Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome

por Gibson, Joel T., Sadeghi-Alavijeh, Omid, Gale, Daniel P., Rothe, Hansjörg, Savige, Judy
Publicado 2022

Ecto-5' -Nucleotidase CD73 (NT5E), vitamin D receptor and FGF23 gene polymorphisms may play a role in the development of calcific uremic arteriolopathy in dialysis patients – Data...

por Rothe, Hansjörg, Brandenburg, Vincent, Haun, Margot, Kollerits, Barbara, Kronenberg, Florian, Ketteler, Markus, Wanner, Christoph
Publicado 2017

Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome

por Gibson, Joel T., Huang, Mary, Shenelli Croos Dabrera, Marina, Shukla, Krushnam, Rothe, Hansjörg, Hilbert, Pascale, Deltas, Constantinos, Storey, Helen, Lipska-Ziętkiewicz, Beata S., Chan, Melanie M. Y., Sadeghi-Alavijeh, Omid, Gale, Daniel P., Cerkauskaite, Agne, Savige, Judy
Publicado 2022

Humoral and cellular immunity to SARS-CoV-2 vaccination in renal transplant versus dialysis patients: A prospective, multicenter observational study using mRNA-1273 or BNT162b2 mRN...

por Stumpf, Julian, Siepmann, Torsten, Lindner, Tom, Karger, Claudia, Schwöbel, Jörg, Anders, Leona, Faulhaber-Walter, Robert, Schewe, Jens, Martin, Heike, Schirutschke, Holger, Barnett, Kerstin, Hüther, Jan, Müller, Petra, Langer, Torsten, Pluntke, Thilo, Anding-Rost, Kirsten, Meistring, Frank, Stehr, Thomas, Pietzonka, Annegret, Escher, Katja, Cerny, Simon, Rothe, Hansjörg, Pistrosch, Frank, Seidel, Harald, Paliege, Alexander, Beige, Joachim, Bast, Ingolf, Steglich, Anne, Gembardt, Florian, Kessel, Friederike, Kröger, Hannah, Arndt, Patrick, Sradnick, Jan, Frank, Kerstin, Klimova, Anna, Mauer, René, Grählert, Xina, Anft, Moritz, Blazquez-Navarro, Arturo, Westhoff, Timm H, Stervbo, Ulrik, Tonn, Torsten, Babel, Nina, Hugo, Christian
Publicado 2021

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