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terça-feira, 3 de julho de 2012

FIBROSE CISTICA ATUALIZADA 24/06/2012 bibliografia



8.
Beaudet, A., Bowcock, A., Buchwald, M., Cavalli-Sforza, L., Farrall, M., King, M.-C., Klinger, K., Lalouel, J.-M., Lathrop, G., Naylor, S., Ott, J., Tsui, L.-C., Wainwright, B., Watkins, P., Branco, R., Williamson, R.Articulação da fibrose cística para dois marcadores de DNA estreitamente ligados : relatório conjunto a partir de um estudo colaborativo. Am. Hum J.. Genet. 39:. 681-693, 1986 [PubMed: 3026171 ,citações relacionadas ] [Texto Completo: Pubget ]

9.Beaudet, AL, Feldman, GL, Fernbach, SD, buffone, GJ, O'Brien, WE desequilíbrio de ligação, fibrose cística, e aconselhamento genético. Am. Hum J.. Genet. 44:. 319-326, 1989 [PubMed: 2916578 , citações relacionadas ] [Texto Completo: Pubget ]

10.Beaudet, AL, Kazazian, HH, Jr. Declaração dos Institutos Nacionais de Saúde do Workshop sobre rastreio da população para o gene da fibrose cística. New Eng. J. Med. Chem. 323:. 70-71, 1990[PubMed: 2355964 , citações relacionadas ] [Texto Completo: Atypon , Pubget ]

11.Bilton, D., Fox, R., Webb, AK, Lawler, W., McMahon, RFT, Howat, JMT de Patologia da estenose do ducto biliar na fibrose cística. Gut 31:. 236-238, 1990 [PubMed: 2311986 , citações relacionadas ] [Texto Completo: HighWire Press , Pubget ]

12.Bird, AP . CpG ricos em ilhas ea função de metilação do DNA Nature 321: 209-213, 1986. [PubMed:2423876 e citações relacionados ] [Texto Completo: Grupo Nature Publishing , Pubget ]

13.Blanck, RR, Mendoza, EM Fecundidade em um homem com fibrose cística. JAMA 235: 1364, 1976.[PubMed: 946259related citations] [Full Text: Pubget]

14.Bois, E., Feingold, J., Demenais, F., Runavot, Y., Jehanne, M., Toudic, L. Cluster of cystic fibrosis cases in a limited area of Brittany (France). Clin. Genet. 14: 73-76, 1978. [PubMed: 688690related citations] [Full Text: Pubget]

15.Borgo, G., Cabrini, G., Mastella, G., Ronchetto, P., Devoto, M., Romeo, G. Phenotypic intrafamilial heterogeneity in cystic fibrosis. (Letter) Clin. Genet. 44: 48-49, 1993. [PubMed: 8403455related citations] [Full Text: Pubget]

16.Boucher, R. C. Status of gene therapy for cystic fibrosis lung disease. J. Clin. Invest. 103: 441-445, 1999.[PubMed: 10021450related citations] [Full Text: Journal of Clinical InvestigationPubget]

17.Boue, A., Muller, F., Nezelof, C., Oury, J. F., Duchatel, F., Dumez, Y., Aubry, M. C., Boue, J. Prenatal diagnosis in 200 pregnancies with a 1-in-4 risk of cystic fibrosis. Hum. Genet. 74: 288-297, 1986.[PubMed: 3536726related citations] [Full Text: Pubget]

18.Bowcock, A. M., Crandall, J., Daneshvar, L., Lee, G. M., Young, B., Zunzunegui, V., Craik, C., Cavalli-Sforza, L. L., King, M.-C. Genetic analysis of cystic fibrosis: linkage of DNA and classical markers in multiplex families. Am. J. Hum. Genet. 39: 699-706, 1986. [PubMed: 3026172related citations] [Full Text:Pubget]

