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CHARGE syndrome: report of 47 cases and review.
Tellier AL, Cormier-Daire V, Abadie V, Amiel J, Sigaudy S, Bonnet D, de Lonlay-Debeney P, Morrisseau-Durand MP, Hubert P, Michel JL, Jan D, Dollfus H, Baumann C, Labrune P, Lacombe D, Philip N, LeMerrer M, Briard ML, Munnich A, Lyonnet S. Tellier AL, et al. Am J Med Genet. 1998 Apr 13;76(5):402-9. doi: 10.1002/(sici)1096-8628(19980413)76:5<402::aid-ajmg7>3.0.co;2-o. Am J Med Genet. 1998. PMID: 9556299 Review.
Features of DiGeorge syndrome and CHARGE association in five patients.
de Lonlay-Debeney P, Cormier-Daire V, Amiel J, Abadie V, Odent S, Paupe A, Couderc S, Tellier AL, Bonnet D, Prieur M, Vekemans M, Munnich A, Lyonnet S. de Lonlay-Debeney P, et al. J Med Genet. 1997 Dec;34(12):986-9. doi: 10.1136/jmg.34.12.986. J Med Genet. 1997. PMID: 9429139 Free PMC article.
Ebstein anomaly associated with rearrangements of chromosomal region 11q.
de Lonlay-Debeney P, de Blois MC, Bonnet D, Amiel J, Abadie V, Picq M, Lyonnet S, Sidi D, Munnich A, Vekemans M, Cormier-Daire V. de Lonlay-Debeney P, et al. Am J Med Genet. 1998 Nov 2;80(2):157-9. doi: 10.1002/(sici)1096-8628(19981102)80:2<157::aid-ajmg12>3.0.co;2-u. Am J Med Genet. 1998. PMID: 9805133
[Persistent hyperinsulinemic hypoglycemia in the newborn and infants].
de Lonlay-Debeney P, Fournet JC, Martin D, Poggi F, Dionisi Vicci C, Spada M, Touati G, Rahier J, Brunelle F, Junien C, Robert JJ, Nihoul-Fékété C, Saudubray JM. de Lonlay-Debeney P, et al. Arch Pediatr. 1998 Dec;5(12):1347-52. doi: 10.1016/s0929-693x(99)80055-4. Arch Pediatr. 1998. PMID: 9885743 Review. French.
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. N Engl J Med. 1999 Apr 15;340(15):1169-75. doi: 10.1056/NEJM199904153401505. N Engl J Med. 1999. PMID: 10202168 Free article.
16 results