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Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome
Anne Legrand, Cyrielle Treard, Isabelle Roncelin, Sophie Dreux, Aurélia Bertholet-Thomas, Françoise Broux, Daniele Bruno, Stéphane Decramer, Georges Deschenes, Djamal Djeddi, Vincent Guigonis, Nadine Jay, Tackwa Khalifeh, Brigitte Llanas, Denis Morin, Gilles Morin, François Nobili, Christine Pietrement, Amélie Ryckewaert, Rémi Salomon, Isabelle Vrillon, Anne Blanchard and Rosa Vargas-Poussou

CJASN February 2018, 13 (2) 242-250; DOI: https://doi.org/10.2215/CJN.05670517

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Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome
Jillian K. Warejko, Weizhen Tan, Ankana Daga, David Schapiro, Jennifer A. Lawson, Shirlee Shril, Svjetlana Lovric, Shazia Ashraf, Jia Rao, Tobias Hermle, Tilman Jobst-Schwan, Eugen Widmeier, Amar J. Majmundar, Ronen Schneider, Heon Yung Gee, J. Magdalena Schmidt, Asaf Vivante, Amelie T. van der Ven, Hadas Ityel, Jing Chen, Carolin E. Sadowski, Stefan Kohl, Werner L. Pabst, Makiko Nakayama, Michael J.G. Somers, Nancy M. Rodig, Ghaleb Daouk, Michelle Baum, Deborah R. Stein, Michael A. Ferguson, Avram Z. Traum, Neveen A. Soliman, Jameela A. Kari, Sherif El Desoky, Hanan Fathy, Martin Zenker, Sevcan A. Bakkaloglu, Dominik Müller, Aytul Noyan, Fatih Ozaltin, Melissa A. Cadnapaphornchai, Seema Hashmi, Jeffrey Hopcian, Jeffrey B. Kopp, Nadine Benador, Detlef Bockenhauer, Radovan Bogdanovic, Nataša Stajić, Gil Chernin, Robert Ettenger, Henry Fehrenbach, Markus Kemper, Reyner Loza Munarriz, Ludmila Podracka, Rainer Büscher, Erkin Serdaroglu, Velibor Tasic, Shrikant Mane, Richard P. Lifton, Daniela A. Braun and Friedhelm Hildebrandt

CJASN January 2018, 13 (1) 53-62; DOI: https://doi.org/10.2215/CJN.04120417

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Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease
Rannveig Skrunes, Camilla Tøndel, Sabine Leh, Kristin Kampevold Larsen, Gunnar Houge, Einar Skulstad Davidsen, Carla Hollak, André B.P. van Kuilenburg, Frédéric M. Vaz and Einar Svarstad

CJASN September 2017, 12 (9) 1470-1479; DOI: https://doi.org/10.2215/CJN.01820217

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Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome
Naohiro Kamiyoshi, Kandai Nozu, Xue Jun Fu, Naoya Morisada, Yoshimi Nozu, Ming Juan Ye, Aya Imafuku, Kenichiro Miura, Tomohiko Yamamura, Shogo Minamikawa, Akemi Shono, Takeshi Ninchoji, Ichiro Morioka, Koichi Nakanishi, Norishige Yoshikawa, Hiroshi Kaito and Kazumoto Iijima

CJASN August 2016, 11 (8) 1441-1449; DOI: https://doi.org/10.2215/CJN.01000116

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Association Analysis of the Cubilin (CUBN) and Megalin (LRP2) Genes with ESRD in African Americans
Jun Ma, Meijian Guan, Donald W. Bowden, Maggie C.Y. Ng, Pamela J. Hicks, Janice P. Lea, Lijun Ma, Chuan Gao, Nicholette D. Palmer and Barry I. Freedman

CJASN June 2016, 11 (6) 1034-1043; DOI: https://doi.org/10.2215/CJN.12971215

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ADAMTS13 Secretion and Residual Activity among Patients with Congenital Thrombotic Thrombocytopenic Purpura with and without Renal Impairment
Erica Rurali, Federica Banterla, Roberta Donadelli, Elena Bresin, Miriam Galbusera, Sara Gastoldi, Flora Peyvandi, Mary Underwood, Giuseppe Remuzzi and Marina Noris

CJASN November 2015, 10 (11) 2002-2012; DOI: https://doi.org/10.2215/CJN.01700215

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Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome
Caterina Mele, Mathieu Lemaire, Paraskevas Iatropoulos, Rossella Piras, Elena Bresin, Serena Bettoni, David Bick, Daniel Helbling, Regan Veith, Elisabetta Valoti, Roberta Donadelli, Luisa Murer, Maria Neunhäuserer, Matteo Breno, Véronique Frémeaux-Bacchi, Richard Lifton, Giuseppe Remuzzi and Marina Noris

CJASN June 2015, 10 (6) 1011-1019; DOI: https://doi.org/10.2215/CJN.08520814

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Clinical and Molecular Characterization of Patients with Heterozygous Mutations in Wilms Tumor Suppressor Gene 1
Anja Lehnhardt, Claartje Karnatz, Thurid Ahlenstiel-Grunow, Kerstin Benz, Marcus R. Benz, Klemens Budde, Anja K. Büscher, Thomas Fehr, Markus Feldkötter, Norbert Graf, Britta Höcker, Therese Jungraithmayr, Günter Klaus, Birgit Koehler, Martin Konrad, Birgitta Kranz, Carmen R. Montoya, Dominik Müller, Thomas J. Neuhaus, Jun Oh, Lars Pape, Martin Pohl, Brigitte Royer-Pokora, Uwe Querfeld, Reinhard Schneppenheim, Hagen Staude, Giuseppina Spartà, Kirsten Timmermann, Frauke Wilkening, Simone Wygoda, Carsten Bergmann and Markus J. Kemper

CJASN May 2015, 10 (5) 825-831; DOI: https://doi.org/10.2215/CJN.10141014

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X-Linked Alport Syndrome Caused by Splicing Mutations in COL4A5
Kandai Nozu, Igor Vorechovsky, Hiroshi Kaito, Xue Jun Fu, Koichi Nakanishi, Yuya Hashimura, Fusako Hashimoto, Koichi Kamei, Shuichi Ito, Yoshitsugu Kaku, Toshiyuki Imasawa, Katsumi Ushijima, Junya Shimizu, Yoshio Makita, Takao Konomoto, Norishige Yoshikawa and Kazumoto Iijima

CJASN November 2014, 9 (11) 1958-1964; DOI: https://doi.org/10.2215/CJN.04140414

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Transcriptional Complexity in Autosomal Recessive Polycystic Kidney Disease
Valeska Frank, Klaus Zerres and Carsten Bergmann

CJASN October 2014, 9 (10) 1729-1736; DOI: https://doi.org/10.2215/CJN.00920114

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