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Page 1
ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management.
Colas C, Guerrini-Rousseau L, Suerink M, Gallon R, Kratz CP, Ayuso É; ERN GENTURIS CMMRD Guideline Group; Brugières L, Wimmer K. Colas C, et al. Among authors: guerrini rousseau l. Eur J Hum Genet. 2024 Oct 17. doi: 10.1038/s41431-024-01708-6. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39420201 Review.
Li-Fraumeni-associated osteosarcomas: The French experience.
Saucier E, Bougeard G, Gomez-Mascard A, Schramm C, Abbas R, Berlanga P, Briandet C, Castex MP, Corradini N, Coze C, Guerrini-Rousseau L, Guinebretière JM, Khneisser P, Lervat C, Mansuy L, Marec-Berard P, Marie-Cardine A, Mascard E, Saumet L, Tabone MD, Winter S, Frebourg T, Gaspar N, Brugieres L. Saucier E, et al. Among authors: guerrini rousseau l. Pediatr Blood Cancer. 2024 Dec;71(12):e31362. doi: 10.1002/pbc.31362. Epub 2024 Oct 10. Pediatr Blood Cancer. 2024. PMID: 39387369
Comprehensive analysis of constitutional mismatch repair deficiency-associated non-Hodgkin lymphomas in a global cohort.
Rigaud C, Forster VJ, Al-Tarrah H, Attarbaschi A, Bianchi V, Burke A, Burkhardt B, Colas C, Devalck C, Edwards M, Elitzur S, Garthe AK, Goldberg Y, Guerrini-Rousseau L, Horpaopan S, Januszkiewicz-Lewandowska D, Kabíčková E, Kratz CP, Loeffen J, Pérez-Alonso V, Pineda M, Minard-Colin V, Rueda D, Ruiz-Ponte C, Trinquand A, Uyttebroeck A, Wimmer K, Auperin A, Tabori U, Brugieres L. Rigaud C, et al. Among authors: guerrini rousseau l. Pediatr Blood Cancer. 2024 Dec;71(12):e31302. doi: 10.1002/pbc.31302. Epub 2024 Sep 19. Pediatr Blood Cancer. 2024. PMID: 39300701
Glioma oncogenesis in the Constitutional mismatch repair deficiency (CMMRD) syndrome.
Guerrini-Rousseau L, Merlevede J, Denizeau P, Andreiuolo F, Varlet P, Puget S, Beccaria K, Blauwblomme T, Cabaret O, Hamzaoui N, Bourdeaut F, Faure-Conter C, Muleris M, Colas C, Adam de Beaumais T, Castel D, Rouleau E, Brugières L, Grill J, Debily MA. Guerrini-Rousseau L, et al. Neurooncol Adv. 2024 Jul 11;6(1):vdae120. doi: 10.1093/noajnl/vdae120. eCollection 2024 Jan-Dec. Neurooncol Adv. 2024. PMID: 39233831 Free PMC article.
Postzygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: A not-so-rare condition exposing to successive tumors.
Thomson G, Filser M, Guerrini-Rousseau L, Tauziede-Espariat A, Bourneix C, Gauthier-Villars M, Simaga F, Beccaria K, Faure-Conter C, Maureille A, Zattara-Cannoni H, Andre N, Entz-Werle N, Brugieres L, Mansuy L, Denizeau P, Julia S, Ingster O, Lejeune S, Brahimi A, Coupier I, Bonadona V, Delattre O, Masliah-Planchon J, Bourdeaut F. Thomson G, et al. Among authors: guerrini rousseau l. Neuro Oncol. 2024 Nov 4;26(11):2102-2112. doi: 10.1093/neuonc/noae122. Neuro Oncol. 2024. PMID: 39093628
Supra-tentorial Ependymomas with ZFTA Fusion, YAP1 Fusion, and Astroblastomas, MN1-altered: Characteristic Imaging Features.
Perrod V, Levy R, Tauziède-Espariat A, Roux CJ, Beccaria K, Blauwblomme T, Grill J, Dufour C, Guerrini-Rousseau L, Abbou S, Bolle S, Roux A, Pallud J, Provost C, Oppenheim C, Varlet P, Boddaert N, Dangouloff-Ros V. Perrod V, et al. Among authors: guerrini rousseau l. Clin Neuroradiol. 2024 Dec;34(4):939-950. doi: 10.1007/s00062-024-01444-w. Epub 2024 Aug 2. Clin Neuroradiol. 2024. PMID: 39093426
Report of the sixth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Paris, France, November 16th 2022.
Guerrini-Rousseau L, Gallon R, Pineda M, Brugières L, Baert-Desurmont S, Corsini C, Dangouloff-Ros V, Gorris MAJ, Haberler C, Hoarau P, Jongmans MC, Kloor M, Loeffen J, Rigaud C, Robbe J, Vibert R, Weijers D, Wimmer K, Colas C; On behalf of the “Care For CMMRD” consortium. Guerrini-Rousseau L, et al. Fam Cancer. 2024 Nov;23(4):447-457. doi: 10.1007/s10689-024-00403-1. Epub 2024 Jul 20. Fam Cancer. 2024. PMID: 39031223 Free PMC article.
Psychological and ethical issues raised by genomic in paediatric care pathway, a qualitative analysis with parents and childhood cancer patients.
Droin-Mollard M, de Montgolfier S, Gimenez-Roqueplo AP, Flahault C, Petit A, Bourdeaut F, Julia S, Rial-Sebbag E, Coupier I, Simaga F, Brugières L, Guerrini-Rousseau L, Claret B, Cavé H, Strullu M, Hervouet L, Lahlou-Laforêt K. Droin-Mollard M, et al. Among authors: guerrini rousseau l. Eur J Hum Genet. 2024 Nov;32(11):1446-1455. doi: 10.1038/s41431-024-01653-4. Epub 2024 Jul 13. Eur J Hum Genet. 2024. PMID: 38997469 Free PMC article.
Specific brain MRI features of constitutional mismatch repair deficiency syndrome in children with high-grade gliomas.
Raveneau M, Guerrini-Rousseau L, Levy R, Roux CJ, Bolle S, Doz F, Bourdeaut F, Colas C, Blauwblomme T, Beccaria K, Tauziède-Espariat A, Varlet P, Dufour C, Grill J, Boddaert N, Dangouloff-Ros V. Raveneau M, et al. Among authors: guerrini rousseau l. Eur Radiol. 2024 Dec;34(12):7765-7775. doi: 10.1007/s00330-024-10885-3. Epub 2024 Jul 9. Eur Radiol. 2024. PMID: 38981890
Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window.
Guerrini-Rousseau L, Masliah-Planchon J, Filser M, Tauziède-Espariat A, Entz-Werle N, Maugard CM, Hopman SMJ, Torrejon J, Gauthier-Villars M, Simaga F, Blauwblomme T, Beccaria K, Rouleau E, Dimaria M, Grill J, Abbou S, Claret B, Brugières L, Doz F, Bouchoucha Y, Faure-Conter C, Bonadona V, Mansuy L, de Carli E, Ingster O, Legrand C, Pagnier A, Berthet P, Bodet D, Julia S, Bertozzi AI, Wilems M, Maurage CA, Delattre O, Ayrault O, Dufour C, Bourdeaut F. Guerrini-Rousseau L, et al. Neurooncol Adv. 2024 May 15;6(1):vdae075. doi: 10.1093/noajnl/vdae075. eCollection 2024 Jan-Dec. Neurooncol Adv. 2024. PMID: 38962751 Free PMC article.
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