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An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.
Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Barnicoat A, Li H, Wallace P, Van Biervliet JP, Stevenson D, Viskochil D, Baralle D, Haan E, Riccardi V, Turnpenny P, Lazaro C, Messiaen L. Upadhyaya M, et al. Among authors: consoli c. Am J Hum Genet. 2007 Jan;80(1):140-51. doi: 10.1086/510781. Epub 2006 Dec 8. Am J Hum Genet. 2007. PMID: 17160901 Free PMC article.
A large deletion (1.5 Mb) encompassing the neurofibromatosis type 1 (NF1) gene in a patient with sporadic NF1 associated with dysmorphism, mental retardation, and unusual ocular and skeletal features.
Oktenli C, Saglam M, Demirbas S, Thompson P, Upadhyaya M, Consoli C, Ulucan H, Koz C, Durukan AH, Bozkurt A, Koc B, Kocar IH, Gul D. Oktenli C, et al. Among authors: consoli c. Clin Dysmorphol. 2003 Jul;12(3):199-201. doi: 10.1097/01.mcd.0000077565.66911.43. Clin Dysmorphol. 2003. PMID: 14564162
Unusual features in a patient with neurofibromatosis type 1: multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidney.
Oktenli C, Gul D, Deveci MS, Saglam M, Upadhyaya M, Thompson P, Consoli C, Kocar IH, Pilarski R, Zhou XP, Eng C. Oktenli C, et al. Among authors: consoli c. Am J Med Genet A. 2004 Jun 15;127A(3):298-301. doi: 10.1002/ajmg.a.30008. Am J Med Genet A. 2004. PMID: 15150783
Azithromycin therapy for prevention of chronic lung disease of prematurity (AZTEC): a multicentre, double-blind, randomised, placebo-controlled trial.
Lowe J, Gillespie D, Aboklaish A, Lau TMM, Consoli C, Babu M, Goddard M, Hood K, Klein N, Thomas-Jones E, Turner M, Hubbard M, Marchesi J, Berrington J, Kotecha S. Lowe J, et al. Among authors: consoli c. Lancet Respir Med. 2024 Apr 25:S2213-2600(24)00079-1. doi: 10.1016/S2213-2600(24)00079-1. Online ahead of print. Lancet Respir Med. 2024. PMID: 38679042 Free article.
46 results