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Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect.
Bernal Barquero CE, Geysels RC, Jacques V, Carro GH, Martín M, Peyret V, Abregú MC, Papendieck P, Masini-Repiso AM, Savagner F, Chiesa AE, Citterio CE, Nicola JP. Bernal Barquero CE, et al. Among authors: savagner f. Int J Mol Sci. 2022 Aug 17;23(16):9251. doi: 10.3390/ijms23169251. Int J Mol Sci. 2022. PMID: 36012511 Free PMC article.
Multinodular goitre is a gateway for molecular testing of DICER1 syndrome.
Oliver-Petit I, Bertozzi AI, Grunenwald S, Gambart M, Pigeon-Kerchiche P, Sadoul JL, Caron PJ, Savagner F. Oliver-Petit I, et al. Among authors: savagner f. Clin Endocrinol (Oxf). 2019 Nov;91(5):669-675. doi: 10.1111/cen.14074. Epub 2019 Sep 13. Clin Endocrinol (Oxf). 2019. PMID: 31408196
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: savagner f. 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.
[DICER1 constitutional pathogenic variant syndrome: Where are we in 2019?].
Réguerre Y, Golmard L, Brisse HJ, Oliver Petit I, Savagner F, Boudjemaa S, Gauthier-Villars M, Rod J, Fresneau B, Orbach D. Réguerre Y, et al. Among authors: savagner f. Bull Cancer. 2019 Dec;106(12):1177-1189. doi: 10.1016/j.bulcan.2019.08.016. Epub 2019 Oct 11. Bull Cancer. 2019. PMID: 31610911 Review. French.
66 results