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2020 | 1 |
2021 | 1 |
2022 | 2 |
2024 | 0 |
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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.
Biomolecules. 2022 Sep 22;12(10):1350. doi: 10.3390/biom12101350.
Biomolecules. 2022.
PMID: 36291559
Free PMC article.
Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.
Sehested A, Meade J, Scheie D, Østrup O, Bertelsen B, Misiakou MA, Sarosiek T, Kessler E, Melchior LC, Munch-Petersen HF, Pai RK, Schmuth M, Gottschling H, Zschocke J, Gallon R, Wimmer K.
Sehested A, et al.
Hum Mutat. 2022 Jan;43(1):85-96. doi: 10.1002/humu.24299. Epub 2021 Dec 2.
Hum Mutat. 2022.
PMID: 34816535
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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.
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.
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