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Page 1
Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh-frozen breast/ovarian tumor versus blood.
Schwartz M, Moncoutier V, Peytral A, Le Gall J, Suybeng V, Pagès M, Masliah-Planchon J, Trabelsi-Grati O, Melaabi S, Callens C, Bièche I, Delhomelle H, De Pauw A, Saule C, Mouret-Fourme E, Gauthier-Villars M, Buecher B, Colas C, Stoppa-Lyonnet D, Golmard L. Schwartz M, et al. Clin Genet. 2023 Jul;104(1):107-113. doi: 10.1111/cge.14327. Epub 2023 Mar 27. Clin Genet. 2023. PMID: 36974006
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
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.
Hippocampal Sparing During Craniospinal Irradiation: What Did We Learn About the Incidence of Perihippocampus Metastases?
Padovani L, Chapon F, André N, Boucekine M, Geoffray A, Bourdeau F, Masliah-Planchon J, Claude L, Huchet A, Laprie A, Supiot S, Coche-Dequéant B, Kerr C, Alapetite C, Leseur J, Nguyen T, Chapet S, Bernier V, Bondiau PY, Noel G, Habrand JL, Bolle S, Doz F, Dufour C, Muracciole X, Carrie C. Padovani L, et al. Int J Radiat Oncol Biol Phys. 2018 Mar 15;100(4):980-986. doi: 10.1016/j.ijrobp.2017.12.265. Epub 2017 Dec 21. Int J Radiat Oncol Biol Phys. 2018. PMID: 29485078
[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.
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