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434 results

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Page 1
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: saudubray jm. 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.
Facial appearance in persistent hyperinsulinemic hypoglycemia.
de Lonlay P, Cormier-Daire V, Amiel J, Touati G, Goldenberg A, Fournet JC, Brunelle F, Nihoul-Fékété C, Rahier J, Junien C, Robert JJ, Saudubray JM. de Lonlay P, et al. Among authors: saudubray jm. Am J Med Genet. 2002 Aug 1;111(2):130-3. doi: 10.1002/ajmg.10463. Am J Med Genet. 2002. PMID: 12210338
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: saudubray jm. J Clin Invest. 1997 Aug 15;100(4):802-7. doi: 10.1172/JCI119594. J Clin Invest. 1997. PMID: 9259578 Free PMC article.
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: saudubray jm. 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: saudubray jm. N Engl J Med. 1999 Apr 15;340(15):1169-75. doi: 10.1056/NEJM199904153401505. N Engl J Med. 1999. PMID: 10202168 Free article.
[Hyperinsulinism].
de Lonlay-Debeney P, Fournet JC, Touati G, Robert JJ, Junien C, Saudubray JM. de Lonlay-Debeney P, et al. Among authors: saudubray jm. Arch Pediatr. 2001 May;8 Suppl 2:298s-300s. doi: 10.1016/s0929-693x(01)80052-x. Arch Pediatr. 2001. PMID: 11394094 French. No abstract available.
Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases.
de Lonlay P, Fournet JC, Touati G, Groos MS, Martin D, Sevin C, Delagne V, Mayaud C, Chigot V, Sempoux C, Brusset MC, Laborde K, Bellane-Chantelot C, Vassault A, Rahier J, Junien C, Brunelle F, Nihoul-Fékété C, Saudubray JM, Robert JJ. de Lonlay P, et al. Among authors: saudubray jm. Eur J Pediatr. 2002 Jan;161(1):37-48. doi: 10.1007/s004310100847. Eur J Pediatr. 2002. PMID: 11808879 Review.
434 results