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Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?
Riedhammer KM, Simmendinger H, Tasic V, Putnik J, Abazi-Emini N, Stajic N, Berutti R, Weidenbusch M, Patzer L, Lungu A, Milosevski-Lomic G, Günthner R, Braunisch MC, Ćomić J, Hoefele J. Riedhammer KM, et al. Among authors: gunthner r. Clin Genet. 2024 Apr;105(4):406-414. doi: 10.1111/cge.14471. Epub 2024 Jan 12. Clin Genet. 2024. PMID: 38214412
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS.
Braunisch MC, Riedhammer KM, Herr PM, Draut S, Günthner R, Wagner M, Weidenbusch M, Lungu A, Alhaddad B, Renders L, Strom TM, Heemann U, Meitinger T, Schmaderer C, Hoefele J. Braunisch MC, et al. Among authors: gunthner r. Eur J Hum Genet. 2021 Feb;29(2):262-270. doi: 10.1038/s41431-020-00719-3. Epub 2020 Sep 4. Eur J Hum Genet. 2021. PMID: 32887937 Free PMC article.
Heterozygous COL4A3 Variants in Histologically Diagnosed Focal Segmental Glomerulosclerosis.
Braunisch MC, Büttner-Herold M, Günthner R, Satanovskij R, Riedhammer KM, Herr PM, Klein HG, Wahl D, Küchle C, Renders L, Heemann U, Schmaderer C, Hoefele J. Braunisch MC, et al. Among authors: gunthner r. Front Pediatr. 2018 Jun 12;6:171. doi: 10.3389/fped.2018.00171. eCollection 2018. Front Pediatr. 2018. PMID: 29946535 Free PMC article.
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies.
Riedhammer KM, Braunisch MC, Günthner R, Wagner M, Hemmer C, Strom TM, Schmaderer C, Renders L, Tasic V, Gucev Z, Nushi-Stavileci V, Putnik J, Stajić N, Weidenbusch M, Uetz B, Montoya C, Strotmann P, Ponsel S, Lange-Sperandio B, Hoefele J. Riedhammer KM, et al. Among authors: gunthner r. Am J Kidney Dis. 2020 Oct;76(4):460-470. doi: 10.1053/j.ajkd.2019.12.008. Epub 2020 Apr 28. Am J Kidney Dis. 2020. PMID: 32359821
Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Molecular Genetic Testing.
Stippel M, Riedhammer KM, Lange-Sperandio B, Geßner M, Braunisch MC, Günthner R, Bald M, Schmidts M, Strotmann P, Tasic V, Schmaderer C, Renders L, Heemann U, Hoefele J. Stippel M, et al. Among authors: gunthner r. Front Genet. 2021 May 26;12:642849. doi: 10.3389/fgene.2021.642849. eCollection 2021. Front Genet. 2021. PMID: 34122504 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: gunthner r. 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. 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.
Cognitive impairment and microvascular function in end-stage renal disease.
Angermann S, Günthner R, Hanssen H, Lorenz G, Braunisch MC, Steubl D, Matschkal J, Kemmner S, Hausinger R, Block Z, Haller B, Heemann U, Kotliar K, Grimmer T, Schmaderer C. Angermann S, et al. Among authors: gunthner r. Int J Methods Psychiatr Res. 2022 Jun;31(2):e1909. doi: 10.1002/mpr.1909. Epub 2022 Mar 15. Int J Methods Psychiatr Res. 2022. PMID: 35290686 Free PMC article.
40 results