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Page 1
Author Correction: Failure of human rhombic lip differentiation underlies medulloblastoma formation.
Hendrikse LD, Haldipur P, Saulnier O, Millman J, Sjoboen AH, Erickson AW, Ong W, Gordon V, Coudière-Morrison L, Mercier AL, Shokouhian M, Suárez RA, Ly M, Borlase S, Scott DS, Vladoiu MC, Farooq H, Sirbu O, Nakashima T, Nambu S, Funakoshi Y, Bahcheli A, Diaz-Mejia JJ, Golser J, Bach K, Phuong-Bao T, Skowron P, Wang EY, Kumar SA, Balin P, Visvanathan A, Lee JJY, Ayoub R, Chen X, Chen X, Mungall KL, Luu B, Bérubé P, Wang YC, Pfister SM, Kim SK, Delattre O, Bourdeaut F, Doz F, Masliah-Planchon J, Grajkowska WA, Loukides J, Dirks P, Fèvre-Montange M, Jouvet A, French PJ, Kros JM, Zitterbart K, Bailey SD, Eberhart CG, Rao AAN, Giannini C, Olson JM, Garami M, Hauser P, Phillips JJ, Ra YS, de Torres C, Mora J, Li KKW, Ng HK, Poon WS, Pollack IF, López-Aguilar E, Gillespie GY, Van Meter TE, Shofuda T, Vibhakar R, Thompson RC, Cooper MK, Rubin JB, Kumabe T, Jung S, Lach B, Iolascon A, Ferrucci V, de Antonellis P, Zollo M, Cinalli G, Robinson S, Stearns DS, Van Meir EG, Porrati P, Finocchiaro G, Massimino M, Carlotti CG, Faria CC, Roussel MF, Boop F, Chan JA, Aldinger KA, Razavi F, Silvestri E, McLendon RE, Thompson EM, Ansari M, Garre ML, Chico F, Eguía P, Pérezpeña M, Morrissy AS, Cavalli… See abstract for full author list ➔ Hendrikse LD, et al. Nature. 2022 Dec;612(7940):E12. doi: 10.1038/s41586-022-05578-0. Nature. 2022. PMID: 36446943 Free PMC article. No abstract available.
The activation of the WNT signaling pathway is a Hallmark in neurofibromatosis type 1 tumorigenesis.
Luscan A, Shackleford G, Masliah-Planchon J, Laurendeau I, Ortonne N, Varin J, Lallemand F, Leroy K, Dumaine V, Hivelin M, Borderie D, De Raedt T, Valeyrie-Allanore L, Larousserie F, Terris B, Lantieri L, Vidaud M, Vidaud D, Wolkenstein P, Parfait B, Bièche I, Massaad C, Pasmant E. Luscan A, et al. Clin Cancer Res. 2014 Jan 15;20(2):358-71. doi: 10.1158/1078-0432.CCR-13-0780. Epub 2013 Nov 11. Clin Cancer Res. 2014. PMID: 24218515
IL28B polymorphism is associated with treatment response in patients with genotype 4 chronic hepatitis C.
Asselah T, De Muynck S, Broët P, Masliah-Planchon J, Blanluet M, Bièche I, Lapalus M, Martinot-Peignoux M, Lada O, Estrabaud E, Zhang Q, El Ray A, Vidaud D, Ripault MP, Boyer N, Bedossa P, Valla D, Vidaud M, Marcellin P. Asselah T, et al. J Hepatol. 2012 Mar;56(3):527-32. doi: 10.1016/j.jhep.2011.09.008. Epub 2011 Sep 25. J Hepatol. 2012. PMID: 21951981
[Antiphospholipid antibodies and haemostasis].
Masliah-Planchon J, Darnige L. Masliah-Planchon J, et al. Rev Med Interne. 2012 Apr;33(4):181-8. doi: 10.1016/j.revmed.2011.10.008. Epub 2011 Nov 17. Rev Med Interne. 2012. PMID: 22100379 Review. French.
Efficacy of molecularly targeted agents given in the randomised trial SHIVA01 according to the ESMO Scale for Clinical Actionability of molecular Targets.
Moreira A, Masliah-Planchon J, Callens C, Vacher S, Lecerf C, Frelaut M, Borcoman E, Torossian N, Ricci F, Hescot S, Sablin MP, Tresca P, Loirat D, Melaabi S, Trabelsi-Grati O, Pierron G, Gentien D, Bernard V, Vincent Salomon A, Servant N, Bieche I, Le Tourneau C, Kamal M. Moreira A, et al. Eur J Cancer. 2019 Nov;121:202-209. doi: 10.1016/j.ejca.2019.09.001. Epub 2019 Oct 5. Eur J Cancer. 2019. PMID: 31593830
Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
Masliah-Planchon J, Dupont C, Vartzelis G, Trimouille A, Eymard-Pierre E, Gay-Bellile M, Renaldo F, Dorboz I, Pagan C, Quentin S, Elmaleh M, Kotsogianni C, Konstantelou E, Drunat S, Tabet AC, Boespflug-Tanguy O. Masliah-Planchon J, et al. BMC Med Genet. 2015 Sep 2;16:77. doi: 10.1186/s12881-015-0226-6. BMC Med Genet. 2015. PMID: 26329556 Free PMC article.
Biallelic inactivation of REV7 is associated with Fanconi anemia.
Bluteau D, Masliah-Planchon J, Clairmont C, Rousseau A, Ceccaldi R, Dubois d'Enghien C, Bluteau O, Cuccuini W, Gachet S, Peffault de Latour R, Leblanc T, Socié G, Baruchel A, Stoppa-Lyonnet D, D'Andrea AD, Soulier J. Bluteau D, et al. J Clin Invest. 2016 Sep 1;126(9):3580-4. doi: 10.1172/JCI88010. Epub 2016 Aug 8. J Clin Invest. 2016. PMID: 27500492 Free PMC article.
[Review: delta-storage pool disease].
Masliah-Planchon J, Flaujac C, Tapon-Bretaudière J, Cramer-Bordé EM, Darnige L. Masliah-Planchon J, et al. Ann Biol Clin (Paris). 2008 Jul-Aug;66(4):365-9. doi: 10.1684/abc.2008.0245. Ann Biol Clin (Paris). 2008. PMID: 18725336 Free article. Review. French.
dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure.
Dos Santos RS, Daures M, Philippi A, Romero S, Marselli L, Marchetti P, Senée V, Bacq D, Besse C, Baz B, Marroquí L, Ivanoff S, Masliah-Planchon J, Nicolino M, Soulier J, Socié G, Eizirik DL, Gautier JF, Julier C. Dos Santos RS, et al. Diabetes. 2017 Apr;66(4):1086-1096. doi: 10.2337/db16-0839. Epub 2017 Jan 10. Diabetes. 2017. PMID: 28073829
127 results