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The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Petzold F, Billot K, Chen X, Henry C, Filhol E, Martin Y, Avramescu M, Douillet M, Morinière V, Krug P, Jeanpierre C, Tory K, Boyer O, Burgun A, Servais A, Salomon R, Benmerah A, Heidet L, Garcelon N, Antignac C, Zaidan M, Saunier S; INSERM–Necker Hospital NPH collaborative group. Petzold F, et al. Kidney Int. 2023 Aug;104(2):378-387. doi: 10.1016/j.kint.2023.05.007. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230223 Free article.
Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies.
Faviez C, Chen X, Garcelon N, Zaidan M, Billot K, Petzold F, Faour H, Douillet M, Rozet JM, Cormier-Daire V, Attié-Bitach T, Lyonnet S, Saunier S, Burgun A. Faviez C, et al. Among authors: petzold f. BMC Med Inform Decis Mak. 2024 May 24;24(1):134. doi: 10.1186/s12911-024-02538-8. BMC Med Inform Decis Mak. 2024. PMID: 38789985 Free PMC article.
Extended genomic HLA typing identifies previously unrecognized mismatches in living kidney transplantation.
Lehmann C, Pehnke S, Weimann A, Bachmann A, Dittrich K, Petzold F, Fürst D, de Fallois J, Landgraf R, Henschler R, Lindner TH, Halbritter J, Doxiadis I, Popp B, Münch J. Lehmann C, et al. Among authors: petzold f. Front Immunol. 2023 Jan 27;14:1094862. doi: 10.3389/fimmu.2023.1094862. eCollection 2023. Front Immunol. 2023. PMID: 36776892 Free PMC article.
Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.
Schönauer R, Baatz S, Nemitz-Kliemchen M, Frank V, Petzold F, Sewerin S, Popp B, Münch J, Neuber S, Bergmann C, Halbritter J. Schönauer R, et al. Among authors: petzold f. Genet Med. 2020 Aug;22(8):1374-1383. doi: 10.1038/s41436-020-0816-3. Epub 2020 May 13. Genet Med. 2020. PMID: 32398770 Free PMC article.
17 results