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Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H. Savige J, et al. Among authors: gross o. Pediatr Nephrol. 2019 Jul;34(7):1175-1189. doi: 10.1007/s00467-018-3985-4. Epub 2018 Jul 9. Pediatr Nephrol. 2019. PMID: 29987460 Free article. Review.
Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial.
Boeckhaus J, Hoefele J, Riedhammer KM, Tönshoff B, Ehren R, Pape L, Latta K, Fehrenbach H, Lange-Sperandio B, Kettwig M, Hoyer P, Staude H, Konrad M, John U, Gellermann J, Hoppe B, Galiano M, Gessner M, Pohl M, Bergmann C, Friede T, Gross O; GPN Study Group and EARLY PRO-TECT Alport Investigators. Boeckhaus J, et al. Among authors: gross o. Clin Genet. 2021 Jan;99(1):143-156. doi: 10.1111/cge.13861. Epub 2020 Oct 25. Clin Genet. 2021. PMID: 33040356
The 2019 and 2021 International Workshops on Alport Syndrome.
Daga S, Ding J, Deltas C, Savige J, Lipska-Ziętkiewicz BS, Hoefele J, Flinter F, Gale DP, Aksenova M, Kai H, Perin L, Barua M, Torra R, Miner JH, Massella L, Ljubanović DG, Lennon R, Weinstock AB, Knebelmann B, Cerkauskaite A, Gear S, Gross O, Turner AN, Baldassarri M, Pinto AM, Renieri A. Daga S, et al. Among authors: gross o. Eur J Hum Genet. 2022 May;30(5):507-516. doi: 10.1038/s41431-022-01075-0. Epub 2022 Mar 9. Eur J Hum Genet. 2022. PMID: 35260866 Free PMC article.
The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy-A human genetics department experience.
Ćomić J, Riedhammer KM, Günthner R, Schaaf CW, Richthammer P, Simmendinger H, Kieffer D, Berutti R, Tasic V, Abazi-Emini N, Nushi-Stavileci V, Putnik J, Stajic N, Lungu A, Gross O, Renders L, Heemann U, Braunisch MC, Meitinger T, Hoefele J. Ćomić J, et al. Among authors: gross o. Front Med (Lausanne). 2022 Aug 31;9:957733. doi: 10.3389/fmed.2022.957733. eCollection 2022. Front Med (Lausanne). 2022. PMID: 36117978 Free PMC 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 MC, Riedhammer KM, Ćomić J, Tönshoff B, Tasic V, Abazi-Emini N, Nushi-Stavileci V, Buiting K, Gjorgjievski N, Momirovska A, Patzer L, Kirschstein M, Gross O, Lungu A, Weber S, Renders L, Heemann U, Meitinger T, Büscher AK, Hoefele J. Günthner R, et al. Among authors: gross o. Front Med (Lausanne). 2022 Oct 20;9:953643. doi: 10.3389/fmed.2022.953643. eCollection 2022. Front Med (Lausanne). 2022. PMID: 36341250 Free PMC article.
285 results