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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: brems h. 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.
Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.
Magallón-Lorenz M, Terribas E, Ortega-Bertran S, Creus-Bachiller E, Fernández M, Requena G, Rosas I, Mazuelas H, Uriarte-Arrazola I, Negro A, Lausová T, Castellanos E, Blanco I, DeVries G, Kawashima H, Legius E, Brems H, Mautner V, Kluwe L, Ratner N, Wallace M, Fernández-Rodriguez J, Lázaro C, Fletcher JA, Reuss D, Carrió M, Gel B, Serra E. Magallón-Lorenz M, et al. Among authors: brems h. iScience. 2023 Jan 31;26(2):106096. doi: 10.1016/j.isci.2023.106096. eCollection 2023 Feb 17. iScience. 2023. PMID: 36818284 Free PMC article.
Review and update of SPRED1 mutations causing Legius syndrome.
Brems H, Pasmant E, Van Minkelen R, Wimmer K, Upadhyaya M, Legius E, Messiaen L. Brems H, et al. Hum Mutat. 2012 Nov;33(11):1538-46. doi: 10.1002/humu.22152. Epub 2012 Aug 1. Hum Mutat. 2012. PMID: 22753041 Review.
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants.
Gallon R, Brekelmans C, Martin M, Bours V, Schamschula E, Amberger A, Muleris M, Colas C, Dekervel J, De Hertogh G, Coupier J, Colleye O, Sepulchre E, Burn J, Brems H, Legius E, Wimmer K. Gallon R, et al. Among authors: brems h. NPJ Precis Oncol. 2024 May 24;8(1):119. doi: 10.1038/s41698-024-00603-z. NPJ Precis Oncol. 2024. PMID: 38789506 Free PMC article.
Elevated risk for MPNST in NF1 microdeletion patients.
De Raedt T, Brems H, Wolkenstein P, Vidaud D, Pilotti S, Perrone F, Mautner V, Frahm S, Sciot R, Legius E. De Raedt T, et al. Among authors: brems h. Am J Hum Genet. 2003 May;72(5):1288-92. doi: 10.1086/374821. Epub 2003 Mar 26. Am J Hum Genet. 2003. PMID: 12660952 Free PMC article.
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