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Page 1
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaëc N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK. Ganapathi M, et al. Among authors: bourhis a. J Inherit Metab Dis. 2022 Sep;45(5):996-1012. doi: 10.1002/jimd.12526. Epub 2022 Jul 11. J Inherit Metab Dis. 2022. PMID: 35621276 Free PMC article.
PD-L1 Immunohistochemistry-Discrepant Results Between Synchronous Tumor Samples May Cause More Treatment Choice Dilemmas Than Molecular Heterogeneity in Patients With Advanced Non-Small Cell Lung Cancers.
Lambros L, Quintin-Roué I, Bourhis A, Remoué A, Le Flahec G, Marcorelles P, Uguen A. Lambros L, et al. Among authors: bourhis a. Appl Immunohistochem Mol Morphol. 2020 Jul;28(6):437-443. doi: 10.1097/PAI.0000000000000768. Appl Immunohistochem Mol Morphol. 2020. PMID: 31498156
Histological and imaging characteristics of acute colchicine myotoxicity.
Quéré B, Bourhis A, Marcorelles P, Uguen A, Noury JB, Alavi Z, Cornec D, Guellec D. Quéré B, et al. Among authors: bourhis a. Joint Bone Spine. 2022 Jul;89(4):105341. doi: 10.1016/j.jbspin.2021.105341. Epub 2022 Jan 4. Joint Bone Spine. 2022. PMID: 34995757 No abstract available.
Detection of NTRK fusions in glioblastoma: fluorescent in situ hybridisation is more useful than pan-TRK immunohistochemistry as a screening tool prior to RNA sequencing.
Bourhis A, Caumont C, Quintin-Roué I, Magro E, Dissaux G, Remoué A, Le Noac'h P, Douet-Guilbert N, Seizeur R, Tyulyandina A, Schick U, Merlio JP, Marcorelles P, Cappellen D, Uguen A. Bourhis A, et al. Pathology. 2022 Feb;54(1):55-62. doi: 10.1016/j.pathol.2021.05.100. Epub 2021 Sep 10. Pathology. 2022. PMID: 34518039
Evaluation of KRAS, NRAS and BRAF mutational status and microsatellite instability in early colorectal carcinomas invading the submucosa (pT1): towards an in-house molecular prognostication for pathologists?
Bourhis A, De Luca C, Cariou M, Vigliar E, Barel F, Conticelli F, Marcorelles P, Nousbaum JB, Robaszkiewicz M, Samaison L, Badic B, Doucet L, Troncone G, Uguen A. Bourhis A, et al. J Clin Pathol. 2020 Nov;73(11):741-747. doi: 10.1136/jclinpath-2020-206496. Epub 2020 Apr 9. J Clin Pathol. 2020. PMID: 32273401
High reproducibility is attainable in assessing histoprognostic parameters of pT1 colorectal cancer using routine histopathology slides and immunohistochemistry analyses.
Barel F, Auffret A, Cariou M, Kermarrec T, Samaison L, Bourhis A, Badic B, Jézéquel J, Cholet F, Bail JP, Marcorelles P, Nousbaum JB, Robaszkiewicz M, Doucet L, Uguen A. Barel F, et al. Among authors: bourhis a. Pathology. 2019 Jan;51(1):46-54. doi: 10.1016/j.pathol.2018.10.007. Epub 2018 Nov 23. Pathology. 2019. PMID: 30477880
54 results