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Page 1
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. Among authors: simaga f. 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.
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
Caputo SM, Golmard L, Léone M, Damiola F, Guillaud-Bataille M, Revillion F, Rouleau E, Derive N, Buisson A, Basset N, Schwartz M, Vilquin P, Garrec C, Privat M, Gay-Bellile M, Abadie C, Abidallah K, Airaud F, Allary AS, Barouk-Simonet E, Belotti M, Benigni C, Benusiglio PR, Berthemin C, Berthet P, Bertrand O, Bézieau S, Bidart M, Bignon YJ, Birot AM, Blanluet M, Bloucard A, Bombled J, Bonadona V, Bonnet F, Bonnet-Dupeyron MN, Boulaire M, Boulouard F, Bouras A, Bourdon V, Brahimi A, Brayotel F, Bressac de Paillerets B, Bronnec N, Bubien V, Buecher B, Cabaret O, Carriere J, Chiesa J, Chieze-Valéro S, Cohen C, Cohen-Haguenauer O, Colas C, Collonge-Rame MA, Conoy AL, Coulet F, Coupier I, Crivelli L, Cusin V, De Pauw A, Dehainault C, Delhomelle H, Delnatte C, Demontety S, Denizeau P, Devulder P, Dreyfus H, d'Enghein CD, Dupré A, Durlach A, Dussart S, Fajac A, Fekairi S, Fert-Ferrer S, Fiévet A, Fouillet R, Mouret-Fourme E, Gauthier-Villars M, Gesta P, Giraud S, Gladieff L, Goldbarg V, Goussot V, Guibert V, Guillerm E, Guy C, Hardouin A, Heude C, Houdayer C, Ingster O, Jacquot-Sawka C, Jones N, Krieger S, Lacoste S, Lallaoui H, Larbre H, Laugé A, Le Guyadec G, Le Mentec M, Lecerf C, Le … See abstract for full author list ➔ Caputo SM, et al. Among authors: simaga f. Am J Hum Genet. 2021 Oct 7;108(10):1907-1923. doi: 10.1016/j.ajhg.2021.09.003. Epub 2021 Sep 30. Am J Hum Genet. 2021. PMID: 34597585 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: simaga f. 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.
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: simaga f. Neuro Oncol. 2024 Nov 4;26(11):2102-2112. doi: 10.1093/neuonc/noae122. Neuro Oncol. 2024. PMID: 39093628
Association of Partial Chromosome 3 Deletion in Uveal Melanomas With Metastasis-Free Survival.
Rodrigues M, Ait Rais K, Salviat F, Algret N, Simaga F, Barnhill R, Gardrat S, Servois V, Mariani P, Piperno-Neumann S, Roman-Roman S, Delattre O, Cassoux N, Savignoni A, Stern MH, Pierron G. Rodrigues M, et al. Among authors: simaga f. JAMA Ophthalmol. 2020 Feb 1;138(2):182-188. doi: 10.1001/jamaophthalmol.2019.5403. JAMA Ophthalmol. 2020. PMID: 31895446 Free PMC article.
[HIV communication paradigms must be changed in Africa].
Seytre B, Yoro BM, Djedou MA, Madiarra OC, Mamey K, Diabagate A, Kouamé KB, Simaga F. Seytre B, et al. Among authors: simaga f. Med Trop Sante Int. 2021 Feb 18;1(1):JNZG-J383. doi: 10.48327/JNZG-J383. eCollection 2021 Mar 31. Med Trop Sante Int. 2021. PMID: 35685399 Free PMC article. French.