Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS

por Braunisch, Matthias Christoph, Riedhammer, Korbinian Maria, Herr, Pierre-Maurice, Draut, Sarah, Günthner, Roman, Wagner, Matias, Weidenbusch, Marc, Lungu, Adrian, Alhaddad, Bader, Renders, Lutz, Strom, Tim M., Heemann, Uwe, Meitinger, Thomas, Schmaderer, Christoph, Hoefele, Julia
Publicado 2020

The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy—A human genetics department experience

por Ćomić, Jasmina, Riedhammer, Korbinian M., Günthner, Roman, Schaaf, Christian W., Richthammer, Patrick, Simmendinger, Hannes, Kieffer, Donald, Berutti, Riccardo, Tasic, Velibor, Abazi-Emini, Nora, Nushi-Stavileci, Valbona, Putnik, Jovana, Stajic, Nataša, Lungu, Adrian, Gross, Oliver, Renders, Lutz, Heemann, Uwe, Braunisch, Matthias C., Meitinger, Thomas, Hoefele, Julia
Publicado 2022

Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age

por Günthner, Roman, Knipping, Lea, Jeruschke, Stefanie, Satanoskij, Robin, Lorenz-Depiereux, Bettina, Hemmer, Clara, Braunisch, Matthias C., Riedhammer, Korbinian M., Ćomić, Jasmina, Tönshoff, Burkhard, Tasic, Velibor, Abazi-Emini, Nora, Nushi-Stavileci, Valbona, Buiting, Karin, Gjorgjievski, Nikola, Momirovska, Ana, Patzer, Ludwig, Kirschstein, Martin, Gross, Oliver, Lungu, Adrian, Weber, Stefanie, Renders, Lutz, Heemann, Uwe, Meitinger, Thomas, Büscher, Anja K., Hoefele, Julia
Publicado 2022

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

por Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, Lipska-Ziętkiewicz, Beata S.
Publicado 2021

Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus

por Jiang, Simon H., Athanasopoulos, Vicki, Ellyard, Julia I., Chuah, Aaron, Cappello, Jean, Cook, Amelia, Prabhu, Savit B., Cardenas, Jacob, Gu, Jinghua, Stanley, Maurice, Roco, Jonathan A., Papa, Ilenia, Yabas, Mehmet, Walters, Giles D., Burgio, Gaetan, McKeon, Kathryn, Byers, James M., Burrin, Charlotte, Enders, Anselm, Miosge, Lisa A., Canete, Pablo F., Jelusic, Marija, Tasic, Velibor, Lungu, Adrian C., Alexander, Stephen I., Kitching, Arthur R., Fulcher, David A., Shen, Nan, Arsov, Todor, Gatenby, Paul A., Babon, Jeff J., Mallon, Dominic F., de Lucas Collantes, Carmen, Stone, Eric A., Wu, Philip, Field, Matthew A., Andrews, Thomas D., Cho, Eun, Pascual, Virginia, Cook, Matthew C., Vinuesa, Carola G.
Publicado 2019

C4 nephritic factor in patients with immune-complex-mediated membranoproliferative glomerulonephritis and C3-glomerulopathy

por Garam, Nóra, Prohászka, Zoltán, Szilágyi, Ágnes, Aigner, Christof, Schmidt, Alice, Gaggl, Martina, Sunder-Plassmann, Gere, Bajcsi, Dóra, Brunner, Jürgen, Dumfarth, Alexandra, Cejka, Daniel, Flaschberger, Stefan, Flögelova, Hana, Haris, Ágnes, Hartmann, Ágnes, Heilos, Andreas, Mueller, Thomas, Rusai, Krisztina, Arbeiter, Klaus, Hofer, Johannes, Jakab, Dániel, Sinkó, Mária, Szigeti, Erika, Bereczki, Csaba, Janko, Viktor, Kelen, Kata, Reusz, György S., Szabó, Attila J., Klenk, Nóra, Kóbor, Krisztina, Kojc, Nika, Knechtelsdorfer, Maarten, Laganovic, Mario, Lungu, Adrian Catalin, Meglic, Anamarija, Rus, Rina, Kersnik-Levart, Tanja, Macioniene, Ernesta, Miglinas, Marius, Pawłowska, Anna, Stompór, Tomasz, Podracka, Ludmila, Rudnicki, Michael, Mayer, Gert, Romana Rysava, Reiterova, Jana, Saraga, Marijan, Tomáš Seeman, Zieg, Jakub, Sládková, Eva, Szabó, Tamás, Capitanescu, Andrei, Stancu, Simona, Tisljar, Miroslav, Galesic, Kresimir, Tislér, András, Vainumäe, Inga, Windpessl, Martin, Zaoral, Tomas, Zlatanova, Galia, Csuka, Dorottya
Publicado 2019

