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An intronic growth hormone receptor mutation causing activation of a pseudoexon is associated with a broad spectrum of growth hormone insensitivity phenotypes.
David A, Camacho-Hübner C, Bhangoo A, Rose SJ, Miraki-Moud F, Akker SA, Butler GE, Ten S, Clayton PE, Clark AJ, Savage MO, Metherell LA. David A, et al. Among authors: akker sa. J Clin Endocrinol Metab. 2007 Feb;92(2):655-9. doi: 10.1210/jc.2006-1527. Epub 2006 Dec 5. J Clin Endocrinol Metab. 2007. PMID: 17148568
The role of the aryl hydrocarbon receptor-interacting protein gene in familial and sporadic pituitary adenomas.
Leontiou CA, Gueorguiev M, van der Spuy J, Quinton R, Lolli F, Hassan S, Chahal HS, Igreja SC, Jordan S, Rowe J, Stolbrink M, Christian HC, Wray J, Bishop-Bailey D, Berney DM, Wass JA, Popovic V, Ribeiro-Oliveira A Jr, Gadelha MR, Monson JP, Akker SA, Davis JR, Clayton RN, Yoshimoto K, Iwata T, Matsuno A, Eguchi K, Musat M, Flanagan D, Peters G, Bolger GB, Chapple JP, Frohman LA, Grossman AB, Korbonits M. Leontiou CA, et al. Among authors: akker sa. J Clin Endocrinol Metab. 2008 Jun;93(6):2390-401. doi: 10.1210/jc.2007-2611. Epub 2008 Apr 1. J Clin Endocrinol Metab. 2008. PMID: 18381572
Assessment of p27 (cyclin-dependent kinase inhibitor 1B) and aryl hydrocarbon receptor-interacting protein (AIP) genes in multiple endocrine neoplasia (MEN1) syndrome patients without any detectable MEN1 gene mutations.
Igreja S, Chahal HS, Akker SA, Gueorguiev M, Popovic V, Damjanovic S, Burman P, Wass JA, Quinton R, Grossman AB, Korbonits M. Igreja S, et al. Among authors: akker sa. Clin Endocrinol (Oxf). 2009 Feb;70(2):259-64. doi: 10.1111/j.1365-2265.2008.03379.x. Epub 2008 Aug 15. Clin Endocrinol (Oxf). 2009. PMID: 18710468
Clinical experience in the screening and management of a large kindred with familial isolated pituitary adenoma due to an aryl hydrocarbon receptor interacting protein (AIP) mutation.
Williams F, Hunter S, Bradley L, Chahal HS, Storr HL, Akker SA, Kumar AV, Orme SM, Evanson J, Abid N, Morrison PJ, Korbonits M, Atkinson AB. Williams F, et al. Among authors: akker sa. J Clin Endocrinol Metab. 2014 Apr;99(4):1122-31. doi: 10.1210/jc.2013-2868. Epub 2013 Jan 1. J Clin Endocrinol Metab. 2014. PMID: 24423289
80 results