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HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.
McNay DE, Turton JP, Kelberman D, Woods KS, Brauner R, Papadimitriou A, Keller E, Keller A, Haufs N, Krude H, Shalet SM, Dattani MT. McNay DE, et al. Among authors: brauner r. J Clin Endocrinol Metab. 2007 Feb;92(2):691-7. doi: 10.1210/jc.2006-1609. Epub 2006 Dec 5. J Clin Endocrinol Metab. 2007. PMID: 17148560
PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency.
Vallette-Kasic S, Barlier A, Teinturier C, Diaz A, Manavela M, Berthezène F, Bouchard P, Chaussain JL, Brauner R, Pellegrini-Bouiller I, Jaquet P, Enjalbert A, Brue T. Vallette-Kasic S, et al. Among authors: brauner r. J Clin Endocrinol Metab. 2001 Sep;86(9):4529-35. doi: 10.1210/jcem.86.9.7811. J Clin Endocrinol Metab. 2001. PMID: 11549703
Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations.
Vallette-Kasic S, Brue T, Pulichino AM, Gueydan M, Barlier A, David M, Nicolino M, Malpuech G, Déchelotte P, Deal C, Van Vliet G, De Vroede M, Riepe FG, Partsch CJ, Sippell WG, Berberoglu M, Atasay B, de Zegher F, Beckers D, Kyllo J, Donohoue P, Fassnacht M, Hahner S, Allolio B, Noordam C, Dunkel L, Hero M, Pigeon B, Weill J, Yigit S, Brauner R, Heinrich JJ, Cummings E, Riddell C, Enjalbert A, Drouin J. Vallette-Kasic S, et al. Among authors: brauner r. J Clin Endocrinol Metab. 2005 Mar;90(3):1323-31. doi: 10.1210/jc.2004-1300. Epub 2004 Dec 21. J Clin Endocrinol Metab. 2005. PMID: 15613420
Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.
Alatzoglou KS, Turton JP, Kelberman D, Clayton PE, Mehta A, Buchanan C, Aylwin S, Crowne EC, Christesen HT, Hertel NT, Trainer PJ, Savage MO, Raza J, Banerjee K, Sinha SK, Ten S, Mushtaq T, Brauner R, Cheetham TD, Hindmarsh PC, Mullis PE, Dattani MT. Alatzoglou KS, et al. Among authors: brauner r. J Clin Endocrinol Metab. 2009 Sep;94(9):3191-9. doi: 10.1210/jc.2008-2783. Epub 2009 Jun 30. J Clin Endocrinol Metab. 2009. PMID: 19567534
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: brauner r. Clin Endocrinol (Oxf). 2021 Feb;94(2):277-289. doi: 10.1111/cen.14355. Epub 2020 Dec 21. Clin Endocrinol (Oxf). 2021. PMID: 33098107
318 results