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Page 1
Successful treatment of congenital hyperinsulinism with long-acting release octreotide.
Le Quan Sang KH, Arnoux JB, Mamoune A, Saint-Martin C, Bellanné-Chantelot C, Valayannopoulos V, Brassier A, Kayirangwa H, Barbier V, Broissand C, Fabreguettes JR, Charron B, Thalabard JC, de Lonlay P. Le Quan Sang KH, et al. Eur J Endocrinol. 2012 Feb;166(2):333-9. doi: 10.1530/EJE-11-0874. Epub 2011 Nov 2. Eur J Endocrinol. 2012. PMID: 22048969 Clinical Trial.
KATP channel mutations in congenital hyperinsulinism.
Saint-Martin C, Arnoux JB, de Lonlay P, Bellanné-Chantelot C. Saint-Martin C, et al. Semin Pediatr Surg. 2011 Feb;20(1):18-22. doi: 10.1053/j.sempedsurg.2010.10.012. Semin Pediatr Surg. 2011. PMID: 21185999 Review.
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
[Congenital hyperinsulinism in newborn and infant].
Giurgea I, Ribeiro MJ, Boddaert N, Touati G, Robert JJ, Saudubray JM, Jaubert F, Bellanné-Chantelot C, Brunelle F, Nihoul-Fékété C, de Lonlay P. Giurgea I, et al. Arch Pediatr. 2005 Nov;12(11):1628-35. doi: 10.1016/j.arcped.2005.07.016. Epub 2005 Sep 28. Arch Pediatr. 2005. PMID: 16198094 Review. French.
Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism.
Saint-Martin C, Cauchois-Le Mière M, Rex E, Soukarieh O, Arnoux JB, Buratti J, Bouvet D, Frébourg T, Gaildrat P, Shyng SL, Bellanné-Chantelot C, Martins A. Saint-Martin C, et al. Hum Mutat. 2021 Apr;42(4):408-420. doi: 10.1002/humu.24164. Epub 2021 Jan 28. Hum Mutat. 2021. PMID: 33410562 Free PMC article.
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
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
201 results