Not logged inGlioma oncogenesis in the Constitutional mismatch repair deficiency (CMMRD) syndrome
Guerrini-Rousseau, Lea; Merlevede, Jane; Denizeau, Philippe; Andreiuolo, Felipe; Varlet, Pascale; Puget, Stephanie; Beccaria, Kevin; Blauwblomme, Thomas; Cabaret, Odile; Hamzaoui, Nadim; Bourdeaut, Franck; Faure-Conter, Cecile; Muleris, Martine; Colas, Chrystelle; de Beaumais, Tiphaine Adam; Castel, David; Rouleau, Etienne; Brugieres, Laurence; Grill, Jacques; Debily, Marie-Anne .png)
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SaveCase report: Microsatellite instability determination is not always black and white in Lynch syndrome diagnosisRodriguez, Julieta E.; Vasseur, Damien; Bani, Mohamed Amine; Cabaret, Odile; Cotteret, Sophie; Muleris, Martine; Golbarg, Veronica; Malka, David; Pudlarz, Thomas; Caron, Olivier; Smolenschi, Cristina Share Save Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variantsGallon, Richard; Brekelmans, Carlijn; Martin, Marie; Bours, Vincent; Schamschula, Esther; Amberger, Albert; Muleris, Martine; Colas, Chrystelle; Dekervel, Jeroen; De Hertogh, Gert; Coupier, Jerome; Colleye, Orphal; Sepulchre, Edith; Burn, John; Brems, Hilde; Legius, Eric; Wimmer, Katharina Share Save Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiencyGuerrini-Rousseau, Lea; Pasmant, Eric; Muleris, Martine; Abbou, Samuel; Adam-De-Beaumais, Tiphaine; Brugieres, Laurence; Cabaret, Odile; Colas, Chrystelle; Cotteret, Sophie; Decq, Philippe; Dufour, Christelle; Guillerm, Erell; Rouleau, Etienne; Varlet, Pascale; Zili, Saima; Vidaud, Dominique; Grill, Jacques Share Save Lynch syndrome: influence of additional susceptibility variants on cancer riskVibert, Roseline; Hasnaoui, Jasmine; Perrier, Alexandre; Lefebvre, Alexandra; Colas, Chrystelle; Dhooge, Marion; Basset, Noemie; Chansavang, Albain; Desseignes, Camille; Duval, Alex; Farelly, Solenne; Hamzaoui, Nadim; Laurent-Puig, Pierre; Metras, Julie; Moliere, Diane; Muleris, Martine; Netter, Jeanne; Touat, Mehdi; Bielle, Franck; Labreche, Karim; Nicolle, Romain; Perkins, Geraldine; Warcoin, Mathilde; Coulet, Florence; Benusiglio, Patrick R. Share Save Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair DeficiencyGallon, Richard; Phelps, Rachel; Hayes, Christine; Brugieres, Laurence; Guerrini-Rousseau, Lea; Colas, Chrystelle; Muleris, Martine; Ryan, Neil A. J.; Evans, D. Gareth; Grice, Hannah; Jessop, Emily; Kunzemann-Martinez, Annabel; Marshall, Lilla; Schamschula, Esther; Oberhuber, Klaus; Azizi, Amedeo A.; Feldman, Hagit Baris; Beilken, Andreas; Brauer, Nina; Brozou, Triantafyllia; Dahan, Karin; Demirsoy, Ugur; Florkin, Benoit; Foulkes, William; Januszkiewicz-Lewandowska, Danuta; Jones, Kristi J.; Kratz, Christian P.; Lobitz, Stephan; Meade, Julia; Nathrath, Michaela; Pander, Hans-Jurgen; Perne, Claudia; Ragab, Iman; Ripperger, Tim; Rosenbaum, Thorsten; Rueda, Daniel; Sarosiek, Tomasz; Sehested, Astrid; Spier, Isabel; Suerink, Manon; Zimmermann, Stefanie-Yvonne; Zschocke, Johannes; Borthwick, Gillian