Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

416 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease.
Schormair B, Plag J, Kaffe M, Gross N, Czamara D, Samtleben W, Lichtner P, Ströhle A, Stefanidis I, Vainas A, Dardiotis E, Sakkas GK, Gieger C, Müller-Myhsok B, Meitinger T, Heemann U, Hadjigeorgiou GM, Oexle K, Winkelmann J. Schormair B, et al. Among authors: heemann u. J Med Genet. 2011 Jul;48(7):462-6. doi: 10.1136/jmg.2010.087858. Epub 2011 May 14. J Med Genet. 2011. PMID: 21572129 Free PMC article.
Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.
Hopfner F, Schormair B, Knauf F, Berthele A, Tölle TR, Baron R, Maier C, Treede RD, Binder A, Sommer C, Maihöfner C, Kunz W, Zimprich F, Heemann U, Pfeufer A, Näbauer M, Kääb S, Nowak B, Gieger C, Lichtner P, Trenkwalder C, Oexle K, Winkelmann J. Hopfner F, et al. Among authors: heemann u. BMC Neurol. 2011 Oct 27;11:134. doi: 10.1186/1471-2377-11-134. BMC Neurol. 2011. PMID: 22032306 Free PMC article.
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: heemann u. 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.
A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the diagnosis of uromodulin-associated kidney disease.
Satanovskij R, Bader A, Block M, Herbst V, Schlumberger W, Haack T, Nockher WA, Heemann U, Renders L, Schmaderer C, Angermann S, Wen M, Meitinger T, Scherberich J, Steubl D. Satanovskij R, et al. Among authors: heemann u. Clin Biochem. 2017 Feb;50(3):155-158. doi: 10.1016/j.clinbiochem.2016.10.003. Epub 2016 Oct 10. Clin Biochem. 2017. PMID: 27729211
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: heemann u. Front Genet. 2021 May 26;12:642849. doi: 10.3389/fgene.2021.642849. eCollection 2021. Front Genet. 2021. PMID: 34122504 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: heemann u. 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.
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: heemann u. 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.
416 results