19.Boyne, J., Evans, S., Pollitt, R. J., Taylor, C. J., Dalton, A. Many delta-F508 heterozygote neonates with transient hypertrypsinaemia have a second, mild CFTR mutation. (Letter) J. Med. Genet. 37: 543-547, 2000. [PubMed: 10970190related citations] [Full Text: HighWire PressPubget]

20.Bradbury, N. A., Jilling, T., Berta, G., Sorscher, E. J., Bridges, R. J., Kirk, K. L. Regulation of plasma membrane recycling by CFTR. Science 256: 530-532, 1992. [PubMed: 1373908related citations] [Full Text:HighWire PressPubget]

21.Bremer, L. A., Blackman, S. M., Vanscoy, L. L., McDougal, K. E., Bowers, A., Naughton, K. M., Cutler, D. J., Cutting, G. R. Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis. Hum. Molec. Genet. 17: 2228-2237, 2008. [PubMed: 18424453,related citations] [Full Text: HighWire PressPubget]

22.Breslow, J. L., Epstein, J., Fontaine, J. H., Forbes, G. B. Enhanced dexamethasone resistance in cystic fibrosis cells: potential use for heterozygote detection and prenatal diagnosis. Science 201: 180-182, 1978. [PubMed: 663650related citations] [Full Text: HighWire PressPubget]

23.Breslow, J. L., McPherson, J., Epstein, J. Distinguishing homozygous and heterozygous cystic fibrosis fibroblasts from normal cells by differences in sodium transport. New Eng. J. Med. 304: 1-5, 1981.[PubMed: 7432432related citations] [Full Text: AtyponPubget]

24.Brock, D. J. H., Gilfillan, A., Holloway, S. The incidence of cystic fibrosis in Scotland calculated from heterozygote frequencies. Clin. Genet. 53: 47-49, 1998. [PubMed: 9550361related citations] [Full Text:Blackwell PublishingPubget]

25.Brock, D. J. H., Hayward, C., Super, M. Controlled trial of serum isoelectric focusing in the detection of the cystic fibrosis gene. Hum. Genet. 60: 30-31, 1982. [PubMed: 7076245related citations] [Full Text:Pubget]

26.Brown, W. R., Bird, A. P. Long-range restriction site mapping of mammalian genomic DNA. Nature 322: 477-481, 1986. [PubMed: 3016554related citations] [Full Text: Nature Publishing GroupPubget]

27.Brusilow, S. W. Cystic fibrosis in adults. Annu. Rev. Med. 21: 99-104, 1970. [PubMed: 4912478related citations] [Full Text: AtyponPubget]

28.Buchwald, M., Zsiga, M., Markiewicz, D., Plavsic, N., Kennedy, D., Zengerling, S., Willard, H. F., Tsipouras, P., Schmiegelow, K., Schwartz, M., Eiberg, H., Mohr, J., Barker, D., Donis-Keller, H., Tsui, L.-C. Linkage of cystic fibrosis to the pro-alpha2(I) collagen gene, COL1A2, on chromosome 7. Cytogenet. Cell Genet. 41: 234-239, 1986. [PubMed: 3011363related citations] [Full Text: Pubget]

29.Bullock, S., Hayward, C., Manson, J., Brock, D. J. H., Raeburn, J. A. Quantitative immunoassays for diagnosis and carrier detection in cystic fibrosis. Clin. Genet. 21: 336-341, 1982. [PubMed: 7116678,related citations] [Full Text: Pubget]

30.Bulmer, M. G. Fibrocystic disease of the pancreas: a comment. Ann. Hum. Genet. 25: 163-164, 1961.[PubMed: 13874624related citations] [Full Text: Pubget]

31.Buranawuti, K., Boyle, M. P., Cheng, S., Steiner, L. L., McDougal, K., Fallin, M. D., Merlo, C., Zeitlin, P. L., Rosenstein, B. J., Mogayzel, P. J., Jr., Wang, X., Cutting, G. R. Variants in mannose-binding lectin and tumour necrosis factor alpha affect survival in cystic fibrosis. J. Med. Genet. 44: 209-214, 2007.[PubMed: 17158822related citations] [Full Text: HighWire PressPubget]

