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Page 1
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.
Géraud J, Dieterich K, Rendu J, Uro Coste E, Dobrzynski M, Marcorelle P, Ioos C, Romero NB, Baudou E, Brocard J, Coville AC, Fauré J, Koenig M, Juntas Morales R, Lacène E, Madelaine A, Marty I, Pegeot H, Theze C, Siegfried A, Cossee M, Cances C. Géraud J, et al. Among authors: siegfried a. J Med Genet. 2021 Sep;58(9):602-608. doi: 10.1136/jmedgenet-2019-106714. Epub 2020 Sep 29. J Med Genet. 2021. PMID: 32994279 Free PMC article.
Bilateral tympanic myxoma: A CARE case report.
Gallois Y, Siegfried A, Dupin-Deguine D, Deguine O. Gallois Y, et al. Among authors: siegfried a. Eur Ann Otorhinolaryngol Head Neck Dis. 2023 Jan;140(1):43-45. doi: 10.1016/j.anorl.2022.10.002. Epub 2022 Nov 1. Eur Ann Otorhinolaryngol Head Neck Dis. 2023. PMID: 36333210 Free article.
Brain tumor with an ATXN1-NUTM1 fusion gene expands the histologic spectrum of NUTM1-rearranged neoplasia.
Siegfried A, Masliah-Planchon J, Roux FE, Larrieu-Ciron D, Pierron G, Nicaise Y, Gambart M, Catalaa I, Péricart S, Dubucs C, Mohand-Oumoussa B, Tirode F, Bourdeaut F, Uro-Coste E. Siegfried A, et al. Acta Neuropathol Commun. 2019 Dec 30;7(1):220. doi: 10.1186/s40478-019-0870-8. Acta Neuropathol Commun. 2019. PMID: 31888756 Free PMC article. No abstract available.
Amyloid-β transmission through cardiac surgery using cadaveric dura mater patch.
Raposo N, Planton M, Siegfried A, Calviere L, Payoux P, Albucher JF, Viguier A, Delisle MB, Uro-Coste E, Chollet F, Bonneville F, Olivot JM, Pariente J. Raposo N, et al. Among authors: siegfried a. J Neurol Neurosurg Psychiatry. 2020 Apr;91(4):440-441. doi: 10.1136/jnnp-2019-321927. Epub 2020 Jan 20. J Neurol Neurosurg Psychiatry. 2020. PMID: 31959705 No abstract available.
EWSR1-PATZ1 gene fusion may define a new glioneuronal tumor entity.
Siegfried A, Rousseau A, Maurage CA, Pericart S, Nicaise Y, Escudie F, Grand D, Delrieu A, Gomez-Brouchet A, Le Guellec S, Franchet C, Boetto S, Vinchon M, Sol JC, Roux FE, Rigau V, Bertozzi AI, Jones DTW, Figarella-Branger D, Uro-Coste E. Siegfried A, et al. Brain Pathol. 2019 Jan;29(1):53-62. doi: 10.1111/bpa.12619. Epub 2018 Jul 13. Brain Pathol. 2019. PMID: 29679497 Free PMC article.
ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors.
Uro-Coste E, Masliah-Planchon J, Siegfried A, Blanluet M, Lambo S, Kool M, Roujeau T, Boetto S, Palenzuela G, Bertozzi AI, Gambart M, Coupier I, Oliver-Petit I, Golmard L, Julia S, Savagner F, Mohand-Oumoussa B, Tauziede-Espariat A, Delisle MB, Figarella-Branger D, Bourdeaut F, Rigau V. Uro-Coste E, et al. Among authors: siegfried a. Acta Neuropathol. 2019 Jan;137(1):175-177. doi: 10.1007/s00401-018-1935-7. Epub 2018 Nov 16. Acta Neuropathol. 2019. PMID: 30446821 No abstract available.
The EP300:BCOR fusion extends the genetic alteration spectrum defining the new tumoral entity of "CNS tumors with BCOR internal tandem duplication".
Tauziède-Espariat A, Pierron G, Siegfried A, Guillemot D, Uro-Coste E, Nicaise Y, Castel D, Catalaa I, Larrieu-Ciron D, Chaynes P, de Barros A, Nicolau J, Gareton A, Lechapt E, Chrétien F, Bourdeaut F, Doz F, Bouchoucha Y, Grill J, Beccaria K, Boddaert N, Saffroy R, Pagès M, Varlet P. Tauziède-Espariat A, et al. Among authors: siegfried a. Acta Neuropathol Commun. 2020 Nov 2;8(1):178. doi: 10.1186/s40478-020-01064-8. Acta Neuropathol Commun. 2020. PMID: 33138864 Free PMC article. No abstract available.
80 results