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Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2.
Frommherz L, Komlosi K, Hewel C, Kopp J, Dewenter M, Zimmer A, Bartsch O, Linke M, Technau-Hafsi K, Gerber S, Fischer J, Has C. Frommherz L, et al. Among authors: bartsch o. J Eur Acad Dermatol Venereol. 2023 Apr;37(4):817-822. doi: 10.1111/jdv.18719. Epub 2022 Nov 17. J Eur Acad Dermatol Venereol. 2023. PMID: 36331357
FGFR1 variants contributed to families with tooth agenesis.
Yao S, Zhou X, Gu M, Zhang C, Bartsch O, Vona B, Fan L, Ma L, Pan Y. Yao S, et al. Among authors: bartsch o. Hum Genomics. 2023 Oct 13;17(1):93. doi: 10.1186/s40246-023-00539-8. Hum Genomics. 2023. PMID: 37833774 Free PMC article.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC. Lacombe D, et al. Among authors: bartsch o. J Med Genet. 2024 Mar 26:jmg-2023-109438. doi: 10.1136/jmg-2023-109438. Online ahead of print. J Med Genet. 2024. PMID: 38471765 Review.
Case Report: Targeting of individual somatic tumor mutations by multipeptide vaccination tailored for HLA class I and II presentation induces strong CD4 and CD8 T-cell responses in a patient with metastatic castration sensitive prostate cancer.
Zelba H, Rabsteyn A, Bartsch O, Kyzirakos C, Kayser S, Seibold M, Harter J, Latzer P, Hadaschik D, Battke F, Golf A, Rettig MB, Biskup S. Zelba H, et al. Among authors: bartsch o. Front Immunol. 2023 Oct 18;14:1271449. doi: 10.3389/fimmu.2023.1271449. eCollection 2023. Front Immunol. 2023. PMID: 37920460 Free PMC article.
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.
Gerber CB, Fliedner A, Bartsch O, Berland S, Dewenter M, Haug M, Hayes I, Marin-Reina P, Mark PR, Martinez-Castellano F, Maystadt I, Karadurmus D, Steindl K, Wiesener A, Zweier M, Sticht H, Zweier C. Gerber CB, et al. Among authors: bartsch o. Clin Genet. 2022 Sep;102(3):182-190. doi: 10.1111/cge.14173. Epub 2022 Jun 14. Clin Genet. 2022. PMID: 35662002 Free PMC article.
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience.
Douzgou S, Dell'Oro J, Fonseca CR, Rei A, Mullins J, Jusiewicz I, Huisman S, Simpson BN, Vyshka K, Milani D, Bartsch O, Lacombe D, García-Miñaúr S, Hennekam RCM. Douzgou S, et al. Among authors: bartsch o. Eur J Hum Genet. 2022 Jul;30(7):841-847. doi: 10.1038/s41431-022-01097-8. Epub 2022 Apr 6. Eur J Hum Genet. 2022. PMID: 35388185 Free PMC article.
Use of plasma ctDNA as a potential biomarker for longitudinal monitoring of a patient with metastatic high-risk upper tract urothelial carcinoma receiving pembrolizumab and personalized neoepitope-derived multipeptide vaccinations: a case report.
Blumendeller C, Boehme J, Frick M, Schulze M, Rinckleb A, Kyzirakos C, Kayser S, Kopp M, Kelkenberg S, Pieper N, Bartsch O, Hadaschick D, Battke F, Stenzl A, Biskup S. Blumendeller C, et al. Among authors: bartsch o. J Immunother Cancer. 2021 Jan;9(1):e001406. doi: 10.1136/jitc-2020-001406. J Immunother Cancer. 2021. PMID: 33431630 Free PMC article.
178 results