32.Campbell, K. H. S., McWhir, J., Ritchie, W. A., Wilmut, I. Sheep cloned by nuclear transfer from a cultured cell line. Nature 380: 64-66, 1996. [PubMed: 8598906related citations] [Full Text: Nature Publishing GroupPubget]

33.Castellani, C., Benetazzo, M. G., Tamanini, A., Begnini, A., Mastella, G., Pignatti, P. Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in neonatal hypertrypsinaemia with normal sweat test. (Letter) J. Med. Genet. 38: 202-205, 2001. [PubMed: 11303517related citations] [Full Text: HighWire PressPubget]

34.Cattanach, B. M., Kirk, M. Differential activity of maternally and paternally derived chromosome regions in mice. Nature 315: 496-498, 1985. [PubMed: 4000278related citations] [Full Text: Pubget]

35.Cavenee, W., Leach, R., Mohandas, T., Pearson, P., White, R. Isolation and regional localization of DNA segments revealing polymorphic loci from human chromosome 13. Am. J. Hum. Genet. 36: 10-24, 1984. [PubMed: 6320640related citations] [Full Text: Pubget]

36.Cheadle, J., Al-Jader, L., Goodchild, M., Meredith, A. L. Mild pulmonary disease in a cystic fibrosis child homozygous for R553X. J. Med. Genet. 29: 597, 1992. [PubMed: 1518030related citations] [Full Text:HighWire PressPubget]

37.Cheadle, J. P., Meredith, A. L., Al-Jader, L. N. A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene. Hum. Molec. Genet. 1: 123-125, 1992.[PubMed: 1284468related citations] [Full Text: HighWire PressPubget]

38.Chen, J.-H., Stoltz, D. A., Karp, P. H., Ernst, S. E., Pezzulo, A. A., Moninger, T. O., Rector, M. V., Reznikov, L. R., Launspach, J. L., Chaloner, K., Zabner, J., Welsh, M. J. Loss of anion transport without increased sodium absorption characterizes newborn porcine cystic fibrosis airway epithelia. Cell 143: 911-923, 2010. [PubMed: 21145458related citations] [Full Text: Elsevier SciencePubget]

39.Clarke, L. L., Grubb, B. R., Gabriel, S. E., Smithies, O., Koller, B. H., Boucher, R. C. Defective epithelial chloride transport in a gene-targeted mouse model of cystic fibrosis. Science 257: 1125-1128, 1992.[PubMed: 1380724related citations] [Full Text: HighWire PressPubget]

40.Cleghorn, G. J., Stringer, D. A., Forstner, G. G., Durie, P. R. Treatment of distal intestinal obstruction syndrome in cystic fibrosis with a balanced intestinal lavage solution. Lancet 327: 8-11, 1986. Note: Originally Volume 1. [PubMed: 2867297related citations] [Full Text: Elsevier SciencePubget]

41.Cohn, J. A., Friedman, K. J., Noone, P. G., Knowles, M. R., Silverman, L. M., Jowell, P. S. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. New Eng. J. Med. 339: 653-658, 1998.[PubMed: 9725922related citations] [Full Text: AtyponPubget]

42.Coleman, F. T., Mueschenborn, S., Meluleni, G., Ray, C., Carey, V. J., Vargas, S. O., Cannon, C. L., Ausubel, F. M., Pier, G. B. Hypersusceptibility of cystic fibrosis mice to chronic Pseudomonas aeruginosa oropharyngeal colonization and lung infection. Proc. Nat. Acad. Sci. 100: 1949-1954, 2003. [PubMed:12578988related citations] [Full Text: HighWire PressPubget]

