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Page 1
CSNK2B Mutation: A Rare Cause of IGHD.
Aouchiche K, Romanet P, Barlier A, Brue T, Pertuit M, Reynaud R, Saveanu A. Aouchiche K, et al. Among authors: barlier a. Clin Endocrinol (Oxf). 2024 Dec 15. doi: 10.1111/cen.15174. Online ahead of print. Clin Endocrinol (Oxf). 2024. PMID: 39676320
Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.
Jullien N, Saveanu A, Vergier J, Marquant E, Quentien MH, Castinetti F, Galon-Faure N, Brauner R, Marrakchi Turki Z, Tauber M, El Kholy M, Linglart A, Rodien P, Fedala NS, Bergada I, Cortet-Rudelli C, Polak M, Nicolino M, Stuckens C, Barlier A, Brue T, Reynaud R; Genhypopit Network. Jullien N, et al. Among authors: barlier a. Clin Endocrinol (Oxf). 2021 Feb;94(2):277-289. doi: 10.1111/cen.14355. Epub 2020 Dec 21. Clin Endocrinol (Oxf). 2021. PMID: 33098107
Deficit in anterior pituitary function and variable immune deficiency (DAVID) in children presenting with adrenocorticotropin deficiency and severe infections.
Quentien MH, Delemer B, Papadimitriou DT, Souchon PF, Jaussaud R, Pagnier A, Munzer M, Jullien N, Reynaud R, Galon-Faure N, Enjalbert A, Barlier A, Brue T. Quentien MH, et al. Among authors: barlier a. J Clin Endocrinol Metab. 2012 Jan;97(1):E121-8. doi: 10.1210/jc.2011-0407. Epub 2011 Oct 19. J Clin Endocrinol Metab. 2012. PMID: 22013103
PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption.
Reynaud R, Jayakody SA, Monnier C, Saveanu A, Bouligand J, Guedj AM, Simonin G, Lecomte P, Barlier A, Rondard P, Martinez-Barbera JP, Guiochon-Mantel A, Brue T. Reynaud R, et al. Among authors: barlier a. J Clin Endocrinol Metab. 2012 Jun;97(6):E1068-73. doi: 10.1210/jc.2011-3056. Epub 2012 Mar 30. J Clin Endocrinol Metab. 2012. PMID: 22466334
Germinal defects of SDHx genes in patients with isolated pituitary adenoma.
Mougel G, Lagarde A, Albarel F, Essamet W, Luigi P, Mouly C, Vialon M, Cuny T, Castinetti F, Saveanu A, Brue T, Barlier A, Romanet P. Mougel G, et al. Among authors: barlier a. Eur J Endocrinol. 2020 Oct;183(4):369-379. doi: 10.1530/EJE-20-0054. Eur J Endocrinol. 2020. PMID: 32621582
IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.
Fourneaux R, Reynaud R, Mougel G, Castets S, Bretones P, Dauriat B, Edouard T, Raverot G, Barlier A, Brue T, Castinetti F, Saveanu A. Fourneaux R, et al. Among authors: barlier a. Eur J Endocrinol. 2022 Nov 3;187(6):787-795. doi: 10.1530/EJE-22-0520. Print 2022 Dec 1. Eur J Endocrinol. 2022. PMID: 36201163
196 results