Validation of distinct pathogenic patterns in a cohort of membranoproliferative glomerulonephritis patients by cluster analysis

por Garam, Nóra, Prohászka, Zoltán, Szilágyi, Ágnes, Aigner, Christof, Schmidt, Alice, Gaggl, Martina, Sunder-Plassmann, Gere, Bajcsi, Dóra, Brunner, Jürgen, Dumfarth, Alexandra, Cejka, Daniel, Flaschberger, Stefan, Flögelova, Hana, Haris, Ágnes, Hartmann, Ágnes, Heilos, Andreas, Mueller, Thomas, Rusai, Krisztina, Arbeiter, Klaus, Hofer, Johannes, Jakab, Dániel, Sinkó, Mária, Szigeti, Erika, Bereczki, Csaba, Janko, Viktor, Kelen, Kata, Reusz, György S, Szabó, Attila J, Klenk, Nóra, Kóbor, Krisztina, Kojc, Nika, Knechtelsdorfer, Maarten, Laganovic, Mario, Lungu, Adrian Catalin, Meglic, Anamarija, Rus, Rina, Kersnik-Levart, Tanja, Macioniene, Ernesta, Miglinas, Marius, Pawłowska, Anna, Stompór, Tomasz, Podracka, Ludmila, Rudnicki, Michael, Mayer, Gert, Rysava, Romana, Reiterova, Jana, Saraga, Marijan, Seeman, Tomáš, Zieg, Jakub, Sládková, Eva, Szabó, Tamás, Capitanescu, Andrei, Stancu, Simona, Tisljar, Miroslav, Galesic, Kresimir, Tislér, András, Vainumäe, Inga, Windpessl, Martin, Zaoral, Tomas, Zlatanova, Galia, Csuka, Dorottya
Publicado 2019

FHR-5 Serum Levels and CFHR5 Genetic Variations in Patients With Immune Complex-Mediated Membranoproliferative Glomerulonephritis and C3-Glomerulopathy

por Garam, Nóra, Cserhalmi, Marcell, Prohászka, Zoltán, Szilágyi, Ágnes, Veszeli, Nóra, Szabó, Edina, Uzonyi, Barbara, Iliás, Attila, Aigner, Christof, Schmidt, Alice, Gaggl, Martina, Sunder-Plassmann, Gere, Bajcsi, Dóra, Brunner, Jürgen, Dumfarth, Alexandra, Cejka, Daniel, Flaschberger, Stefan, Flögelova, Hana, Haris, Ágnes, Hartmann, Ágnes, Heilos, Andreas, Mueller, Thomas, Rusai, Krisztina, Arbeiter, Klaus, Hofer, Johannes, Jakab, Dániel, Sinkó, Mária, Szigeti, Erika, Bereczki, Csaba, Janko, Viktor, Kelen, Kata, Reusz, György S., Szabó, Attila J., Klenk, Nóra, Kóbor, Krisztina, Kojc, Nika, Knechtelsdorfer, Maarten, Laganovic, Mario, Lungu, Adrian Catalin, Meglic, Anamarija, Rus, Rina, Kersnik Levart, Tanja, Macioniene, Ernesta, Miglinas, Marius, Pawłowska, Anna, Stompór, Tomasz, Podracka, Ludmila, Rudnicki, Michael, Mayer, Gert, Rysava, Romana, Reiterova, Jana, Saraga, Marijan, Seeman, Tomáš, Zieg, Jakub, Sládková, Eva, Stajic, Natasa, Szabó, Tamás, Capitanescu, Andrei, Stancu, Simona, Tisljar, Miroslav, Galesic, Kresimir, Tislér, András, Vainumäe, Inga, Windpessl, Martin, Zaoral, Tomas, Zlatanova, Galia, Józsi, Mihály, Csuka, Dorottya
Publicado 2021