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Page 1
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gallon R, Phelps R, Hayes C, Brugieres L, Guerrini-Rousseau L, Colas C, Muleris M, Ryan NAJ, Evans DG, Grice H, Jessop E, Kunzemann-Martinez A, Marshall L, Schamschula E, Oberhuber K, Azizi AA, Baris Feldman H, Beilken A, Brauer N, Brozou T, Dahan K, Demirsoy U, Florkin B, Foulkes W, Januszkiewicz-Lewandowska D, Jones KJ, Kratz CP, Lobitz S, Meade J, Nathrath M, Pander HJ, Perne C, Ragab I, Ripperger T, Rosenbaum T, Rueda D, Sarosiek T, Sehested A, Spier I, Suerink M, Zimmermann SY, Zschocke J, Borthwick GM, Wimmer K, Burn J, Jackson MS, Santibanez-Koref M. Gallon R, et al. Among authors: oberhuber k. Gastroenterology. 2023 Apr;164(4):579-592.e8. doi: 10.1053/j.gastro.2022.12.017. Epub 2022 Dec 29. Gastroenterology. 2023. PMID: 36586540 Free article.
Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.
Schamschula E, Kinzel M, Wernstedt A, Oberhuber K, Gottschling H, Schnaiter S, Friedrichs N, Merkelbach-Bruse S, Zschocke J, Gallon R, Wimmer K. Schamschula E, et al. Among authors: oberhuber k. Biomolecules. 2022 Sep 22;12(10):1350. doi: 10.3390/biom12101350. Biomolecules. 2022. PMID: 36291559 Free PMC article.
Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma.
Locher M, Jukic E, Vogi V, Keller MA, Kröll T, Schwendinger S, Oberhuber K, Verdorfer I, Mühlegger BE, Witsch-Baumgartner M, Nachbaur D, Willenbacher W, Gunsilius E, Wolf D, Zschocke J, Steiner N. Locher M, et al. Among authors: oberhuber k. Eur J Haematol. 2023 Mar;110(3):296-304. doi: 10.1111/ejh.13905. Epub 2022 Dec 4. Eur J Haematol. 2023. PMID: 36433728 Free PMC article.
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1.
Perez-Valencia JA, Gallon R, Chen Y, Koch J, Keller M, Oberhuber K, Gomes A, Zschocke J, Burn J, Jackson MS, Santibanez-Koref M, Messiaen L, Wimmer K. Perez-Valencia JA, et al. Among authors: oberhuber k. Genet Med. 2020 Dec;22(12):2081-2088. doi: 10.1038/s41436-020-0925-z. Epub 2020 Aug 10. Genet Med. 2020. PMID: 32773772 Free PMC article.