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[Nebulized antibiotics in patients with cystic fibrosis].
de Gracia J, Máiz L, Prados C, Vendrell M, Baranda F, Escribano A, Gartner S, López-Andreu JA, Martínez M, Martínez MT, Pérez Frías J, Seculi JL, Sirvent J. de Gracia J, et al. Among authors: seculi jl. Med Clin (Barc). 2001 Jul 14;117(6):233-7. doi: 10.1016/s0025-7753(01)72070-2. Med Clin (Barc). 2001. PMID: 11481100 Review. Spanish. No abstract available.
Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation.
Vazquez C, Antiñolo G, Casals T, Dapena J, Elorz J, Seculi JL, Sirvent J, Cabanas R, Soler C, Estivill X. Vazquez C, et al. Among authors: seculi jl. J Med Genet. 1996 Oct;33(10):820-2. doi: 10.1136/jmg.33.10.820. J Med Genet. 1996. PMID: 8933333 Free PMC article.
Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients.
Casals T, Pacheco P, Barreto C, Giménez J, Ramos MD, Pereira S, Pinheiro JA, Cobos N, Curvelo A, Vázquez C, Rocha H, Séculi JL, Pérez E, Dapena J, Carrilho E, Duarte A, Palacio AM, Nunes V, Lavinha J, Estivill X. Casals T, et al. Among authors: seculi jl. Hum Mutat. 1997;10(5):387-92. doi: 10.1002/(SICI)1098-1004(1997)10:5<387::AID-HUMU9>3.0.CO;2-C. Hum Mutat. 1997. PMID: 9375855
Genotype-phenotype correlation in three homozygotes for the cystic fibrosis mutation 2183AA-->G shows a severe phenotype.
Kilinç MO, Ninis VN, Tolun A, Estivill X, Casals T, Savov A, Dagli E, Karakoç F, Demirkol M, Hüner G, Ozkinay F, Demir E, Seculi JL, Pena J, Bousono C, Ferrer-Calvete J, Calvo C, Glover G, Kremenski I. Kilinç MO, et al. Among authors: seculi jl. J Med Genet. 2000 Apr;37(4):307-9. doi: 10.1136/jmg.37.4.307. J Med Genet. 2000. PMID: 10819640 Free PMC article. No abstract available.