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Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.
Verkarre V, Fournet JC, de Lonlay P, Gross-Morand MS, Devillers M, Rahier J, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C. Verkarre V, et al. Among authors: rahier j. J Clin Invest. 1998 Oct 1;102(7):1286-91. doi: 10.1172/JCI4495. J Clin Invest. 1998. PMID: 9769320 Free PMC article.
Clinical features of 52 neonates with hyperinsulinism.
de Lonlay-Debeney P, Poggi-Travert F, Fournet JC, Sempoux C, Dionisi Vici C, Brunelle F, Touati G, Rahier J, Junien C, Nihoul-Fékété C, Robert JJ, Saudubray JM. de Lonlay-Debeney P, et al. Among authors: rahier j. N Engl J Med. 1999 Apr 15;340(15):1169-75. doi: 10.1056/NEJM199904153401505. N Engl J Med. 1999. PMID: 10202168 Free article.
Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11.
Fournet JC, Mayaud C, de Lonlay P, Gross-Morand MS, Verkarre V, Castanet M, Devillers M, Rahier J, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C. Fournet JC, et al. Among authors: rahier j. Am J Pathol. 2001 Jun;158(6):2177-84. doi: 10.1016/S0002-9440(10)64689-5. Am J Pathol. 2001. PMID: 11395395 Free PMC article.
Dominantly inherited hyperinsulinaemic hypoglycaemia.
de Lonlay P, Giurgea I, Sempoux C, Touati G, Jaubert F, Rahier J, Ribeiro M, Brunelle F, Nihoul-Fékété C, Robert JJ, Saudubray JM, Stanley C, Bellanné-Chantelot C. de Lonlay P, et al. Among authors: rahier j. J Inherit Metab Dis. 2005;28(3):267-76. doi: 10.1007/s10545-005-7057-0. J Inherit Metab Dis. 2005. PMID: 15868462 Review.
Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.
de Lonlay P, Fournet JC, Rahier J, Gross-Morand MS, Poggi-Travert F, Foussier V, Bonnefont JP, Brusset MC, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C. de Lonlay P, et al. Among authors: rahier j. J Clin Invest. 1997 Aug 15;100(4):802-7. doi: 10.1172/JCI119594. J Clin Invest. 1997. PMID: 9259578 Free PMC article.
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
Bellanné-Chantelot C, Saint-Martin C, Ribeiro MJ, Vaury C, Verkarre V, Arnoux JB, Valayannopoulos V, Gobrecht S, Sempoux C, Rahier J, Fournet JC, Jaubert F, Aigrain Y, Nihoul-Fékété C, de Lonlay P. Bellanné-Chantelot C, et al. Among authors: rahier j. J Med Genet. 2010 Nov;47(11):752-9. doi: 10.1136/jmg.2009.075416. Epub 2010 Aug 3. J Med Genet. 2010. PMID: 20685672
346 results