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Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Riedhammer KM, Nguyen TT, Koşukcu C, Calzada-Wack J, Li Y, Saygılı S, Wimmers V, Kim GJ, Chrysanthou M, Bakey Z, Kraiger M, Sanz-Moreno A, Amarie OV, Rathkolb B, Klein-Rodewald T, Garrett L, Hölter SM, Seisenberger C, Haug S, Marschall S, Wurst W, Fuchs H, Gailus-Durner V, Wuttke M, de Angelis MH, Ćomić J, Doğan ÖA, Özlük Y, Taşdemir M, Ağbaş A, Canpolat N, Ćalışkan S, Weber R, Bergmann C, Jeanpierre C, Saunier S, Lim TY, Hildebrandt F, Alhaddad B, Wu K, Antony D, Matschkal J, Schaaf C, Renders L, Schmaderer C, Meitinger T, Heemann U, Köttgen A, Arnold S, Ozaltin F, Schmidts M, Hoefele J. Riedhammer KM, et al. Among authors: hoefele j. medRxiv [Preprint]. 2023 Mar 22:2023.03.21.23287206. doi: 10.1101/2023.03.21.23287206. medRxiv. 2023. Update in: Kidney Int. 2024 Apr;105(4):844-864. doi: 10.1016/j.kint.2023.11.032 PMID: 36993625 Free PMC article. Updated. Preprint.
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
Chaki M, Hoefele J, Allen SJ, Ramaswami G, Janssen S, Bergmann C, Heckenlively JR, Otto EA, Hildebrandt F. Chaki M, et al. Among authors: hoefele j. Kidney Int. 2011 Dec;80(11):1239-45. doi: 10.1038/ki.2011.284. Epub 2011 Aug 24. Kidney Int. 2011. PMID: 21866095 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. Among authors: hoefele j. Front Pediatr. 2017 Nov 24;5:251. doi: 10.3389/fped.2017.00251. eCollection 2017. Front Pediatr. 2017. PMID: 29226118 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: hoefele j. Front Pediatr. 2018 Jun 12;6:171. doi: 10.3389/fped.2018.00171. eCollection 2018. Front Pediatr. 2018. PMID: 29946535 Free PMC article.
100 results