Author Hoefele, Julia
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2018 | Journal Article
Expert consensus guidelines for the genetic diagnosis of Alport syndrome
Savige, J.; Ariani, F.; Mari, F.; Bruttini, M.; Renieri, A.; Gross, O. & Deltas, C. et al. (2018)
Pediatric Nephrology, 34(7) pp. 1175-1189. DOI: https://doi.org/10.1007/s00467-018-3985-4
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2019 | Journal Article |
Genetische Ursachen und Therapie beim Alport-Syndrom
Gross, O. & Hoefele, J. (2019)
Medizinische Genetik,(4) pp. 429-437. DOI: https://doi.org/10.1007/s11825-018-0214-2
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2019 | Journal Article |
The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome
Macheroux, E. P.; Braunisch, M. C.; Pucci Pegler, S.; Satanovskij, R.; Riedhammer, K. M.; Günthner, R. & Gross, O. et al. (2019)
Frontiers in Pediatrics, 7. DOI: https://doi.org/10.3389/fped.2019.00485
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2020 | Journal Article |
Precise variant interpretation, phenotype ascertainment, and genotype–phenotype correlation of children in the EARLY PRO‐TECT Alport trial
Boeckhaus, J.; Hoefele, J.; Riedhammer, K. M.; Tönshoff, B.; Ehren, R.; Pape, L. & Latta, K. et al. (2020)
Clinical Genetics, 99(1) pp. 143-156. DOI: https://doi.org/10.1111/cge.13861
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2022 | Journal Article
Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age
Günthner, R.; Knipping, L.; Jeruschke, S.; Satanoskij, R.; Lorenz-Depiereux, B.; Hemmer, C. & Braunisch, M. C. et al. (2022)
Frontiers in Medicine, 9 art. 953643. DOI: https://doi.org/10.3389/fmed.2022.953643
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2022 | Journal Article
Lifelong effect of therapy in young patients with the COL4A5 Alport missense variant p.(Gly624Asp): a prospective cohort study
Boeckhaus, J.; Hoefele, J.; Riedhammer, K. M; Nagel, M.; Beck, B. B; Choi, M. & Gollasch, M. et al. (2022)
Nephrology Dialysis Transplantation, art. gfac006. DOI: https://doi.org/10.1093/ndt/gfac006
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2022 | Journal Article |
The 2019 and 2021 International Workshops on Alport Syndrome
Daga, S.; Ding, J.; Deltas, C.; Savige, J.; Lipska-Ziętkiewicz, B. S.; Hoefele, J. & Flinter, F. et al. (2022)
European Journal of Human Genetics,. DOI: https://doi.org/10.1038/s41431-022-01075-0
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2022 | Journal Article |
The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy—A human genetics department experience
Ćomić, J.; Riedhammer, K. M.; Günthner, R.; Schaaf, C. W.; Richthammer, P.; Simmendinger, H. & Kieffer, D. et al. (2022)
Frontiers in Medicine, 9 art. 957733. DOI: https://doi.org/10.3389/fmed.2022.957733
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2023 | Journal Article | Erratum |
Correction: The 2019 and 2021 International workshops on Alport syndrome
Daga, S.; Ding, J.; Deltas, C.; Savige, J.; Lipska-Ziętkiewicz, B. S.; Hoefele, J. & Flinter, F. et al. (2023)
European Journal of Human Genetics,. DOI: https://doi.org/10.1038/s41431-023-01286-z
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2023 | Journal Article
Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice
Deltas, C.; Papagregoriou, G.; Louka, S. F.; Malatras, A.; Flinter, F.; Gale, D. P. & Gear, S. et al. (2023)
Genes, 14(9) pp. 1686. DOI: https://doi.org/10.3390/genes14091686
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