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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: ripperger t. 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.
Supplemental Human Genetics Point of View.
Ripperger T, Illig T, Schlegelberger B. Ripperger T, et al. Dtsch Arztebl Int. 2019 Apr 5;116(14):251. doi: 10.3238/arztebl.2019.0251a. Dtsch Arztebl Int. 2019. PMID: 31092313 Free PMC article. No abstract available.
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy.
Suerink M, Ripperger T, Messiaen L, Menko FH, Bourdeaut F, Colas C, Jongmans M, Goldberg Y, Nielsen M, Muleris M, van Kouwen M, Slavc I, Kratz C, Vasen HF, Brugiѐres L, Legius E, Wimmer K. Suerink M, et al. Among authors: ripperger t. J Med Genet. 2019 Feb;56(2):53-62. doi: 10.1136/jmedgenet-2018-105664. Epub 2018 Nov 10. J Med Genet. 2019. PMID: 30415209 Review.
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Gallon R, Mühlegger B, Wenzel SS, Sheth H, Hayes C, Aretz S, Dahan K, Foulkes W, Kratz CP, Ripperger T, Azizi AA, Baris Feldman H, Chong AL, Demirsoy U, Florkin B, Imschweiler T, Januszkiewicz-Lewandowska D, Lobitz S, Nathrath M, Pander HJ, Perez-Alonso V, Perne C, Ragab I, Rosenbaum T, Rueda D, Seidel MG, Suerink M, Taeubner J, Zimmermann SY, Zschocke J, Borthwick GM, Burn J, Jackson MS, Santibanez-Koref M, Wimmer K. Gallon R, et al. Among authors: ripperger t. Hum Mutat. 2019 May;40(5):649-655. doi: 10.1002/humu.23721. Epub 2019 Mar 6. Hum Mutat. 2019. PMID: 30740824 Free PMC article.
77 results