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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: kratz cp. 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.
Constitutional mismatch repair-deficiency syndrome.
Wimmer K, Kratz CP. Wimmer K, et al. Among authors: kratz cp. Haematologica. 2010 May;95(5):699-701. doi: 10.3324/haematol.2009.021626. Haematologica. 2010. PMID: 20442441 Free PMC article. No abstract available.
Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium "Care for CMMR-D" (C4CMMR-D).
Vasen HF, Ghorbanoghli Z, Bourdeaut F, Cabaret O, Caron O, Duval A, Entz-Werle N, Goldberg Y, Ilencikova D, Kratz CP, Lavoine N, Loeffen J, Menko FH, Muleris M, Sebille G, Colas C, Burkhardt B, Brugieres L, Wimmer K; EU-Consortium Care for CMMR-D (C4CMMR-D). Vasen HF, et al. Among authors: kratz cp. J Med Genet. 2014 May;51(5):283-93. doi: 10.1136/jmedgenet-2013-102238. Epub 2014 Feb 20. J Med Genet. 2014. PMID: 24556086
Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).
Wimmer K, Kratz CP, Vasen HF, Caron O, Colas C, Entz-Werle N, Gerdes AM, Goldberg Y, Ilencikova D, Muleris M, Duval A, Lavoine N, Ruiz-Ponte C, Slavc I, Burkhardt B, Brugieres L; EU-Consortium Care for CMMRD (C4CMMRD). Wimmer K, et al. Among authors: kratz cp. J Med Genet. 2014 Jun;51(6):355-65. doi: 10.1136/jmedgenet-2014-102284. Epub 2014 Apr 15. J Med Genet. 2014. PMID: 24737826 Review.
240 results