Search Results - "Abazi‐Emini, Nora"

Is there a dominant‐negative effect in individuals with heterozygous disease‐causing variants in COL4A3/COL4A4? by Riedhammer, Korbinian M., Simmendinger, Hannes, Tasic, Velibor, Putnik, Jovana, Abazi‐Emini, Nora, Stajic, Natasa, Berutti, Riccardo, Weidenbusch, Marc, Patzer, Ludwig, Lungu, Adrian, Milosevski‐Lomic, Gordana, Günthner, Roman, Braunisch, Matthias C., Ćomić, Jasmina, Hoefele, Julia

“…Alport syndrome (AS) shows a broad phenotypic spectrum ranging from isolated microscopic hematuria (MH) to end‐stage kidney disease (ESKD). Monoallelic…”
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The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy—A human genetics department experience by 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

“…Disease-causing variants in COL4A3- 5 are associated with type-IV-collagen-related nephropathy, a genetically and phenotypically multifaceted disorder…”
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Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age by 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

“…X-linked Alport syndrome (AS) caused by hemizygous disease-causing variants in COL4A5 primarily affects males. Females with a heterozygous state show a diverse…”
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Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience by 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

“…Individuals with congenital anomalies of the kidney and urinary tract (CAKUT) show a broad spectrum of malformations. CAKUT can occur in an isolated fashion or…”
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