M.; Wimmer, Katharina; Burn, John; Jackson, Michael S.; Santibanez-Koref, Mauro Share Save Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterationsMeulemans, Laetitia; Desurmont, Stephanie Baert; Waill, Marie-Christine; Castelain, Gaia; Killian, Audrey; Hauchard, Julie; Frebourg, Thierry; Coulet, Florence; Martins, Alexandra; Muleris, Martine; Gaildrat, Pascaline Share Save Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working groupAronson, Melyssa; Colas, Chrystelle; Shuen, Andrew; Hampel, Heather; Foulkes, William D.; Baris Feldman, Hagit; Goldberg, Yael; Muleris, Martine; Wolfe Schneider, Kami; McGee, Rose B.; Jasperson, Kory; Rangaswami, Arun; Brugieres, Laurence; Tabori, Uri Share Save Share Save Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancySuerink, Manon; Ripperger, Tim; Messiaen, Ludwine; Menko, Fred H.; Bourdeaut, Franck; Colas, Chrystelle; Jongmans, Marjolijn; Goldberg, Yael; Nielsen, Maartje; Muleris, Martine; van Kouwen, Mariette; Slavc, Irene; Kratz, Christian; Vasen, Hans F.; Brugieres, Laurence; Legius, Eric; Wimmer, Katharina Share Save Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6Taeubner, Julia; Wimmer, Katharina; Muleris, Martine; Lascols, Olivier; Colas, Chrystelle; Fauth, Christine; Brozou, Triantafyllia; Felsberg, Joerg; Riemer, Jasmin; Gombert, Michael; Ginzel, Sebastian; Hoell, Jessica I.; Borkhardt, Arndt; Kuhlen, Michaela Share Save HSP110 T17 simplifies and improves the microsatellite instability testing in patients with colorectal cancerBuhard, Olivier; Lagrange, Anais; Guilloux, Agathe; Colas, Chrystelle; Chouchene, Mouna; Wanherdrick, Kristell; Coulet, Florence; Guillerm, Erell; Dorard, Coralie; Marisa, Laetitia; Bokhari, Adem; Greene, Malorie; El-Murr, Nizar; Bodo, Sahra; Muleris, Martine; Sourouille, Isabelle; Svrcek, Magali; Cervera, Pascale; Blanche, Helene; Lefevre, Jeremie H.; Parc, Yann; Lepage, Come; Chapusot, Caroline; Bouvier, Anne-Marie; Gaub, Marie-Pierre; Selves, Janick; Garrett, Kerryn; Iacopetta, Barry; Soong, Richie; Hamelin, Richard; Garrido, Carmen; Lascols, Olivier; Andre, Thierry; Flejou, Jean-Francois; Collura, Ada; Duval, Alex Share Save Azathioprine May Not be Associated With Development of Colorectal Tumors With Microsatellite Instability in Patients With Inflammatory Bowel DiseaseSvrcek, Magali; Beaugerie, Laurent; Kirchgesner, Julien; Dumont, Sylvie; Muleris, Martine; Bodo, Sahra; Dartigues, Peggy; Lascols, Olivier; Seksik, Philippe; Cosnes, Jacques; Flejou, Jean-Francois; Duval, Alex Share Save Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating AgentsBodo, Sahra; Colas, Chrystelle; Buhard, Olivier; Collura, Ada; Tinat, Julie; Lavoine, Noernie; Guilloux, Agathe; Chalastanis, Alexandra; Lafitte, Philippe; Coulet, Florence; Buisine, Marie-Pierre; Ilencikova, Denisa; Ruiz-Ponte, Clara; Kinzel, Miriam; Grandjouan, Sophie; Brems, Hi