Molecular screening of CFTR gene in Brazilian men with bilateral agenesis of the vas deferens

References

• Anguiano A., Oates R. D., Amos J. A., Dean M., Gerrard B., Stewart C., Maher T. A., White M. B., Milunsky A. Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. JAMA The Journal of American Medical Association 1992; 267: 1794–1797
   PubMed Web of Science ®Google Scholar
• Araújo F. G., Novaes F. C., Santos N. P., Martins V. C., Souza S. M., Santos S. E., Ribeiro-dos-Santos A. K. Prevalence of DeltaF508, G551D, G542X and R553X mutations among cystic fibrosis patients in the North of Brazil. Brazilian Journal of Medical and Biological Research 2005; 38: 11–15
   PubMed Web of Science ®Google Scholar
• Bernardino A. L., Ferri A., Passos-Bueno M. R., Kim C. E., Nakaie C. M., Gomes C. E., Damaceno N., Zatz M. Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations. Genetic Testing 2000; 4: 69–74
   PubMedGoogle Scholar
• Bienvenu T. Les bases moléculaires de 1'hétérogénéité phénotypique dans la muviscidose. Annales de Biologie Clinique 1997; 55: 113–121
   PubMedGoogle Scholar
• Boat T. F., Welsh M. J. Cystic fibrosis. The Metabolic Basis of Inherited Disease 6th ed., C. R. Scriver, A. L. Beaudet, W. S. Sly, D. Valle, B. Childs, K. Kinzler, B. Vogelstein, D. Walls. McGraw-Hill, New York 1989; 2649–2680
   Google Scholar
• Cabello G. M., Moreira A. F., Horovitz D., Correia P., Santa Rosa A., Llerena J., Jr, Greg J., Grody W. W., Degrave W. M., Fernandes O., Cabello P. H. Cystic fibrosis: Low frequency of DF508 mutation in 2 population samples from Rio de Janeiro, Brazil. Human Biology 1999; 71: 189–196
   PubMed Web of Science ®Google Scholar
• Casals T., Bassas L., Egozcue S., Ramos M. D., Gimenez J., Segura A., Garcia F., Carrera M., Larriba S., Sarquella J., Estivill X. Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. Human Reproduction 2000; 15: 1476–1483
   PubMed Web of Science ®Google Scholar
• Chillon M., Casals T., Mercier B., Bassas L., Lissens W., Silber S., Romey M. C., Ruiz-Romero J., Verlingue C., Claustres M., Nunes V., Férec C., Estivill X. Mutations in the Cystic Fibrosis gene in Patients with Congenital Absence of the Vas Deferens. The New England Journal of Medicine 1995; 332: 1475–1480
   PubMed Web of Science ®Google Scholar
• Culard J. F., Desgeorges M., Costa P., Laussel M., Razakatzara G., Navratil H., Demaille J., Claustres M. Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital aplasia of epididymis or vas deferens. Human Genetics 1994; 93: 467–470
   PubMed Web of Science ®Google Scholar
• Dohle G. R., Halley D. J., Van Hemel J. O., van den Ouwel A. M., Pieters M. H., Weber R. F., Govaerts L. C. Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Human Reproduction 2002; 17: 13–16
   PubMed Web of Science ®Google Scholar
• Gervais R., Dumur V., Rigot J. M., Lafitte J. J., Roussel P., Claustres M., Demaille J. High frequency of the R117H cystic fibrosis mutation in patient with Congenital Absence of the Vas Deferens. The New England Journal of Medicine 1993; 328: 446–447
   PubMed Web of Science ®Google Scholar
• Levy E. M., Granados P., Rawe V., Olmedo S. B., Luna M. C., Cafferata E., Pivetta O. H. Mutations in CFTR gene and clinical correlation in Argentine patients with congenital bilateral absence of the vas deferens. Medicina (B Aires) 2004; 64: 213–218
   PubMed Web of Science ®Google Scholar
• Martins C. S., Ribeiro F., Costa F. F. Frequency of the cystic fibrosis DeltaF508 mutation in a population from Sao Paulo State, Brazil. Brazilian Journal of Medical Biological Research 1993; 26: 1037–1040
   PubMed Web of Science ®Google Scholar
• Müllenbach R., Lagoda P. J. L., Welter C. An efficient salt-chloroform extraction of DNA from blood and tissues. Trends in Genetics 1989; 5: 391
   PubMed Web of Science ®Google Scholar
• Orita M., Suzuki Y., Sekiya T., Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989; 5: 874–879
   PubMed Web of Science ®Google Scholar
• Osborne L. R., Lynch M., Middleton P. G., Alton E. W., Geddes D. M., Pryor J. P., Hodson M. E., Santis G. K. Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens. Human Molecular Genetics 1993; 2: 1605–1609
   PubMed Web of Science ®Google Scholar
• Phillipson G. T., Petrucco O. M., Matthews C. D. Congenital bilateral absence of the vas deferens, cystic fibrosis mutation analysis and intracytoplasmic sperm injection. Human Reproduction 2000; 15: 431–435
   PubMed Web of Science ®Google Scholar
• Raskin S., Phillips J. A., Kaplan G., McClure M., Vnencak-Jones C., Rozov T., Cardieri J. M., Marostica P., Abreu F., Giugliani R., Reis F., Rosario N. A., Ludwig N., Pereira L., Faucz F., Gabardo J., Culpi L. Geographic heterogeneity of 4 common worldwide cystic fibrosis non-DF508 mutations in Brazil. Human Biology 1999; 71: 111–121
   PubMed Web of Science ®Google Scholar
• Ravnik-Glavac M., Glavac D., Dean M. Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene. Human Molecular Genetics 1994; 3: 801–807
   PubMed Web of Science ®Google Scholar
• Streit C., Burlamaque-Neto A. C., Silva F. E., Giugliani R., Pereira M. L. S. CFTR gene: molecular analysis in patients from South Brazil. Molecular Genetics and Metabolism 2003; 78: 259–264
   PubMed Web of Science ®Google Scholar
• Wang Z., Milunsky J., Yamin M., Maher T., Oates R., Milunsky A. Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens. Human Reproduction 2002; 17: 2066–2072
   PubMed Web of Science ®Google Scholar
• Wu C. C., Hsieh-Li H. M., Lin Y. M., Chiang H. S. Cystic fibrosis transmembrane conductance regulator gene screening and clinical correlation in Taiwanese males with congenital bilateral absence of the vas deferens. Human Reproduction 2004; 19: 250–253
   PubMed Web of Science ®Google Scholar