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Displaying 9 results.
    • Journal article
    FOXP1 -related intellectual disability syndrome: a recognisable entity
    Meerschaut, Ilse Rochefort, Daniel Revencu, Nicole[UCL] Pètre, Justine Corsello, Christina Rouleau, Guy A Hamdan, Fadi F Michaud, Jacques L Morton, Jenny Radley, Jessica Ragge, Nicola García-Miñaúr, Sixto Lapunzina, Pablo Bralo, Maria Palomares Mori, Maria Ángeles Moortgat, Stéphanie Benoit, Valérie Mary, Sandrine Bockaert, Nele Oostra, Ann Vanakker, Olivier Velinov, Milen de Ravel, Thomy JL Mekahli, Djalila Sebat, Jonathan Vaux, Keith K DiDonato, Nataliya Hanson-Kahn, Andrea K Hudgins, Louanne Dallapiccola, Bruno Novelli, Antonio Tarani, Luigi Andrieux, Joris Parker, Michael J Neas, Katherine Ceulemans, Berten Schoonjans, An-Sofie Prchalova, Darina Havlovicova, Marketa Hancarova, Miroslava Budisteanu, Magdalena Dheedene, Annelies Menten, Björn Dion, Patrick A Lederer, Damien Callewaert, Bert (2017) Journal of Medical Genetics — Vol. 54, no.9, p. 613-623 (2017)
    • Journal article
    Kidney Versus Combined Kidney and Liver Transplantation in Young People With Autosomal Recessive Polycystic Kidney Disease: Data From the European Society for Pediatric Nephrology/European Renal Association-European Dialysis and Transplant (ESPN/ERA-EDTA) Registry.
    Mekahli, Djalila van Stralen, Karlijn J Bonthuis, Marjolein Jager, Kitty J Balat, Ayşe Benetti, Elisa Godefroid, Nathalie[UCL] Edvardsson, Vidar O Heaf, James G Jankauskiene, Augustina Kerecuk, Larissa Marinova, Svetlana Puteo, Flora Seeman, Tomas Zurowska, Aleksandra Pirenne, Jacques Schaefer, Franz Groothoff, Jaap W ESPN/ERA-EDTA Registry (2016) American Journal of Kidney Diseases — Vol. 68, no. 5, p. 782-788 (2016)
    • Journal article
    Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.
    Burgmaier, Kathrin Brinker, Leonie Erger, Florian Beck, Bodo B Benz, Marcus R Bergmann, Carsten Boyer, Olivia Collard, Laure Dafinger, Claudia Fila, Marc Kowalewska, Claudia Lange-Sperandio, Bärbel Massella, Laura Mastrangelo, Antonio Mekahli, Djalila Miklaszewska, Monika Ortiz-Bruechle, Nadina Patzer, Ludwig Prikhodina, Larisa Ranchin, Bruno Ranguelov, Nadejda[UCL] Schild, Raphael Seeman, Tomas Sever, Lale Sikora, Przemyslaw Szczepanska, Maria Teixeira, Ana Thumfart, Julia Uetz, Barbara Weber, Lutz Thorsten Wühl, Elke Zerres, Klaus ESCAPE Study group GPN study group Dötsch, Jörg Schaefer, Franz Liebau, Max Christoph ARegPKD consortium (2021) Kidney international — Vol. 100, no.3, p. 650-659 (2021)
    • Journal article
    Evidence for Bone and Mineral Metabolism Alterations in Children With Autosomal Dominant Polycystic Kidney Disease
    De Rechter, Stéphanie Bacchetta, Justine Godefroid, Nathalie[UCL] Dubourg, Laurence Cochat, Pierre Maquet, Julie Raes, Ann De Schepper, Jean Vermeersch, Pieter Van Dyck, Maria Levtchenko, Elena D’Haese, Patrick Evenepoel, Pieter Mekahli, Djalila (2017) The Journal of Clinical Endocrinology & Metabolism — Vol. 102, no.11, p. 4210-4217 (2017)
    • Journal article
    Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease.
    Burgmaier, Kathrin Kunzmann, Kevin Ariceta, Gema Bergmann, Carsten Buescher, Anja Katrin Burgmaier, Mathias Dursun, Ismail Duzova, Ali Eid, Loai Erger, Florian Feldkoetter, Markus Galiano, Matthias Geßner, Michaela Goebel, Heike Gokce, Ibrahim Haffner, Dieter Hooman, Nakysa Hoppe, Bernd Jankauskiene, Augustina Klaus, Guenter König, Jens Litwin, Mieczyslaw Massella, Laura Mekahli, Djalila Melek, Engin Mir, Sevgi Pape, Lars Prikhodina, Larisa Ranchin, Bruno Schild, Raphael Seeman, Tomas Sever, Lale Shroff, Rukshana Soliman, Neveen A Stabouli, Stella Stanczyk, Malgorzata Tabel, Yilmaz Taranta-Janusz, Katarzyna Testa, Sara Thumfart, Julia Topaloglu, Rezan Weber, Lutz Thorsten Wicher, Dorota Wühl, Elke Wygoda, Simone Yilmaz, Alev Zachwieja, Katarzyna Zagozdzon, Ilona Zerres, Klaus ESCAPE Study Group GPN Study Group Dötsch, Jörg Schaefer, Franz Liebau, Max Christoph ARegPKD consortium Ranguelov, Nadejda[UCL] Godefroid, Nathalie[UCL] (2018) The Journal of pediatrics — Vol. 199, p. 22-28.e6 (2018)
    • Journal article
    ADPedKD: A Global Online Platform on the Management of Children With ADPKD.
