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Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review.
Nowak-Ciołek M, Ciołek M, Tomaszewska A, Hildebrandt F, Kitzler T, Deutsch K, Lemberg K, Shril S, Szczepańska M, Zachurzok A. Nowak-Ciołek M, et al. Among authors: lemberg k. Front Endocrinol (Lausanne). 2024 Jul 18;15:1424819. doi: 10.3389/fendo.2024.1424819. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 39092285 Free PMC article. Review.
Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studies.
Buerger F, Merz LM, Saida K, Yu S, Salmanullah D, Lemberg K, Mertens ND, Mansour B, Kolvenbach CM, Yousef K, Hölzel S, Braun A, Franken GAC, Goncalves KA, Steinsapir A, Endlich N, Schneider R, Shril S, Hildebrandt F. Buerger F, et al. Among authors: lemberg k. Am J Physiol Renal Physiol. 2024 May 1;326(5):F780-F791. doi: 10.1152/ajprenal.00412.2023. Epub 2024 Mar 14. Am J Physiol Renal Physiol. 2024. PMID: 38482553
Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions.
Deutsch K, Klämbt V, Kitzler TM, Jobst-Schwan T, Schneider R, Buerger F, Seltzsam S, El Desoky S, Kari JA, Hafeez F, Szczepańska M, Eid LA, Awad HS, Al-Saffar M, Soliman NA, Tasic V, Nicolas-Frank C, Yousef K, Schierbaum LM, Schneider S, Halawi A, Elmubarak I, Lemberg K, Shril S, Mane SM, Rodig N, Hildebrandt F. Deutsch K, et al. Among authors: lemberg k. Genes Dis. 2023 Sep 15;11(5):101111. doi: 10.1016/j.gendis.2023.101111. eCollection 2024 Sep. Genes Dis. 2023. PMID: 38868576 Free PMC article. No abstract available.
Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type.
Lemberg K, Mertens ND, Yousef K, Schneider R, Merz LM, Mansour B, Salmanullah D, Kolvenbach CM, Saida K, Yu S, Hölzel S, Steinsapir A, Goncalves KA, Nicolas Frank C, Franken GAC, Shril S, Buerger F, Hildebrandt F. Lemberg K, et al. Sci Rep. 2024 Jul 10;14(1):15916. doi: 10.1038/s41598-024-64883-y. Sci Rep. 2024. PMID: 38987283 Free PMC article.
Phenotypic quantification of Nphs1-deficient mice.
Schneider R, Mansour B, Kolvenbach CM, Buerger F, Salmanullah D, Lemberg K, Merz LM, Mertens ND, Saida K, Yousef K, Franken GAC, Bao A, Yu S, Hölzel S, Nicolas-Frank C, Steinsapir A, Goncalves KA, Shril S, Hildebrandt F. Schneider R, et al. Among authors: lemberg k. J Nephrol. 2024 Jul 14. doi: 10.1007/s40620-024-01987-8. Online ahead of print. J Nephrol. 2024. PMID: 39003671
Correction to: Phenotypic quantification of Nphs1‑deficient mice.
Schneider R, Mansour B, Kolvenbach CM, Buerger F, Salmanullah D, Lemberg K, Merz LM, Mertens ND, Saida K, Yousef K, Franken GAC, Bao A, Yu S, Hölzel S, Nicolas-Frank C, Steinsapir A, Goncalves KA, Shril S, Hildebrandt F. Schneider R, et al. Among authors: lemberg k. J Nephrol. 2024 Jul;37(6):1723. doi: 10.1007/s40620-024-02060-0. J Nephrol. 2024. PMID: 39115675 No abstract available.
Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment.
Buerger F, Salmanullah D, Liang L, Gauntner V, Krueger K, Qi M, Sharma V, Rubin A, Ball D, Lemberg K, Saida K, Merz LM, Sever S, Issac B, Sun L, Guerrero-Castillo S; Nephrotic Syndrome Study Network (NEPTUNE); Gomez AC, McNulty MT, Sampson MG, Al-Hamed MH, Saleh MM, Shalaby M, Kari J, Fawcett JP, Hildebrandt F, Majmundar AJ. Buerger F, et al. Among authors: lemberg k. medRxiv [Preprint]. 2024 Mar 21:2024.03.17.24303374. doi: 10.1101/2024.03.17.24303374. medRxiv. 2024. PMID: 38562757 Free PMC article. Preprint.
42 results