Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Saza Mejia, Lina Maria"'
Publikováno v:
Rho J., Ahn C., Gao A., el al. Disparities in Mortality of Hipsanic Cystic Fibrosis Patients in the United States: A national and regional Cohort study. Am J Respir Crit Care Med.2018 May 9.
Catalina Vasquez, Ricardo Aristizabal WD. Fibrosis Quistica en Colombia. http://www.neumologia-pediatrica.cl
Restrepo-Gualteros SM, Navarro SM, Muñoz AM, Quevedo JP. Complicaciones pulmonares en fibrosis quística. Repert Med y Cirugía. 2016;25(1):22–32
Rodríguez-acevedo A, Morales O, Durango H, Pineda-trujillo N. Análisis de isonimia en una muestra de padres de pacientes antioqueños con fibrosis quística. Biomedica. 2012;31:139–44
P??rez MM, Luna MC, Pivetta OH, Keyeux G. CFTR gene analysis in Latin American CF patients: Heterogeneous origin and distribution of mutations across the continent. J Cyst Fibros. 2007;6(3):194–208
Geborek A, Hjelte L. Association between genotype and pulmonary phenotype in cystic fibrosis patients with severe mutations. J Cyst Fibros. European Cystic Fibrosis Society.; 2011;10(3):187–92
Mickle JE, Cutting GR. Genotype-phenotype relationships in cystic fibrosis. Med Clin North Am. 2000;84(3):597–607.
McKone EF, Emerson SS, Edwards KL, Aitken ML. Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study. Lancet (London, England). 2003;361(9370):1671–6
Davies JC, Ebdon A-M, Orchard C. Recent advances in the management of cystic fibrosis. Arch Dis Child. 2014;(Mcc):1–4
Dorfman R, Sandford A, Taylor C, Huang B, Frangolias D, Wang Y, et al. Complex two-gene modulation of lung disease severity in children with cystic fibrosis. J Clin Invest. 2008;118(3):1040–9.
Restrepo CM, Pineda L, Rojas-Martínez A, Gutiérrez CA, Morales A, Gómez Y, et al. CFTR mutations in three Latin American countries. Am J Med Genet. 2000;91(4):277–9
Ortigosa L. Fibrosis quistica. Aspectos diagnosticos. Colomb Med. 2007;38(SUPPL. 1):41–9
Farrell PM, White TB, Ren CL, Hempstead SE, Accurso F, Derichs N, et al. Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation. J Pediatr. Elsevier Inc.; 2017;181:S4–S15.e1
Lucarelli M, Bruno S, Pierandrei S, Ferraguti G. A Genotypic-Oriented View of Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis. Mol Med. 2015;21(1):257–71
Jay LM, Mateus H, Fonseca D, Restrepo CM, Keyeux G. PCR-heterodúplex por agrupamiento: Implementación de un método de identificación de portadores de la mutación más común causal de fibrosis quística en Colombia. Colomb Med. 2006;37(3):176–82
Cutting GR. Cystic fibrosis genetics: from molecular understanding to clinical application. Nat Rev Genet. Nature Publishing Group; 2015;16(1):45–56
Spoonhower KA, Davis PB. Epidemiology of Cystic Fibrosis. Clin Chest Med. Elsevier Inc; 2016;37(1):1–8
Shastri SS, Kabra M, Kabra SK, Pandey RM, Menon PSN. Characterisation of mutations and genotype-phenotype correlation in cystic fibrosis: Experience from India. J Cyst Fibros. 2008;7(2):110–5
Egan ME. Genetics of Cystic Fibrosis. Clin Chest Med. 2016;37(1):9–16
Longo DL, Stoltz D a, Meyerholz DK, Welsh MJ. Origins of Cystic Fibrosis Lung Disease. N Engl J Med. 2015;372(4):351–62.
Restrepo CM, Pineda L, Rojas-Martínez A, Gutiérrez CA, Morales A, Gómez Y, et al. CFTR mutations in three Latin American countries. Am J Med Genet. 2000;91(4):277–9.
Salcedo Posadas A, García Novo MD. Tratado de Fibrosis Quística. Praxis Pharmaceutical; 2012. 1-551 p
DANE. Nacimientos y Defunciones Cifras preliminares 2014-2015. 2015
Keyeux G, Sánchez D, Garavito P, Stand I, Rodas C, Bienvenu T, et al. Estudios moleculares en pacientes colombianos con fibrosis quística. 1997;22:167–7
Keyeux G, Rodas C, Bienvenu T, Garavito P, Vidaud D, Sanchez D, et al. CFTR mutations in patients from Colombia: implications for local and regional molecular diagnosis programs. Hum Mutat. 2003;22(July):259
Brewington J, Clancy JP. Diagnostic Testing in Cystic Fibrosis. Clin Chest Med. Elsevier Inc; 2016;37(1):31–46
Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr. 2008;153(2):S4–14
Vasquez C, Ricardo A, Daza W. Fibrosis quística en Colombia. Neum Pediat. 2010;5(1):44–5
Vasquez C, Colmenares A. Guía de Práctica Clínica Fibrosis Quística. Ministerio de Protección social; 2014. 729 p
Paranjape SM, Mogayzel Jr PJ. Cystic Fibrosis. Pediatr Rev. 2014;35(5):194–204
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Catalina Vasquez, Ricardo Aristizabal WD. Fibrosis Quistica en Colombia. http://www.neumologia-pediatrica.cl
Restrepo-Gualteros SM, Navarro SM, Muñoz AM, Quevedo JP. Complicaciones pulmonares en fibrosis quística. Repert Med y Cirugía. 2016;25(1):22–32
Rodríguez-acevedo A, Morales O, Durango H, Pineda-trujillo N. Análisis de isonimia en una muestra de padres de pacientes antioqueños con fibrosis quística. Biomedica. 2012;31:139–44
P??rez MM, Luna MC, Pivetta OH, Keyeux G. CFTR gene analysis in Latin American CF patients: Heterogeneous origin and distribution of mutations across the continent. J Cyst Fibros. 2007;6(3):194–208
Geborek A, Hjelte L. Association between genotype and pulmonary phenotype in cystic fibrosis patients with severe mutations. J Cyst Fibros. European Cystic Fibrosis Society.; 2011;10(3):187–92
Mickle JE, Cutting GR. Genotype-phenotype relationships in cystic fibrosis. Med Clin North Am. 2000;84(3):597–607.
