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Page 1
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: riepe fg. 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
A neonatal form of isolated ACTH deficiency frequently associated with Tpit gene mutations.
Vallette-Kasic S, Pulichino AM, Gueydan M, Barlier A, David M, Malpuech G, Deal C, Van Vliet G, de Vroede M, Riepe F, Partsch CJ, Sippell W, Berberoglu M, Atasay B, de Zegher F, Kyllo J, Donohoue P, Dechelotte P, Fassnacht M, Noordam K, Dunkel L, Pigeon B, Weill J, Yigit S, Brauner R, Leger J, Heinrich JJ, Enjalbert A, Brue T, Drouin J. Vallette-Kasic S, et al. Endocr Res. 2004 Nov;30(4):943-4. doi: 10.1081/erc-200044166. Endocr Res. 2004. PMID: 15666849 No abstract available.
Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency.
Pulichino AM, Vallette-Kasic S, Couture C, Gauthier Y, Brue T, David M, Malpuech G, Deal C, Van Vliet G, De Vroede M, Riepe FG, Partsch CJ, Sippell WG, Berberoglu M, Atasay B, Drouin J. Pulichino AM, et al. Among authors: riepe fg. Genes Dev. 2003 Mar 15;17(6):711-6. doi: 10.1101/gad.1065603. Genes Dev. 2003. PMID: 12651888 Free PMC article.
Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene.
Krone N, Riepe FG, Götze D, Korsch E, Rister M, Commentz J, Partsch CJ, Grötzinger J, Peter M, Sippell WG. Krone N, et al. Among authors: riepe fg. J Clin Endocrinol Metab. 2005 Jun;90(6):3724-30. doi: 10.1210/jc.2005-0089. Epub 2005 Mar 8. J Clin Endocrinol Metab. 2005. PMID: 15755848
Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency.
Krone N, Grischuk Y, Müller M, Volk RE, Grötzinger J, Holterhus PM, Sippell WG, Riepe FG. Krone N, et al. Among authors: riepe fg. J Clin Endocrinol Metab. 2006 Jul;91(7):2682-8. doi: 10.1210/jc.2006-0209. Epub 2006 May 2. J Clin Endocrinol Metab. 2006. PMID: 16670167
94 results