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Familial focal congenital hyperinsulinism.
Ismail D, Smith VV, de Lonlay P, Ribeiro MJ, Rahier J, Blankenstein O, Flanagan SE, Bellanné-Chantelot C, Verkarre V, Aigrain Y, Pierro A, Ellard S, Hussain K. Ismail D, et al. J Clin Endocrinol Metab. 2011 Jan;96(1):24-8. doi: 10.1210/jc.2010-1524. Epub 2010 Oct 13. J Clin Endocrinol Metab. 2011. PMID: 20943779 Free PMC article.
Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion.
de Lonlay P, Simon-Carre A, Ribeiro MJ, Boddaert N, Giurgea I, Laborde K, Bellanné-Chantelot C, Verkarre V, Polak M, Rahier J, Syrota A, Seidenwurm D, Nihoul-Fékété C, Robert JJ, Brunelle F, Jaubert F. de Lonlay P, et al. J Clin Endocrinol Metab. 2006 Mar;91(3):933-40. doi: 10.1210/jc.2005-1713. Epub 2006 Jan 10. J Clin Endocrinol Metab. 2006. PMID: 16403819
The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism.
Giurgea I, Sempoux C, Bellanné-Chantelot C, Ribeiro M, Hubert L, Boddaert N, Saudubray JM, Robert JJ, Brunelle F, Rahier J, Jaubert F, Nihoul-Fékété C, de Lonlay P. Giurgea I, et al. J Clin Endocrinol Metab. 2006 Oct;91(10):4118-23. doi: 10.1210/jc.2006-0397. Epub 2006 Aug 1. J Clin Endocrinol Metab. 2006. PMID: 16882742
Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism.
Damaj L, le Lorch M, Verkarre V, Werl C, Hubert L, Nihoul-Fékété C, Aigrain Y, de Keyzer Y, Romana SP, Bellanne-Chantelot C, de Lonlay P, Jaubert F. Damaj L, et al. J Clin Endocrinol Metab. 2008 Dec;93(12):4941-7. doi: 10.1210/jc.2008-0673. Epub 2008 Sep 16. J Clin Endocrinol Metab. 2008. PMID: 18796520
Congenital hyperinsulinism: current trends in diagnosis and therapy.
Arnoux JB, Verkarre V, Saint-Martin C, Montravers F, Brassier A, Valayannopoulos V, Brunelle F, Fournet JC, Robert JJ, Aigrain Y, Bellanné-Chantelot C, de Lonlay P. Arnoux JB, et al. Orphanet J Rare Dis. 2011 Oct 3;6:63. doi: 10.1186/1750-1172-6-63. Orphanet J Rare Dis. 2011. PMID: 21967988 Free PMC article. Review.
Strengths and limitations of using 18fluorine-fluorodihydroxyphenylalanine PET/CT for congenital hyperinsulinism.
Montravers F, Arnoux JB, Ribeiro MJ, Kerrou K, Nataf V, Galmiche L, Aigrain Y, Bellanné-Chantelot C, Saint-Martin C, Ohnona J, Balogova S, Huchet V, Michaud L, Talbot JN, de Lonlay P. Montravers F, et al. Expert Rev Endocrinol Metab. 2014 Sep;9(5):477-485. doi: 10.1586/17446651.2014.949240. Epub 2014 Aug 13. Expert Rev Endocrinol Metab. 2014. PMID: 30736210
Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
De Franco E, Saint-Martin C, Brusgaard K, Knight Johnson AE, Aguilar-Bryan L, Bowman P, Arnoux JB, Larsen AR, Sanyoura M, Greeley SAW, Calzada-León R, Harman B, Houghton JAL, Nishimura-Meguro E, Laver TW, Ellard S, Del Gaudio D, Christesen HT, Bellanné-Chantelot C, Flanagan SE. De Franco E, et al. Hum Mutat. 2020 May;41(5):884-905. doi: 10.1002/humu.23995. Epub 2020 Feb 17. Hum Mutat. 2020. PMID: 32027066 Free PMC article. Review.
Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism.
Giurgea I, Laborde K, Touati G, Bellanné-Chantelot C, Nassogne MC, Sempoux C, Jaubert F, Khoa N, Chigot V, Rahier J, Brunelle F, Nihoul-Fékété C, Dunne MJ, Stanley C, Saudubray JM, Robert JJ, de Lonlay P. Giurgea I, et al. J Clin Endocrinol Metab. 2004 Feb;89(2):925-9. doi: 10.1210/jc.2003-030941. J Clin Endocrinol Metab. 2004. PMID: 14764815
198 results