McKone EF, Emerson SS, Edwards KL, Aitken ML. Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study. Lancet (London, England). 2003;361(9370):1671–6
Davies JC, Ebdon A-M, Orchard C. Recent advances in the management of cystic fibrosis. Arch Dis Child. 2014;(Mcc):1–4
Dorfman R, Sandford A, Taylor C, Huang B, Frangolias D, Wang Y, et al. Complex two-gene modulation of lung disease severity in children with cystic fibrosis. J Clin Invest. 2008;118(3):1040–9.
Restrepo CM, Pineda L, Rojas-Martínez A, Gutiérrez CA, Morales A, Gómez Y, et al. CFTR mutations in three Latin American countries. Am J Med Genet. 2000;91(4):277–9
Ortigosa L. Fibrosis quistica. Aspectos diagnosticos. Colomb Med. 2007;38(SUPPL. 1):41–9
Farrell PM, White TB, Ren CL, Hempstead SE, Accurso F, Derichs N, et al. Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation. J Pediatr. Elsevier Inc.; 2017;181:S4–S15.e1
Lucarelli M, Bruno S, Pierandrei S, Ferraguti G. A Genotypic-Oriented View of Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis. Mol Med. 2015;21(1):257–71
Jay LM, Mateus H, Fonseca D, Restrepo CM, Keyeux G. PCR-heterodúplex por agrupamiento: Implementación de un método de identificación de portadores de la mutación más común causal de fibrosis quística en Colombia. Colomb Med. 2006;37(3):176–82
Cutting GR. Cystic fibrosis genetics: from molecular understanding to clinical application. Nat Rev Genet. Nature Publishing Group; 2015;16(1):45–56
Spoonhower KA, Davis PB. Epidemiology of Cystic Fibrosis. Clin Chest Med. Elsevier Inc; 2016;37(1):1–8
Shastri SS, Kabra M, Kabra SK, Pandey RM, Menon PSN. Characterisation of mutations and genotype-phenotype correlation in cystic fibrosis: Experience from India. J Cyst Fibros. 2008;7(2):110–5
Egan ME. Genetics of Cystic Fibrosis. Clin Chest Med. 2016;37(1):9–16
Longo DL, Stoltz D a, Meyerholz DK, Welsh MJ. Origins of Cystic Fibrosis Lung Disease. N Engl J Med. 2015;372(4):351–62.
Restrepo CM, Pineda L, Rojas-Martínez A, Gutiérrez CA, Morales A, Gómez Y, et al. CFTR mutations in three Latin American countries. Am J Med Genet. 2000;91(4):277–9.
Salcedo Posadas A, García Novo MD. Tratado de Fibrosis Quística. Praxis Pharmaceutical; 2012. 1-551 p
DANE. Nacimientos y Defunciones Cifras preliminares 2014-2015. 2015
Keyeux G, Sánchez D, Garavito P, Stand I, Rodas C, Bienvenu T, et al. Estudios moleculares en pacientes colombianos con fibrosis quística. 1997;22:167–7
Keyeux G, Rodas C, Bienvenu T, Garavito P, Vidaud D, Sanchez D, et al. CFTR mutations in patients from Colombia: implications for local and regional molecular diagnosis programs. Hum Mutat. 2003;22(July):259
Brewington J, Clancy JP. Diagnostic Testing in Cystic Fibrosis. Clin Chest Med. Elsevier Inc; 2016;37(1):31–46
Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr. 2008;153(2):S4–14
Vasquez C, Ricardo A, Daza W. Fibrosis quística en Colombia. Neum Pediat. 2010;5(1):44–5
Vasquez C, Colmenares A. Guía de Práctica Clínica Fibrosis Quística. Ministerio de Protección social; 2014. 729 p
Paranjape SM, Mogayzel Jr PJ. Cystic Fibrosis. Pediatr Rev. 2014;35(5):194–204
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Introducción: La fibrosis quística en el país es una enfermedad rara, con un complejo proceso diagnóstico, ya que se puede confundir fácilmente o subdiagnosticar en los primeros meses de vida. El objetivo fue definir las dificultades en el proce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01582ef5105a4661a6e5f1c41f43622e
Autor:
Reina Ávila, María Fernanda *, Saza Mejía, Lina María, Guarnizo Zuccardi, Pilar del Rosario, Rengifo, Lyda, Garcés Sterling, Sandra Patricia
Publikováno v:
In Revista Colombiana de Reumatología (English Edition) July-September 2020 27(3):190-201
Autor:
Reina Ávila, María Fernanda, Saza Mejía, Lina María, Guarnizo Zuccardi, Pilar del Rosario, Rengifo, Lyda, Garcés Sterling, Sandra Patricia
Publikováno v:
In Revista Colombiana de Reumatologia July-September 2020 27(3):190-201