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Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
Parajes S, Loidi L, Reisch N, Dhir V, Rose IT, Hampel R, Quinkler M, Conway GS, Castro-Feijóo L, Araujo-Vilar D, Pombo M, Dominguez F, Williams EL, Cole TR, Kirk JM, Kaminsky E, Rumsby G, Arlt W, Krone N. Parajes S, et al. Among authors: kirk jm. J Clin Endocrinol Metab. 2010 Feb;95(2):779-88. doi: 10.1210/jc.2009-0651. Epub 2010 Jan 20. J Clin Endocrinol Metab. 2010. PMID: 20089618 Free PMC article.
TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.
Cangul H, Aycan Z, Saglam H, Forman JR, Cetinkaya S, Tarim O, Bober E, Cesur Y, Kurtoglu S, Darendeliler F, Bas V, Eren E, Demir K, Kiraz A, Aydin BK, Karthikeyan A, Kendall M, Boelaert K, Shaw NJ, Kirk J, Högler W, Barrett TG, Maher ER. Cangul H, et al. J Pediatr Endocrinol Metab. 2012;25(5-6):419-26. doi: 10.1515/jpem-2012-0053. J Pediatr Endocrinol Metab. 2012. PMID: 22876533
Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty.
Idkowiak J, Taylor AE, Subtil S, O'Neil DM, Vijzelaar R, Dias RP, Amin R, Barrett TG, Shackleton CH, Kirk JM, Moss C, Arlt W. Idkowiak J, et al. Among authors: kirk jm. J Clin Endocrinol Metab. 2016 Jun;101(6):2545-53. doi: 10.1210/jc.2015-4101. Epub 2016 Mar 22. J Clin Endocrinol Metab. 2016. PMID: 27003302 Free PMC article.
Pituitary gigantism causing diabetic ketoacidosis.
Alvi NS, Kirk JM. Alvi NS, et al. Among authors: kirk jm. J Pediatr Endocrinol Metab. 1999 Nov-Dec;12(6):907-9. doi: 10.1515/jpem.1999.12.6.907. J Pediatr Endocrinol Metab. 1999. PMID: 10614552
Genetic markers of insulin sensitivity and insulin secretion are associated with spontaneous postnatal growth and response to growth hormone treatment in short SGA children: the North European SGA Study (NESGAS).
Jensen RB, Thankamony A, Day F, Scott RA, Langenberg C, Kirk J, Donaldson M, Ivarsson SA, Söder O, Roche E, Hoey H, Juul A, Ong KK, Dunger DB. Jensen RB, et al. J Clin Endocrinol Metab. 2015 Mar;100(3):E503-7. doi: 10.1210/jc.2014-3469. Epub 2014 Dec 12. J Clin Endocrinol Metab. 2015. PMID: 25494864 Clinical Trial.
Adiposity in Children Born Small for Gestational Age Is Associated With β-Cell Function, Genetic Variants for Insulin Resistance, and Response to Growth Hormone Treatment.
Thankamony A, Jensen RB, O'Connell SM, Day F, Kirk J, Donaldson M, Ivarsson SA, Söder O, Roche E, Hoey H, Ong KK, Dunger DB, Juul A. Thankamony A, et al. J Clin Endocrinol Metab. 2016 Jan;101(1):131-42. doi: 10.1210/jc.2015-3019. Epub 2015 Nov 20. J Clin Endocrinol Metab. 2016. PMID: 26588449 Free PMC article.
127 results