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Characterization of Genetic Heterogeneity in Recurrent Metastases of Renal Cell Carcinoma.
Sauter-Meyerhoff C, Bohnert R, Mazzola P, Stühler V, Kandabarau S, Büttner FA, Winter S, Herrmann L, Rausch S, Hennenlotter J, Fend F, Scharpf M, Stenzl A, Ossowski S, Bedke J, Schwab M, Schaeffeler E. Sauter-Meyerhoff C, et al. Among authors: mazzola p. Cancers (Basel). 2021 Dec 10;13(24):6221. doi: 10.3390/cancers13246221. Cancers (Basel). 2021. PMID: 34944839 Free PMC article.
No association of genetic variants in TLR4, TNF-α, IL10, IFN-γ, and IL37 in cytomegalovirus-positive renal allograft recipients with active CMV infection-Subanalysis of the prospective randomised VIPP study.
Mazzola P, Schaeffeler E, Witzke O, Nitschke M, Kliem V, Zortel M, Wagner EM, Schwab M, Hauser IA. Mazzola P, et al. PLoS One. 2021 Apr 16;16(4):e0246118. doi: 10.1371/journal.pone.0246118. eCollection 2021. PLoS One. 2021. PMID: 33861738 Free PMC article. Clinical Trial.
Hepatic Expression of the Na+-Taurocholate Cotransporting Polypeptide Is Independent from Genetic Variation.
Tremmel R, Nies AT, van Eijck BAC, Handin N, Haag M, Winter S, Büttner FA, Kölz C, Klein F, Mazzola P, Hofmann U, Klein K, Hoffmann P, Nöthen MM, Gaugaz FZ, Artursson P, Schwab M, Schaeffeler E. Tremmel R, et al. Among authors: mazzola p. Int J Mol Sci. 2022 Jul 5;23(13):7468. doi: 10.3390/ijms23137468. Int J Mol Sci. 2022. PMID: 35806468 Free PMC article.
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.
Weisschuh N, Mazzola P, Zuleger T, Schaeferhoff K, Kühlewein L, Kortüm F, Witt D, Liebmann A, Falb R, Pohl L, Reith M, Stühn LG, Bertrand M, Müller A, Casadei N, Kelemen O, Kelbsch C, Kernstock C, Richter P, Sadler F, Demidov G, Schütz L, Admard J, Sturm M, Grasshoff U, Tonagel F, Heinrich T, Nasser F, Wissinger B, Ossowski S, Kohl S, Riess O, Stingl K, Haack TB. Weisschuh N, et al. Among authors: mazzola p. J Med Genet. 2024 Jan 19;61(2):186-195. doi: 10.1136/jmg-2023-109470. J Med Genet. 2024. PMID: 37734845 Free PMC article.
Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.
Kuehlewein L, Zobor D, Stingl K, Kempf M, Nasser F, Bernd A, Biskup S, Cremers FPM, Khan MI, Mazzola P, Schäferhoff K, Heinrich T, Haack TB, Wissinger B, Zrenner E, Weisschuh N, Kohl S. Kuehlewein L, et al. Among authors: mazzola p. Int J Mol Sci. 2021 Feb 27;22(5):2374. doi: 10.3390/ijms22052374. Int J Mol Sci. 2021. PMID: 33673512 Free PMC article.
DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy.
Kieninger S, Xiao T, Weisschuh N, Kohl S, Rüther K, Kroisel PM, Brockmann T, Knappe S, Kellner U, Lagrèze W, Mazzola P, Haack TB, Wissinger B, Tonagel F. Kieninger S, et al. Among authors: mazzola p. J Med Genet. 2022 Oct;59(10):1027-1034. doi: 10.1136/jmedgenet-2021-108235. Epub 2022 Jan 28. J Med Genet. 2022. PMID: 35091433 Free PMC article.
228 results