Ide; Lejeune, Sophie; Blanche, Helene; Wang, Qing; Caron, Olivier; Cabaret, Odile; Syrcek, Maga Li; Vidaud, Dominique; Parfait, Beatrice; Verloes, Alain; Knappe, Ulrich J.; Soubrier, Florent; Mortemousque, Isabelle; Leis, Alexander; Auclair-Perrossier, Jessie; Frebourg, Thierry; Flejou, Jean-Francois; Entz-Werle, Natacha; Leclerc, Julie; Malka, David; Cohen-Haguenauer, Odile; Goldberg, Yael; Gerdes, Anne-Marie; Fedhila, Faten; Mathieu-Dramard, Michele; Lin, Richard Hame; Wafaa, Badre; Gauthier-Villars, Marion; Bourdeaut, Franck; Sheridan, Eamonn; Vasen, Hans; Brugieres, Laurence; Wimmer, Katharina; Muleris, Martine; Duva, Alex Share Save Constitutional mismatch repair deficiency syndrome: clinical description in a French cohortLavoine, N.; Colas, C.; Muleris, M.; Bodo, S.; Duval, A.; Entz-Werle, N.; Coulet, F.; Cabaret, O.; Andreiuolo, F.; Charpy, C.; Sebille, G.; Wang, Q.; Lejeune, S.; Buisine, M. P.; Leroux, D.; Couillault, G.; Leverger, G.; Fricker, J. P.; Guimbaud, R.; Mathieu-Dramard, M.; Jedraszak, G.; Cohen-Hagenauer, O.; Guerrini-Rousseau, L.; Bourdeaut, F.; Grill, J.; Caron, O.; Baert-Dusermont, S.; Tinat, J.; Bougeard, G.; Frebourg, T.; Brugieres, L. Share Save Share Save Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'Care for CMMRD' (C4CMMRD)Wimmer, Katharina; Kratz, Christian P.; Vasen, Hans F. A.; Caron, Olivier; Colas, Chrystelle; Entz-Werle, Natacha; Gerdes, Anne-Marie; Goldberg, Yael; Ilencikova, Denisa; Muleris, Martine; Duval, Alex; Lavoine, Noemie; Ruiz-Ponte, Clara; Slavc, Irene; Burkhardt, Brigit; Brugieres, Laurence Share Save Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium Care for CMMR-D (C4CMMR-D)Vasen, H. F. A.; Ghorbanoghli, Z.; Bourdeaut, F.; Cabaret, O.; Caron, O.; Duval, A.; Entz-Werle, N.; Goldberg, Y.; Ilencikova, D.; Kratz, C. P.; Lavoine, N.; Loeffen, J.; Menko, F. H.; Muleris, M.; Sebille, G.; Colas, C.; Burkhardt, B.; Brugieres, L.; Wimmer, K. Share Save Extensive characterization of sphere models established from colorectal cancer cell linesCollura, Ada; Marisa, Laetitia; Trojan, Diletta; Buhard, Olivier; Lagrange, Anais; Saget, Arnaud; Bombled, Marianne; Mechighel, Patricia; Ayadi, Mira; Muleris, Martine; de Reynies, Aurelien; Svrcek, Magali; Flejou, Jean-Francois; Florent, Jean-Claude; Mahuteau-Betzer, Florence; Faussat, Anne-Marie; Duval, Alex Share Save The mechanisms underlying MMR deficiency in immunodeficiency-related non-Hodgkin lymphomas are different from those in other sporadic microsatellite instable neoplasmsBorie, Claire; Colas, Chrystelle; Dartigues, Peggy; Lazure, Thierry; Rince, Patricia; Buhard, Olivier; Folliot, Patrick; Chalastanis, Alexandra; Muleris, Martine; Hamelin, Richard; Mercier, Dominique; Oliveira, Carla; Seruca, Raquel; Chadburn, Amy; Leblond, Veronique; Barete, Stephane; Gaidano, Gianluca; Martin, Antoine; Gaulard, Philippe; Flejoul, Jean-Francois; Raphael, Martine; Duval, Alex Share Save 
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