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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
Four families with loss of function mutations of the thyrotropin receptor.
de Roux N, Misrahi M, Brauner R, Houang M, Carel JC, Granier M, Le Bouc Y, Ghinea N, Boumedienne A, Toublanc JE, Milgrom E. de Roux N, et al. Among authors: brauner r. J Clin Endocrinol Metab. 1996 Dec;81(12):4229-35. doi: 10.1210/jcem.81.12.8954020. J Clin Endocrinol Metab. 1996. PMID: 8954020
320 results