Search Results - Filipa M Lopes

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  1. 1

    Congenital Disorders of the Human Urinary Tract: Recent Insights From Genetic and Molecular Studies by Adrian S. Woolf, Adrian S. Woolf, Filipa M. Lopes, Parisa Ranjzad, Neil A. Roberts

    Published in Frontiers in Pediatrics (2019-04-01)
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  2. 2

    Predicting congenital renal tract malformation genes using machine learning by Mitra Kabir, Helen M. Stuart, Filipa M. Lopes, Elisavet Fotiou, Bernard Keavney, Andrew J. Doig, Adrian S. Woolf, Kathryn E. Hentges

    Published in Scientific Reports (2023-08-01)
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  3. 3

    Human HPSE2 gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome by Filipa M Lopes, Celine Grenier, Benjamin W Jarvis, Sara Al Mahdy, Adrian Lène-McKay, Alison M Gurney, William G Newman, Simon N Waddington, Adrian S Woolf, Neil A Roberts

    Published in eLife (2024-07-01)
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  4. 4

    Case Report: Prolonged survival in Schinzel–Giedion syndrome featuring megaureter and de novo SETBP1 mutation by Glenda M. Beaman, Glenda M. Beaman, Benjamin W. Jarvis, Anju Goyal, David J. B. Keene, Max Cervellione, Filipa M. Lopes, Kay A. Metcalfe, Adrian S. Woolf, William G. Newman, William G. Newman

    Published in Frontiers in Pediatrics (2025-03-01)
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  5. 5

    Haploinsufficiency of ABL1 is associated with dominant isolated omphalocele by Caroline M. Kolvenbach, Caroline M. Kolvenbach, Caroline M. Kolvenbach, Öznur Yilmaz, Filipa M. Lopes, Jeshurun C. Kalanithy, Jeshurun C. Kalanithy, Katharina Lemberg, Katharina Lemberg, Vineeta Sharma, Amar J. Majmundar, Matthias Geyer, Adrian S. Woolf, Friedhelm Hildebrandt, Benjamin Odermatt, Benjamin Odermatt, Heiko Reutter

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  6. 6

    Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder by Glenda M. Beaman, Glenda M. Beaman, Filipa M. Lopes, Aybike Hofmann, Wolfgang Roesch, Martin Promm, Emilia K. Bijlsma, Chirag Patel, Aykut Akinci, Berk Burgu, Jeroen Knijnenburg, Gladys Ho, Gladys Ho, Christina Aufschlaeger, Sylvia Dathe, Sylvia Dathe, Marie Antoinette Voelckel, Monika Cohen, Wyatt W. Yue, Helen M. Stuart, Helen M. Stuart, Edward A. Mckenzie, Mark Elvin, Neil A. Roberts, Adrian S. Woolf, Adrian S. Woolf, William G. Newman, William G. Newman

    Published in Frontiers in Genetics (2022-06-01)
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  7. 7

    Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies by Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger

    Published in npj Genomic Medicine (2024-03-01)
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  8. 8

    SLC20A1 Is Involved in Urinary Tract and Urorectal Development by Johanna Magdalena Rieke, Johanna Magdalena Rieke, Johanna Magdalena Rieke, Rong Zhang, Doreen Braun, Öznur Yilmaz, Anna S. Japp, Anna S. Japp, Filipa M. Lopes, Michael Pleschka, Michael Pleschka, Alina C. Hilger, Alina C. Hilger, Sophia Schneider, Sophia Schneider, William G. Newman, Glenda M. Beaman, Agneta Nordenskjöld, 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, 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, Catherine E. Keegan, Amit Sharma, Amit Sharma, Tikam Chand Dakal, Lars Wittler, Phillip Grote, Nadine Zwink, Ekkehart Jenetzky, Ekkehart Jenetzky, Alfredo Brusco, Alfredo Brusco, Holger Thiele, Michael Ludwig, Ulrich Schweizer, Adrian S. Woolf, Adrian S. Woolf, Benjamin Odermatt, Benjamin Odermatt, Heiko Reutter, Heiko Reutter

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