurtas, Marloes Steehouwer, Sally L. Dunwoodie, Eberhard Schmiedeke, Stefanie Märzheuser, Nicole Schwarzer, Alice S. Brooks, Annelies de Klein, Cornelius E. J. Sloots, Dick Tibboel, Giulia Brisighelli, Anna Morandi, Maria F. Bedeschi, Michael D. Bates, Marc A. Levitt, Alberto Peña, Ivo de Blaauw, Nel Roeleveld, Han G. Brunner, Iris A. L. M. van Rooij, Alexander Hoischen
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Background: The VATER/VACTERL association (VACTERL) is defined as the non-random occurrence of the following congenital anomalies: Vertebral, Anal, Cardiac, Tracheal-Esophageal, Renal, and Limb anomalies. As no unequivocal candidate gene has been ide
Externí odkaz:
https://doaj.org/article/8878786ed8f743aab8a58e7142819dab
Autor:
Loes F. M. van der Zanden, Carlo Maj, Oleg Borisov, Iris A. L. M. van Rooij, Josine S. L. T. Quaedackers, Martijn Steffens, Luca Schierbaum, Sophia Schneider, Lea Waffenschmidt, Lambertus A. L. M. Kiemeney, Liesbeth L. L. de Wall, Stefanie Heilmann, Aybike Hofmann, Jan Gehlen, Johannes Schumacher, Maria Szczepanska, Katarzyna Taranta-Janusz, Pawel Kroll, Grazyna Krzemien, Agnieszka Szmigielska, Michiel F. Schreuder, Stefanie Weber, Marcin Zaniew, Nel Roeleveld, Heiko Reutter, Wout F. J. Feitz, Alina C. Hilger
Publikováno v:
Frontiers in Pediatrics, 10
Frontiers in Pediatrics, 10:988374. Frontiers Media S.A.
Frontiers in Pediatrics, 10:988374. Frontiers Media S.A.
Congenital lower urinary tract obstructions (LUTO) are most often caused by posterior urethral valves (PUV), a male limited anatomical obstruction of the urethra affecting 1 in 4,000 male live births. Little is known about the genetic background of P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e485500b8ce4254057d09cd8844d51b
Autor:
Enrico Mingardo, Glenda Beaman, Philip Grote, Agneta Nordenskjöld, William Newman, Adrian S. Woolf, Markus Eckstein, Alina C. Hilger, Gabriel C. Dworschak, Wolfgang Rösch, Anne-Karolin Ebert, Raimund Stein, Alfredo Brusco, Massimo Di Grazia, Ali Tamer, Federico M. Torres, Jose L. Hernandez, Philipp Erben, Carlo Maj, Jose M. Olmos, Jose A. Riancho, Carmen Valero, Isabel C. Hostettler, Henry Houlden, David J. Werring, Johannes Schumacher, Jan Gehlen, Ann-Sophie Giel, Benedikt C. Buerfent, Samara Arkani, Elisabeth Åkesson, Emilia Rotstein, Michael Ludwig, Gundela Holmdahl, Elisa Giorgio, Alfredo Berettini, David Keene, Raimondo M. Cervellione, Nina Younsi, Melissa Ortlieb, Josef Oswald, Bernhard Haid, Martin Promm, Claudia Neissner, Karin Hirsch, Maximilian Stehr, Frank-Mattias Schäfer, Eberhard Schmiedeke, Thomas M. Boemers, Iris A. L. M. van Rooij, Wouter F. J. Feitz, Carlo L. M. Marcelis, Martin Lacher, Jana Nelson, Benno Ure, Caroline Fortmann, Daniel P. Gale, Melanie M. Y. Chan, Kerstin U. Ludwig, Markus M. Nöthen, Stefanie Heilmann, Nadine Zwink, Ekkehart Jenetzky, Benjamin Odermatt, Michael Knapp, Heiko Reutter
Publikováno v:
Communications Biology, 5
Communications Biology, 5, 1
Communications biology, 2022, 5(1), 1203
Communications Biology, 5, 1
Communications biology, 2022, 5(1), 1203
Classic bladder exstrophy represents the most severe end of all human congenital anomalies of the kidney and urinary tract and is associated with bladder cancer susceptibility. Previous genetic studies identified one locus to be involved in classic b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f189aeb4a2ab486f696938dd69b6856
https://hdl.handle.net/2318/1882361
https://hdl.handle.net/2318/1882361
Autor:
Eva E, Amerstorfer, Eberhard, Schmiedeke, Inbal, Samuk, Cornelius E J, Sloots, Iris A L M, van Rooij, Ekkehart, Jenetzky, Paola, Midrio, Arm-Net Consortium
Publikováno v:
Children, 9(6):831. Multidisciplinary Digital Publishing Institute (MDPI)
Children, 9
Children, 9, 6
Children; Volume 9; Issue 6; Pages: 831
Children, 9
Children, 9, 6
Children; Volume 9; Issue 6; Pages: 831
In the past, an anteriorly located anus was often misdiagnosed and treated as an anorectal malformation (ARM) with a perineal fistula (PF). The paper aims to define the criteria for a normal anus, an anterior anus (AA) as an anatomic variant, and mil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::036fbe59b859482746a74b821537aaeb
https://doi.org/10.3390/children9060831
https://doi.org/10.3390/children9060831