Associated Papers
CFTR-Related Metabolic Syndrome: Genetic Variants Increasing Pancreatitis Risk in the Pediatric Puerto Rican Population.
Meléndez-Montañez JM et al.
Children (basel, Switzerland), 2023
Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report.
Martínez-Hernández A et al.
Bmc Medical Genomics, 2019
The tumor necrosis factor α (-308 A/G) polymorphism is associated with cystic fibrosis in Mexican patients.
Sanchez-Dominguez CN et al.
Plos One, 2014
Molecular screening of the CFTR gene in Mexican patients with congenital absence of the vas deferens.
Saldaña-Alvarez Y et al.
Genetic Testing and Molecular Biomarkers, 2012
Common mutations in Cuban cystic fibrosis patients.
Collazo T et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2009
The clinical course of a Mexican female with cystic fibrosis and the novel genotype S531P/S531P.
Laguna TA et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2008
CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent.
Pérez MM et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2007
Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens--implications for newborn screening.
Kammesheidt A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.
Schrijver I et al.
The Journal of Molecular Diagnostics : Jmd, 2005
CFTR mutations in patients from Colombia: implications for local and regional molecular diagnosis programs.
Keyeux G et al.
Human Mutation, 2003
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
Bobadilla JL et al.
Human Mutation, 2002
Complete screening of the CFTR gene in Argentine cystic fibrosis patients.
Visich A et al.
Clinical Genetics, 2002
Improved detection of CFTR mutations in Southern California Hispanic CF patients.
Wong LJ et al.
Human Mutation, 2001
[Characterization of 3 microsatellites of the cystic fibrosis gene in Argentine families].
Visich AA et al.
Medicina, 2001
Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G-->A).
Orozco L et al.
Human Genetics, 2000