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Page 1
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Riedhammer KM, Nguyen TT, Koşukcu C, Calzada-Wack J, Li Y, Assia Batzir N, Saygılı S, Wimmers V, Kim GJ, Chrysanthou M, Bakey Z, Sofrin-Drucker E, Kraiger M, Sanz-Moreno A, Amarie OV, Rathkolb B, Klein-Rodewald T, Garrett L, Hölter SM, Seisenberger C, Haug S, Schlosser P, Marschall S, Wurst W, Fuchs H, Gailus-Durner V, Wuttke M, Hrabe de Angelis M, Ćomić J, Akgün Doğan Ö, Özlük Y, Taşdemir M, Ağbaş A, Canpolat N, Orenstein N, Çalışkan S, Weber RG, Bergmann C, Jeanpierre C, Saunier S, Lim TY, Hildebrandt F, Alhaddad B, Basel-Salmon L, Borovitz Y, Wu K, Antony D, Matschkal J, Schaaf CW, Renders L, Schmaderer C, Rogg M, Schell C, Meitinger T, Heemann U, Köttgen A, Arnold SJ, Ozaltin F, Schmidts M, Hoefele J. Riedhammer KM, et al. Kidney Int. 2024 Apr;105(4):844-864. doi: 10.1016/j.kint.2023.11.032. Epub 2023 Dec 26. Kidney Int. 2024. PMID: 38154558 Free PMC article.
Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles.
Riedhammer KM, Siegel C, Alhaddad B, Montoya C, Kovacs-Nagy R, Wagner M, Meitinger T, Hoefele J. Riedhammer KM, et al. Front Pediatr. 2017 Nov 24;5:251. doi: 10.3389/fped.2017.00251. eCollection 2017. Front Pediatr. 2017. PMID: 29226118 Free PMC article.
Severe ichthyosis in MPDU1-CDG.
Thiel C, Wortmann S, Riedhammer K, Alhaddad B, Mayatepek E, Prokisch H, Distelmaier F. Thiel C, et al. J Inherit Metab Dis. 2018 Nov;41(6):1293-1294. doi: 10.1007/s10545-018-0189-9. Epub 2018 May 2. J Inherit Metab Dis. 2018. PMID: 29721919
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: riedhammer km. Front Pediatr. 2018 Jun 12;6:171. doi: 10.3389/fped.2018.00171. eCollection 2018. Front Pediatr. 2018. PMID: 29946535 Free PMC 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 EP, Braunisch MC, Pucci Pegler S, Satanovskij R, Riedhammer KM, Günthner R, Gross O, Nagel M, Renders L, Hoefele J. Macheroux EP, et al. Among authors: riedhammer km. Front Pediatr. 2019 Nov 26;7:485. doi: 10.3389/fped.2019.00485. eCollection 2019. Front Pediatr. 2019. PMID: 31850286 Free PMC article.
Adult macrophage activation syndrome-haemophagocytic lymphohistiocytosis: 'of plasma exchange and immunosuppressive escalation strategies' - a single centre reflection.
Lorenz G, Schul L, Schraml F, Riedhammer KM, Einwächter H, Verbeek M, Slotta-Huspenina J, Schmaderer C, Küchle C, Heemann U, Moog P. Lorenz G, et al. Among authors: riedhammer km. Lupus. 2020 Mar;29(3):324-333. doi: 10.1177/0961203320901594. Epub 2020 Feb 3. Lupus. 2020. PMID: 32013725
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. 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
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: riedhammer km. 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.
47 results