Author Hoefele, Julia

1 to 10 of 10 Items
  • 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 
    ​Details  DOI 
  • 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 
    ​Details  DOI 
  • 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 
    ​Details  DOI 
  • 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 
    ​Details  DOI 
  • 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 
    ​Details  DOI 
  • 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 
    ​Details  DOI 
  • 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 
    ​Details  DOI 
  • 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 
    ​Details  DOI 
  • 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 
    ​Details  DOI 
  • 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 
    ​Details  DOI 

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