An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease

Por Eisenberger, Tobias, Decker, Christian, Hiersche, Milan, Hamann, Ruben C., Decker, Eva, Neuber, Steffen, Frank, Valeska, Bolz, Hanno J., Fehrenbach, Henry, Pape, Lars, Toenshoff, Burkhard, Mache, Christoph, Latta, Kay, Bergmann, Carsten
Publicado no PLoS One (2015)

Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease

Por Bergmann, Carsten, von Bothmer, Jennifer, Ortiz Brüchle, Nadina, Venghaus, Andreas, Frank, Valeska, Fehrenbach, Henry, Hampel, Tobias, Pape, Lars, Buske, Annegret, Jonsson, Jon, Sarioglu, Nanette, Santos, Antónia, Ferreira, Jose Carlos, Becker, Jan U., Cremer, Reinhold, Hoefele, Julia, Benz, Marcus R., Weber, Lutz T., Buettner, Reinhard, Zerres, Klaus
Publicado em 2011

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

Por Beck, Bodo B, Baasner, Anne, Buescher, Anja, Habbig, Sandra, Reintjes, Nadine, Kemper, Markus J, Sikora, Przemyslaw, Mache, Christoph, Pohl, Martin, Stahl, Mirjam, Toenshoff, Burkhard, Pape, Lars, Fehrenbach, Henry, Jacob, Dorrit E, Grohe, Bernd, Wolf, Matthias T, Nürnberg, Gudrun, Yigit, Gökhan, Salido, Eduardo C, Hoppe, Bernd
Publicado em 2013

KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

Por Gee, Heon Yung, Zhang, Fujian, Ashraf, Shazia, Kohl, Stefan, Sadowski, Carolin E., Vega-Warner, Virginia, Zhou, Weibin, Lovric, Svjetlana, Fang, Humphrey, Nettleton, Margaret, Zhu, Jun-yi, Hoefele, Julia, Weber, Lutz T., Podracka, Ludmila, Boor, Andrej, Fehrenbach, Henry, Innis, Jeffrey W., Washburn, Joseph, Levy, Shawn, Lifton, Richard P., Otto, Edgar A., Han, Zhe, Hildebrandt, Friedhelm
Publicado no J Clin Invest (2015)

Transition structures and timing of transfer from paediatric to adult-based care after kidney transplantation in Germany: a qualitative study

Por Prüfe, Jenny, Dierks, Marie-Luise, Bethe, Dirk, Oldhafer, Martina, Müther, Silvia, Thumfart, Julia, Feldkötter, Markus, Büscher, Anja, Sauerstein, Katja, Hansen, Matthias, Pohl, Martin, Drube, Jens, Thiel, Florian, Rieger, Susanne, John, Ulrike, Taylan, Christina, Dittrich, Katalin, Hollenbach, Sabine, Klaus, Günter, Fehrenbach, Henry, Kranz, Birgitta, Montoya, Carmen, Lange-Sperandio, Bärbel, Ruckenbrod, Bettina, Billing, Heiko, Staude, Hagen, Brunkhorst, Reinhard, Rusai, Krisztina, Pape, Lars, Kreuzer, Martin
Publicado no BMJ Open (2017)

Transitional Care and Adherence of Adolescents and Young Adults After Kidney Transplantation in Germany and Austria: A Binational Observatory Census Within the TRANSNephro Trial

Por Kreuzer, Martin, Prüfe, Jenny, Oldhafer, Martina, Bethe, Dirk, Dierks, Marie-Luise, Müther, Silvia, Thumfart, Julia, Hoppe, Bernd, Büscher, Anja, Rascher, Wolfgang, Hansen, Matthias, Pohl, Martin, Kemper, Markus J., Drube, Jens, Rieger, Susanne, John, Ulrike, Taylan, Christina, Dittrich, Katalin, Hollenbach, Sabine, Klaus, Günter, Fehrenbach, Henry, Kranz, Birgitta, Montoya, Carmen, Lange-Sperandio, Bärbel, Ruckenbrodt, Bettina, Billing, Heiko, Staude, Hagen, Heindl-Rusai, Krisztina, Brunkhorst, Reinhard, Pape, Lars
Publicado no Medicine (Baltimore) (2015)

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

Por O’Toole, John F., Liu, Yangjian, Davis, Erica E., Westlake, Christopher J., Attanasio, Massimo, Otto, Edgar A., Seelow, Dominik, Nurnberg, Gudrun, Becker, Christian, Nuutinen, Matti, Kärppä, Mikko, Ignatius, Jaakko, Uusimaa, Johanna, Pakanen, Salla, Jaakkola, Elisa, van den Heuvel, Lambertus P., Fehrenbach, Henry, Wiggins, Roger, Goyal, Meera, Zhou, Weibin, Wolf, Matthias T.F., Wise, Eric, Helou, Juliana, Allen, Susan J., Murga-Zamalloa, Carlos A., Ashraf, Shazia, Chaki, Moumita, Heeringa, Saskia, Chernin, Gil, Hoskins, Bethan E., Chaib, Hassan, Gleeson, Joseph, Kusakabe, Takehiro, Suzuki, Takako, Isaac, R. Elwyn, Quarmby, Lynne M., Tennant, Bryan, Fujioka, Hisashi, Tuominen, Hannu, Hassinen, Ilmo, Lohi, Hellevi, van Houten, Judith L., Rotig, Agnes, Sayer, John A., Rolinski, Boris, Freisinger, Peter, Madhavan, Sethu M., Herzer, Martina, Madignier, Florence, Prokisch, Holger, Nurnberg, Peter, Jackson, Peter K., Khanna, Hemant, Katsanis, Nicholas, Hildebrandt, Friedhelm
Publicado em 2010

