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First report of medulloblastoma in a patient with MUTYH-associated polyposis.
Villy MC, Warcoin M, Filser M, Buecher B, Golmard L, Suybeng V, Schwartz M, Bieche I, Vacher S, Laurence V, Bourdeaut F, Bernier M, Gutman T, Stoppa-Lyonnet D, Masliah-Planchon J, Colas C. Villy MC, et al. Neuropathol Appl Neurobiol. 2023 Aug;49(4):e12929. doi: 10.1111/nan.12929. Neuropathol Appl Neurobiol. 2023. PMID: 37524406
SMARCA4-deficient Thoracic Sarcomas: Clinicopathologic Study of 30 Cases With an Emphasis on Their Nosology and Differential Diagnoses.
Perret R, Chalabreysse L, Watson S, Serre I, Garcia S, Forest F, Yvorel V, Pissaloux D, Thomas de Montpreville V, Masliah-Planchon J, Lantuejoul S, Brevet M, Blay JY, Coindre JM, Tirode F, Le Loarer F. Perret R, et al. Am J Surg Pathol. 2019 Apr;43(4):455-465. doi: 10.1097/PAS.0000000000001188. Am J Surg Pathol. 2019. PMID: 30451731
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.
[Antiphospholipid syndrome diagnosis: an update].
Visseaux B, Masliah-Planchon J, Fischer AM, Darnige L. Visseaux B, et al. Ann Biol Clin (Paris). 2011 Jul-Aug;69(4):411-8. doi: 10.1684/abc.2011.0592. Ann Biol Clin (Paris). 2011. PMID: 21896405 Free article. Review. French.
Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations.
Tonduti D, Dorboz I, Renaldo F, Masliah-Planchon J, Elmaleh-Bergès M, Dalens H, Rodriguez D, Boespflug-Tanguy O. Tonduti D, et al. Neurology. 2015 May 26;84(21):2195-7. doi: 10.1212/WNL.0000000000001607. Epub 2015 Apr 29. Neurology. 2015. PMID: 25925986 No abstract available.
[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.
[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.
A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.
Bluteau O, Sebert M, Leblanc T, Peffault de Latour R, Quentin S, Lainey E, Hernandez L, Dalle JH, Sicre de Fontbrune F, Lengline E, Itzykson R, Clappier E, Boissel N, Vasquez N, Da Costa M, Masliah-Planchon J, Cuccuini W, Raimbault A, De Jaegere L, Adès L, Fenaux P, Maury S, Schmitt C, Muller M, Domenech C, Blin N, Bruno B, Pellier I, Hunault M, Blanche S, Petit A, Leverger G, Michel G, Bertrand Y, Baruchel A, Socié G, Soulier J. Bluteau O, et al. Blood. 2018 Feb 15;131(7):717-732. doi: 10.1182/blood-2017-09-806489. Epub 2017 Nov 16. Blood. 2018. PMID: 29146883 Free article.
127 results