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Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.
Buonocore F, Maharaj A, Qamar Y, Koehler K, Suntharalingham JP, Chan LF, Ferraz-de-Souza B, Hughes CR, Lin L, Prasad R, Allgrove J, Andrews ET, Buchanan CR, Cheetham TD, Crowne EC, Davies JH, Gregory JW, Hindmarsh PC, Hulse T, Krone NP, Shah P, Shaikh MG, Roberts C, Clayton PE, Dattani MT, Thomas NS, Huebner A, Clark AJ, Metherell LA, Achermann JC. Buonocore F, et al. Among authors: ferraz de souza b. J Endocr Soc. 2021 May 11;5(8):bvab086. doi: 10.1210/jendso/bvab086. eCollection 2021 Aug 1. J Endocr Soc. 2021. PMID: 34258490 Free PMC article.
Disorders of adrenal development.
Ferraz-de-Souza B, Achermann JC. Ferraz-de-Souza B, et al. Endocr Dev. 2008;13:19-32. doi: 10.1159/000134753. Endocr Dev. 2008. PMID: 18493131 Review.
Steroidogenic factor-1 (SF-1, NR5A1) and human disease.
Ferraz-de-Souza B, Lin L, Achermann JC. Ferraz-de-Souza B, et al. Mol Cell Endocrinol. 2011 Apr 10;336(1-2):198-205. doi: 10.1016/j.mce.2010.11.006. Epub 2010 Nov 13. Mol Cell Endocrinol. 2011. PMID: 21078366 Free PMC article. Review.
CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease.
Ferraz-de-Souza B, Martin F, Mallet D, Hudson-Davies RE, Cogram P, Lin L, Gerrelli D, Beuschlein F, Morel Y, Huebner A, Achermann JC. Ferraz-de-Souza B, et al. J Clin Endocrinol Metab. 2009 Feb;94(2):678-83. doi: 10.1210/jc.2008-1064. Epub 2008 Nov 4. J Clin Endocrinol Metab. 2009. PMID: 18984668 Free PMC article.
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
Lin L, Philibert P, Ferraz-de-Souza B, Kelberman D, Homfray T, Albanese A, Molini V, Sebire NJ, Einaudi S, Conway GS, Hughes IA, Jameson JL, Sultan C, Dattani MT, Achermann JC. Lin L, et al. J Clin Endocrinol Metab. 2007 Mar;92(3):991-9. doi: 10.1210/jc.2006-1672. Epub 2007 Jan 2. J Clin Endocrinol Metab. 2007. PMID: 17200175 Free PMC article.
37 results