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

Por O’Toole, John F., Liu, Yangjian, Davis, Erica E., Westlake, Christopher J., Attanasio, Massimo, Otto, Edgar A., Seelow, Dominik, Nurnberg, Gudrun, Becker, Christian, Nuutinen, Matti, Kärppä, Mikko, Ignatius, Jaakko, Uusimaa, Johanna, Pakanen, Salla, Jaakkola, Elisa, van den Heuvel, Lambertus P., Fehrenbach, Henry, Wiggins, Roger, Goyal, Meera, Zhou, Weibin, Wolf, Matthias T.F., Wise, Eric, Helou, Juliana, Allen, Susan J., Murga-Zamalloa, Carlos A., Ashraf, Shazia, Chaki, Moumita, Heeringa, Saskia, Chernin, Gil, Hoskins, Bethan E., Chaib, Hassan, Gleeson, Joseph, Kusakabe, Takehiro, Suzuki, Takako, Isaac, R. Elwyn, Quarmby, Lynne M., Tennant, Bryan, Fujioka, Hisashi, Tuominen, Hannu, Hassinen, Ilmo, Lohi, Hellevi, van Houten, Judith L., Rotig, Agnes, Sayer, John A., Rolinski, Boris, Freisinger, Peter, Madhavan, Sethu M., Herzer, Martina, Madignier, Florence, Prokisch, Holger, Nurnberg, Peter, Jackson, Peter, Khanna, Hemant, Katsanis, Nicholas, Hildebrandt, Friedhelm
Publicado em 2010

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome

Por Warejko, Jillian K., Tan, Weizhen, Daga, Ankana, Schapiro, David, Lawson, Jennifer A., Shril, Shirlee, Lovric, Svjetlana, Ashraf, Shazia, Rao, Jia, Hermle, Tobias, Jobst-Schwan, Tilman, Widmeier, Eugen, Majmundar, Amar J., Schneider, Ronen, Gee, Heon Yung, Schmidt, J. Magdalena, Vivante, Asaf, van der Ven, Amelie T., Ityel, Hadas, Chen, Jing, Sadowski, Carolin E., Kohl, Stefan, Pabst, Werner L., Nakayama, Makiko, Somers, Michael J.G., Rodig, Nancy M., Daouk, Ghaleb, Baum, Michelle, Stein, Deborah R., Ferguson, Michael A., Traum, Avram Z., Soliman, Neveen A., Kari, Jameela A., El Desoky, Sherif, Fathy, Hanan, Zenker, Martin, Bakkaloglu, Sevcan A., Müller, Dominik, Noyan, Aytul, Ozaltin, Fatih, Cadnapaphornchai, Melissa A., Hashmi, Seema, Hopcian, Jeffrey, Kopp, Jeffrey B., Benador, Nadine, Bockenhauer, Detlef, Bogdanovic, Radovan, Stajić, Nataša, Chernin, Gil, Ettenger, Robert, Fehrenbach, Henry, Kemper, Markus, Munarriz, Reyner Loza, Podracka, Ludmila, Büscher, Rainer, Serdaroglu, Erkin, Tasic, Velibor, Mane, Shrikant, Lifton, Richard P., Braun, Daniela A., Hildebrandt, Friedhelm
Publicado no Clin J Am Soc Nephrol (2018)

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

Por Ashraf, Shazia, Kudo, Hiroki, Rao, Jia, Kikuchi, Atsuo, Widmeier, Eugen, Lawson, Jennifer A., Tan, Weizhen, Hermle, Tobias, Warejko, Jillian K., Shril, Shirlee, Airik, Merlin, Jobst-Schwan, Tilman, Lovric, Svjetlana, Braun, Daniela A., Gee, Heon Yung, Schapiro, David, Majmundar, Amar J., Sadowski, Carolin E., Pabst, Werner L., Daga, Ankana, van der Ven, Amelie T., Schmidt, Johanna M., Low, Boon Chuan, Gupta, Anjali Bansal, Tripathi, Brajendra K., Wong, Jenny, Campbell, Kirk, Metcalfe, Kay, Schanze, Denny, Niihori, Tetsuya, Kaito, Hiroshi, Nozu, Kandai, Tsukaguchi, Hiroyasu, Tanaka, Ryojiro, Hamahira, Kiyoshi, Kobayashi, Yasuko, Takizawa, Takumi, Funayama, Ryo, Nakayama, Keiko, Aoki, Yoko, Kumagai, Naonori, Iijima, Kazumoto, Fehrenbach, Henry, Kari, Jameela A., El Desoky, Sherif, Jalalah, Sawsan, Bogdanovic, Radovan, Stajić, Nataša, Zappel, Hildegard, Rakhmetova, Assel, Wassmer, Sharon-Rose, Jungraithmayr, Therese, Strehlau, Juergen, Kumar, Aravind Selvin, Bagga, Arvind, Soliman, Neveen A., Mane, Shrikant M., Kaufman, Lewis, Lowy, Douglas R., Jairajpuri, Mohamad A., Lifton, Richard P., Pei, York, Zenker, Martin, Kure, Shigeo, Hildebrandt, Friedhelm
Publicado no Nat Commun (2018)