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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: wimmer k. 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
Constitutional mismatch repair-deficiency syndrome.
Wimmer K, Kratz CP. Wimmer K, et al. Haematologica. 2010 May;95(5):699-701. doi: 10.3324/haematol.2009.021626. Haematologica. 2010. PMID: 20442441 Free PMC article. No abstract available.
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.
Baas AF, Gabbett M, Rimac M, Kansikas M, Raphael M, Nievelstein RA, Nicholls W, Offerhaus J, Bodmer D, Wernstedt A, Krabichler B, Strasser U, Nyström M, Zschocke J, Robertson SP, van Haelst MM, Wimmer K. Baas AF, et al. Among authors: wimmer k. Eur J Hum Genet. 2013 Jan;21(1):55-61. doi: 10.1038/ejhg.2012.117. Epub 2012 Jun 13. Eur J Hum Genet. 2013. PMID: 22692065 Free PMC article.
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. 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.
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
Li L, Hamel N, Baker K, McGuffin MJ, Couillard M, Gologan A, Marcus VA, Chodirker B, Chudley A, Stefanovici C, Durandy A, Hegele RA, Feng BJ, Goldgar DE, Zhu J, De Rosa M, Gruber SB, Wimmer K, Young B, Chong G, Tischkowitz MD, Foulkes WD. Li L, et al. Among authors: wimmer k. J Med Genet. 2015 May;52(5):348-52. doi: 10.1136/jmedgenet-2014-102934. Epub 2015 Feb 17. J Med Genet. 2015. PMID: 25691505
Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.
Bodo S, Colas C, Buhard O, Collura A, Tinat J, Lavoine N, Guilloux A, Chalastanis A, Lafitte P, Coulet F, Buisine MP, Ilencikova D, Ruiz-Ponte C, Kinzel M, Grandjouan S, Brems H, Lejeune S, Blanché H, Wang Q, Caron O, Cabaret O, Svrcek M, Vidaud D, Parfait B, Verloes A, Knappe UJ, Soubrier F, Mortemousque I, Leis A, Auclair-Perrossier J, Frébourg T, Fléjou JF, Entz-Werle N, Leclerc J, Malka D, Cohen-Haguenauer O, Goldberg Y, Gerdes AM, Fedhila F, Mathieu-Dramard M, Hamelin R, Wafaa B, Gauthier-Villars M, Bourdeaut F, Sheridan E, Vasen H, Brugières L, Wimmer K, Muleris M, Duval A; European Consortium “Care for CMMRD”. Bodo S, et al. Among authors: wimmer k. Gastroenterology. 2015 Oct;149(4):1017-29.e3. doi: 10.1053/j.gastro.2015.06.013. Epub 2015 Jun 25. Gastroenterology. 2015. PMID: 26116798 Free article.
Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.
Baris HN, Barnes-Kedar I, Toledano H, Halpern M, Hershkovitz D, Lossos A, Lerer I, Peretz T, Kariv R, Cohen S, Half EE, Magal N, Drasinover V, Wimmer K, Goldberg Y, Bercovich D, Levi Z. Baris HN, et al. Among authors: wimmer k. Pediatr Blood Cancer. 2016 Mar;63(3):418-27. doi: 10.1002/pbc.25818. Epub 2015 Nov 6. Pediatr Blood Cancer. 2016. PMID: 26544533
194 results