    De Rechter, Stéphanie Bockenhauer, Detlef Guay-Woodford, Lisa M Liu, Isaac Mallett, Andrew J Soliman, Neveen A Sylvestre, Lucimary C Schaefer, Franz Liebau, Max C Mekahli, Djalila ADPedKD Consortium Godefroid, Nathalie[UCL] Ranguelov, Nadejda[UCL] (2019) Kidney international reports — Vol. 4, no.9, p. 1271-1284 (2019)
    • Journal article
    Prevalence of Hypertension in Children with Early-Stage ADPKD
    Massella, Laura Mekahli, Djalila Paripović, Dušan Prikhodina, Larisa Godefroid, Nathalie[UCL] Niemirska, Anna Ağbaş, Ayşe Kalicka, Karolina Jankauskiene, Augustina Mizerska-Wasiak, Malgorzata Afonso, Alberto Caldas Salomon, Rémi Deschênes, Georges Ariceta, Gema Özçakar, Z. Birsin Teixeira, Ana Duzova, Ali Harambat, Jérôme Seeman, Tomáš Hrčková, Gabriela Lungu, Adrian Catalin Papizh, Svetlana Peco-Antic, Amira De Rechter, Stéphanie Giordano, Ugo Kirchner, Marietta Lutz, Teresa Schaefer, Franz Devuyst, Olivier[UCL] Wühl, Elke Emma, Francesco (2018) Clinical Journal of the American Society of Nephrology — Vol. 13, no. 6, p. 874-883 (2018)
    • Journal article
    Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD).
    Burgmaier, Kathrin Ariceta, Gema Bald, Martin Buescher, Anja Katrin Burgmaier, Mathias Erger, Florian Gessner, Michaela Gokce, Ibrahim König, Jens Kowalewska, Claudia Massella, Laura Mastrangelo, Antonio Mekahli, Djalila Pape, Lars Patzer, Ludwig Potemkina, Alexandra Schalk, Gesa Schild, Raphael Shroff, Rukshana Szczepanska, Maria Taranta-Janusz, Katarzyna Tkaczyk, Marcin Weber, Lutz Thorsten Wühl, Elke Wurm, Donald Wygoda, Simone Zagozdzon, Ilona Dötsch, Jörg Oh, Jun Schaefer, Franz Liebau, Max Christoph ARegPKD consortium Ranguelov, Nadejda[UCL] (2020) Scientific reports — Vol. 10, no.1, p. 16025 [1-12] (2020)
    • Journal article
    Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD
    Nalcacioglu, Hulya Dunand, Oliver Mastrangelo, Antonio Murer, Luisa Emma, Francesco Ruzgiene, Dovile Taranta-Janusz, Katarzyna Balasz-Chmielewska, Irena Miklaszewska, Monika Stanczyk, Malgorzata Sikora, Przemyslaw Kowalewska, Claudia Szczepanska, Maria Teixeira, Ana Rachisan, Andreea Papachristou, Fotios Paripović, Dušan Prikhodina, Larisa Jilani, Houweyda Bayazit, Aysun Karabay Soylu, Alper Candan, Cengiz Sever, Lale Emre, Sevinc Cicek, Neslihan Akinci, Nurver Mir, Sevgi Poyrazoğlu, Hakan M. Tabel, Yilmaz Mencarelli, Francesca Burgmaier, Kathrin Kilian, Samuel Arbeiter, Klaus Atmis, Bahriye Büscher, Anja Derichs, Ute Dursun, Ismail Duzova, Ali Eid, Loai Akram Galiano, Matthias Gessner, Michaela Gokce, Ibrahim Haeffner, Karsten Hooman, Nakysa Jankauskiene, Augustina Körber, Friederike Longo, Germana Massella, Laura Mekahli, Djalila Miloševski-Lomić, Gordana Nalcacioglu, Hulya Rus, Rina Shroff, Rukshana Stabouli, Stella Weber, Lutz T. Wygoda, Simone Yilmaz, Alev Zachwieja, Katarzyna Zagozdzon, Ilona Dötsch, Jörg Schaefer, Franz Liebau, Max Christoph Burgmaier, Kathrin Kilian, Samuel Arbeiter, Klaus Atmis, Bahriye Büscher, Anja Derichs, Ute Dursun, Ismail Duzova, Ali Eid, Loai Akram Galiano, Matthias Gessner, Michaela Gokce, Ibrahim Haeffner, Karsten Hooman, Nakysa Jankauskiene, Augustina Longo, Germana Massella, Laura Mekahli, Djalila Miloševski-Lomić, Gordana Nalcacioglu, Hulya Rus, Rina Shroff, Rukshana Stabouli, Stella Weber, Lutz T. Wygoda, Simone Yilmaz, Alev Zachwieja, Katarzyna Zagozdzon, Ilona Dötsch, Jörg Schaefer, Franz Liebau, Max Christoph Potemkina, Alexandra Ranguelov, Nadejda[UCL] Collard, Laure De Mul, Aurélie Feldkoetter, Markus Seeman, Tomas Zieg, Jakub Thumfart, Julia Grundmann, Franziska Buchholz, Björn Pape, Lars Gross, Oliver Patzer, Ludwig Schild, Raphael Haffner, Dieter Bernhardt, Wanja Wuehl, Elke Henn, Michael Halbritter, Jan Klaus, Günter Lechner, Felix Lange-Sperandio, Bärbel Uetz, Barbara Benz, Marcus König, Jens Staude, Hagen Wurm, Donald Bald, Martin Soliman, Neveen A. Ariceta, Gema Rodriguez, Juan David Gonzalez de la Cerda Ojeda, Francisco Harambat, Jerome Ranchin, Bruno Fila, Marc Dossier, Claire Boyer, Olivia Marlais, Matko (2021) Scientific Reports — Vol. 11, no.1, p. 1-10 (2021)