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Report of the fifth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Leiden, The Netherlands, July 6th 2019.
Suerink M, Wimmer K, Brugieres L, Colas C, Gallon R, Ripperger T, Benusiglio PR, Bleiker EMA, Ghorbanoghli Z, Goldberg Y, Hardwick JCH, Kloor M, le Mentec M, Muleris M, Pineda M, Ruiz-Ponte C, Vasen HFA. Suerink M, et al. Among authors: ripperger t. Fam Cancer. 2021 Jan;20(1):67-73. doi: 10.1007/s10689-020-00194-1. Epub 2020 Jul 2. Fam Cancer. 2021. PMID: 32613597 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.
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.
Suerink M, Rodríguez-Girondo M, van der Klift HM, Colas C, Brugieres L, Lavoine N, Jongmans M, Munar GC, Evans DG, Farrell MP, Genuardi M, Goldberg Y, Gomez-Garcia E, Heinimann K, Hoell JI, Aretz S, Jasperson KW, Kedar I, Modi MB, Nikolaev S, van Os TAM, Ripperger T, Rueda D, Senter L, Sjursen W, Sunde L, Therkildsen C, Tibiletti MG, Trainer AH, Vos YJ, Wagner A, Winship I, Wimmer K, Zimmermann SY, Vasen HF, van Asperen CJ, Houwing-Duistermaat JJ, Ten Broeke SW, Nielsen M. Suerink M, et al. Among authors: ripperger t. Genet Med. 2019 Dec;21(12):2706-2712. doi: 10.1038/s41436-019-0577-z. Epub 2019 Jun 17. Genet Med. 2019. PMID: 31204389 Free article.
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
González-Acosta M, Marín F, Puliafito B, Bonifaci N, Fernández A, Navarro M, Salvador H, Balaguer F, Iglesias S, Velasco A, Grau Garces E, Moreno V, Gonzalez-Granado LI, Guerra-García P, Ayala R, Florkin B, Kratz C, Ripperger T, Rosenbaum T, Januszkiewicz-Lewandowska D, Azizi AA, Ragab I, Nathrath M, Pander HJ, Lobitz S, Suerink M, Dahan K, Imschweiler T, Demirsoy U, Brunet J, Lázaro C, Rueda D, Wimmer K, Capellá G, Pineda M. González-Acosta M, et al. Among authors: ripperger t. J Med Genet. 2020 Apr;57(4):269-273. doi: 10.1136/jmedgenet-2019-106272. Epub 2019 Sep 7. J Med Genet. 2020. PMID: 31494577 Free PMC article.
80 results