Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Jasmina Ćomić"'
Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age
Autor:
Roman Günthner, Lea Knipping, Stefanie Jeruschke, Robin Satanoskij, Bettina Lorenz-Depiereux, Clara Hemmer, Matthias C. Braunisch, Korbinian M. Riedhammer, Jasmina Ćomić, Burkhard Tönshoff, Velibor Tasic, Nora Abazi-Emini, Valbona Nushi-Stavileci, Karin Buiting, Nikola Gjorgjievski, Ana Momirovska, Ludwig Patzer, Martin Kirschstein, Oliver Gross, Adrian Lungu, Stefanie Weber, Lutz Renders, Uwe Heemann, Thomas Meitinger, Anja K. Büscher, Julia Hoefele
Publikováno v:
Frontiers in Medicine, Vol 9 (2022)
X-linked Alport syndrome (AS) caused by hemizygous disease-causing variants in COL4A5 primarily affects males. Females with a heterozygous state show a diverse phenotypic spectrum ranging from microscopic hematuria to end-stage kidney disease (ESKD)
Externí odkaz:
https://doaj.org/article/b7bb8aa91fa849b0bfdf65d2e43b6deb
Autor:
Maryam Najafi, Korbinian M. Riedhammer, Aboulfazl Rad, Paria Najarzadeh Torbati, Riccardo Berutti, Isabel Schüle, Sophie Schroda, Thomas Meitinger, Jasmina Ćomić, Simin Sadeghi Bojd, Tayebeh Baranzehi, Azadeh Shojaei, Anoush Azarfar, Mahmood Reza Khazaei, Anna Köttgen, Rolf Backofen, Ehsan Ghayoor Karimiani, Julia Hoefele, Miriam Schmidts
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
BackgroundSteroid resistant nephrotic syndrome (SRNS) represents a significant renal disease burden in childhood and adolescence. In contrast to steroid sensitive nephrotic syndrome (SSNS), renal outcomes are significantly poorer in SRNS. Over the pa
Externí odkaz:
https://doaj.org/article/7e9cdafe92c94f5181a68955cd99abd7
Autor:
Jasmina Ćomić, Korbinian M. Riedhammer, Roman Günthner, Christian W. Schaaf, Patrick Richthammer, Hannes Simmendinger, Donald Kieffer, Riccardo Berutti, Velibor Tasic, Nora Abazi-Emini, Valbona Nushi-Stavileci, Jovana Putnik, Nataša Stajic, Adrian Lungu, Oliver Gross, Lutz Renders, Uwe Heemann, Matthias C. Braunisch, Thomas Meitinger, Julia Hoefele
Publikováno v:
Frontiers in Medicine, Vol 9 (2022)
Disease-causing variants in COL4A3-5 are associated with type-IV-collagen-related nephropathy, a genetically and phenotypically multifaceted disorder comprising Alport syndrome (AS) and thin basement membrane nephropathy (TBMN) and autosomal, X-linke
Externí odkaz:
https://doaj.org/article/00d7a4d3a820481e94eec216b9d586ac
Autor:
Matthias C. Braunisch, Clara Maria Großewinkelmann, Martin Menke, Nora Hannane, Riccardo Berutti, Jasmina Ćomić, Roman Günthner, Lutz Renders, Christoph Schmaderer, Uwe Heemann, Korbinian M. Riedhammer, Matias Wagner, Julia Hoefele
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ac4a91d87465c6c89a163f4c2f65c210
https://doi.org/10.2139/ssrn.4344628
https://doi.org/10.2139/ssrn.4344628
Autor:
Korbinian M. Riedhammer, Jasmina Ćomić, Velibor Tasic, Jovana Putnik, Nora Abazi-Emini, Aleksandra Paripovic, Natasa Stajic, Thomas Meitinger, Valbona Nushi-Stavileci, Riccardo Berutti, Matthias C. Braunisch, Julia Hoefele
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 as part of a syndromic disorder and can lead to end-stage kidney failure. A monogenic caus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fe93b600d7c95a0780a7b6a7d115b3b
https://doi.org/10.21203/rs.3.rs-2251540/v1
https://doi.org/10.21203/rs.3.rs-2251540/v1
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