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Page 1
CDHR1 mutations in retinal dystrophies.
Stingl K, Mayer AK, Llavona P, Mulahasanovic L, Rudolph G, Jacobson SG, Zrenner E, Kohl S, Wissinger B, Weisschuh N. Stingl K, et al. Among authors: llavona p. Sci Rep. 2017 Aug 1;7(1):6992. doi: 10.1038/s41598-017-07117-8. Sci Rep. 2017. PMID: 28765526 Free PMC article.
A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect.
Kohl S, Llavona P, Sauer A, Reuter P, Weisschuh N, Kempf M, Dehmelt FA, Arrenberg AB, Sliesoraityte I, Zrenner E, van Schooneveld MJ, Rudolph G, Kühlewein L, Wissinger B. Kohl S, et al. Among authors: llavona p. Hum Mol Genet. 2021 Jun 17;30(13):1218-1229. doi: 10.1093/hmg/ddab117. Hum Mol Genet. 2021. PMID: 33891002 Free PMC article.
Multimodal assessment of choroideremia patients defines pre-treatment characteristics.
Seitz IP, Zhour A, Kohl S, Llavona P, Peter T, Wilhelm B, Zrenner E, Ueffing M, Bartz-Schmidt KU, Fischer MD. Seitz IP, et al. Among authors: llavona p. Graefes Arch Clin Exp Ophthalmol. 2015 Dec;253(12):2143-50. doi: 10.1007/s00417-015-2976-4. Epub 2015 Mar 7. Graefes Arch Clin Exp Ophthalmol. 2015. PMID: 25744334
Distinct and targetable role of calcium-sensing receptor in leukaemia.
Pereira RS, Kumar R, Cais A, Paulini L, Kahler A, Bravo J, Minciacchi VR, Krack T, Kowarz E, Zanetti C, Godavarthy PS, Hoeller F, Llavona P, Stark T, Tascher G, Nowak D, Meduri E, Huntly BJP, Münch C, Pampaloni F, Marschalek R, Krause DS. Pereira RS, et al. Among authors: llavona p. Nat Commun. 2023 Oct 6;14(1):6242. doi: 10.1038/s41467-023-41770-0. Nat Commun. 2023. PMID: 37802982 Free PMC article.
The transcriptional regulator FUBP1 influences disease outcome in murine and human myeloid leukemia.
Hoang VT, Verma D, Godavarthy PS, Llavona P, Steiner M, Gerlach K, Michels BE, Bohnenberger H, Wachter A, Oellerich T, Müller-Kuller U, Weissenberger E, Voutsinas JM, Oehler VG, Farin HF, Zörnig M, Krause DS. Hoang VT, et al. Among authors: llavona p. Leukemia. 2019 Jul;33(7):1700-1712. doi: 10.1038/s41375-018-0358-8. Epub 2019 Jan 11. Leukemia. 2019. PMID: 30635626