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Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Koczkowska M, et al. Among authors: perreault s. Genet Med. 2019 Apr;21(4):867-876. doi: 10.1038/s41436-018-0269-0. Epub 2018 Sep 7. Genet Med. 2019. PMID: 30190611 Free PMC article.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Koczkowska M, et al. Among authors: perreault s. Genet Med. 2019 Mar;21(3):764-765. doi: 10.1038/s41436-018-0326-8. Genet Med. 2019. PMID: 30275510 Free PMC article.
A phase 2 study of trametinib for patients with pediatric glioma or plexiform neurofibroma with refractory tumor and activation of the MAPK/ERK pathway: TRAM-01.
Perreault S, Larouche V, Tabori U, Hawkin C, Lippé S, Ellezam B, Décarie JC, Théoret Y, Métras MÉ, Sultan S, Cantin É, Routhier MÈ, Caru M, Legault G, Bouffet É, Lafay-Cousin L, Hukin J, Erker C, Jabado N. Perreault S, et al. BMC Cancer. 2019 Dec 27;19(1):1250. doi: 10.1186/s12885-019-6442-2. BMC Cancer. 2019. PMID: 31881853 Free PMC article.
Impact of trametinib on the neuropsychological profile of NF1 patients.
Lalancette E, Cantin É, Routhier MÈ, Mailloux C, Bertrand MC, Kiaei DS, Larouche V, Tabori U, Hawkins C, Ellezam B, Décarie JC, Théoret Y, Métras MÉ, McKeown T, Ospina LH, Vairy S, Ramaswamy V, Coltin H, Sultan S, Legault G, Bouffet É, Lafay-Cousin L, Hukin J, Erker C, Caru M, Dehaes M, Jabado N, Perreault S, Lippé S. Lalancette E, et al. Among authors: perreault s. J Neurooncol. 2024 May;167(3):447-454. doi: 10.1007/s11060-024-04624-3. Epub 2024 Mar 5. J Neurooncol. 2024. PMID: 38443693 Clinical Trial.
LOGGIC/FIREFLY-2: a phase 3, randomized trial of tovorafenib vs. chemotherapy in pediatric and young adult patients with newly diagnosed low-grade glioma harboring an activating RAF alteration.
van Tilburg CM, Kilburn LB, Perreault S, Schmidt R, Azizi AA, Cruz-Martínez O, Zápotocký M, Scheinemann K, Meeteren AYNS, Sehested A, Opocher E, Driever PH, Avula S, Ziegler DS, Capper D, Koch A, Sahm F, Qiu J, Tsao LP, Blackman SC, Manley P, Milde T, Witt R, Jones DTW, Hargrave D, Witt O. van Tilburg CM, et al. Among authors: perreault s. BMC Cancer. 2024 Jan 30;24(1):147. doi: 10.1186/s12885-024-11820-x. BMC Cancer. 2024. PMID: 38291372 Free PMC article. Clinical Trial.
Recurrence patterns across medulloblastoma subgroups: an integrated clinical and molecular analysis.
Ramaswamy V, Remke M, Bouffet E, Faria CC, Perreault S, Cho YJ, Shih DJ, Luu B, Dubuc AM, Northcott PA, Schüller U, Gururangan S, McLendon R, Bigner D, Fouladi M, Ligon KL, Pomeroy SL, Dunn S, Triscott J, Jabado N, Fontebasso A, Jones DT, Kool M, Karajannis MA, Gardner SL, Zagzag D, Nunes S, Pimentel J, Mora J, Lipp E, Walter AW, Ryzhova M, Zheludkova O, Kumirova E, Alshami J, Croul SE, Rutka JT, Hawkins C, Tabori U, Codispoti KE, Packer RJ, Pfister SM, Korshunov A, Taylor MD. Ramaswamy V, et al. Among authors: perreault s. Lancet Oncol. 2013 Nov;14(12):1200-7. doi: 10.1016/S1470-2045(13)70449-2. Epub 2013 Oct 17. Lancet Oncol. 2013. PMID: 24140199 Free PMC article.
358 results