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Splicing analysis of 24 potential spliceogenic variants in MMR genes and clinical interpretation based on refined ACMG/AMP criteria.
Hum Mol Genet. 2024 May 4;33(10):850-859. doi: 10.1093/hmg/ddae016.
Hum Mol Genet. 2024.
PMID: 38311346
Different Genetic Signatures of Small-Cell Lung Cancer Characterize Anti-GABAB R and Anti-Hu Paraneoplastic Neurological Syndromes.
Vogrig A, Pegat A, Villagrán-García M, Wucher V, Attignon V, Sohier E, Brevet M, Rogemond V, Pinto AL, Muñiz-Castrillo S, Peter E, Robert M, Picard G, Hopes L, Psimaras D, Terra A, Perrin C, Cogne D, Tabone-Eglinger S, Martinez S, Jury D, Valantin J, Gadot N, Auclair-Perrossier J, Viari A, Dubois B, Desestret V, Honnorat J.
Vogrig A, et al. Among authors: auclair perrossier j.
Ann Neurol. 2023 Dec;94(6):1102-1115. doi: 10.1002/ana.26784. Epub 2023 Sep 18.
Ann Neurol. 2023.
PMID: 37638563
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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: auclair perrossier j.
Gastroenterology. 2015 Oct;149(4):1017-29.e3. doi: 10.1053/j.gastro.2015.06.013. Epub 2015 Jun 25.
Gastroenterology. 2015.
PMID: 26116798
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