Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience

por Riedhammer, Korbinian M., Ćomić, Jasmina, Tasic, Velibor, Putnik, Jovana, Abazi-Emini, Nora, Paripovic, Aleksandra, Stajic, Natasa, Meitinger, Thomas, Nushi-Stavileci, Valbona, Berutti, Riccardo, Braunisch, Matthias C., Hoefele, Julia
Publicado 2023

High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases

por Najafi, Maryam, Riedhammer, Korbinian M., Rad, Aboulfazl, Torbati, Paria Najarzadeh, Berutti, Riccardo, Schüle, Isabel, Schroda, Sophie, Meitinger, Thomas, Ćomić, Jasmina, Bojd, Simin Sadeghi, Baranzehi, Tayebeh, Shojaei, Azadeh, Azarfar, Anoush, Khazaei, Mahmood Reza, Köttgen, Anna, Backofen, Rolf, Karimiani, Ehsan Ghayoor, Hoefele, Julia, Schmidts, Miriam
Publicado 2022

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

Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

por Riedhammer, Korbinian M., Nguyen, Thanh-Minh T., Koşukcu, Can, Calzada-Wack, Julia, Li, Yong, Saygılı, Seha, Wimmers, Vera, Kim, Gwang-Jin, Chrysanthou, Marialena, Bakey, Zeineb, Kraiger, Markus, Sanz-Moreno, Adrián, Amarie, Oana V, Rathkolb, Birgit, Klein-Rodewald, Tanja, Garrett, Lillian, Hölter, Sabine M., Seisenberger, Claudia, Haug, Stefan, Marschall, Susan, Wurst, Wolfgang, Fuchs, Helmut, Gailus-Durner, Valerie, Wuttke, Matthias, de Angelis, Martin Hrabe, Ćomić, Jasmina, Doğan, Özlem Akgün, Özlük, Yasemin, Taşdemir, Mehmet, Ağbaş, Ayşe, Canpolat, Nur, Ćalışkan, Salim, Weber, Ruthild, Bergmann, Carsten, Jeanpierre, Cecile, Saunier, Sophie, Lim, Tze Y., Hildebrandt, Friedhelm, Alhaddad, Bader, Wu, Kaman, Antony, Dinu, Matschkal, Julia, Schaaf, Christian, Renders, Lutz, Schmaderer, Christoph, Meitinger, Thomas, Heemann, Uwe, Köttgen, Anna, Arnold, Sebastian, Ozaltin, Fatih, Schmidts, Miriam, Hoefele, Julia
Publicado 2023