43.Colledge, W. H., Abella, B. S., Southern, K. W., Ratcliff, R., Jiang, C., Cheng, S. H., MacVinish, L. J., Anderson, J. R., Cuthbert, A. W., Evans, M. J. Generation and characterisation of a delta-F508 cystic fibrosis mouse model. Nature Genet. 10: 445-452, 1995. [PubMed: 7545494related citations] [Full Text:Nature Publishing GroupPubget]

44.Colledge, W. H., Ratcliff, R., Foster, D., Williamson, R., Evans, M. J. Cystic fibrosis mouse with intestinal obstruction. (Letter) Lancet 340: 680 only, 1992. [PubMed: 1355249related citations] [Full Text: Pubget]

45.Collins, A., Morton, N. E. Mapping a disease locus by allelic association. Proc. Nat. Acad. Sci. 95: 1741-1745, 1998. [PubMed: 9465087related citations] [Full Text: HighWire PressPubget]

46.Collins, F. S. Cystic fibrosis: molecular biology and therapeutic implications. Science 256: 774-779, 1992. [PubMed: 1375392related citations] [Full Text: HighWire PressPubget]

47.Colten, H. R. Screening for cystic fibrosis.(Editorial) New Eng. J. Med. 322: 328-329, 1990. [PubMed:2296274related citations] [Full Text: AtyponPubget]

48.Corey, M., Durie, P., Moore, D., Forstner, G., Levison, H. Familial concordance of pancreatic function in cystic fibrosis. J. Pediat. 115: 274-277, 1989. [PubMed: 2754556related citations] [Full Text: Pubget]

49.Crystal, R. G., McElvaney, N. G., Rosenfeld, M. A., Chu, C.-S., Mastrangeli, A., Hay, J. G., Brody, S. L., Jaffe, H. A., Eissa, N. T., Danel, C. Administration of an adenovirus containing the human CFTR cDNA to the respiratory tract of individuals with cystic fibrosis. Nature Genet. 8: 42-51, 1994. [PubMed:7527271related citations] [Full Text: Nature Publishing GroupPubget]

50.Curnow, R. N. Carrier risk calculations for recessive diseases when not all the mutant alleles are detectable. Am. J. Med. Genet. 52: 108-114, 1994. [PubMed: 7977452related citations] [Full Text: Pubget]

51.Curtis, A., Nelson, R., Porteous, M., Burn, J., Bhattacharya, S. S. Association of less common cystic fibrosis mutations with a mild phenotype. J. Med. Genet. 28: 34-37, 1991. [PubMed: 1999830related citations] [Full Text: HighWire PressPubget]

52.Cutting, G. R., Antonarakis, S. E., Buetow, K. H., Kasch, L. M., Rosenstein, B. J., Kazazian, H. H., Jr.Analysis of DNA polymorphism haplotypes linked to the cystic fibrosis locus in North American black and Caucasian families supports the existence of multiple mutations of the cystic fibrosis gene. Am. J. Hum. Genet. 44: 307-318, 1989. [PubMed: 2563631related citations] [Full Text: Pubget]

53.Cutting, G. R., Curristin, S. M., Nash, E., Rosenstein, B. J., Lerer, I., Abeliovich, D., Hill, A., Graham, C.Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians. Am. J. Hum. Genet. 50: 1185-1194, 1992. [PubMed: 1376017related citations] [Full Text: Pubget]

54.Danes, B. S., Bearn, A. G. A genetic cell marker in cystic fibrosis of the pancreas. Lancet 291: 1061-1063, 1968. Note: Originally Volume 1. [PubMed: 4171744related citations] [Full Text: Pubget]

55.Danes, B. S., Bearn, A. G. Cystic fibrosis of the pancreas. A study in cell culture. J. Exp. Med. 129: 775-794, 1969. [PubMed: 4237349related citations] [Full Text: Pubget]

56.Danes, B. S., Bearn, A. G. Localisation of the cystic-fibrosis gene. (Letter) Lancet 292: 1303 only, 1968. Note: Originally Volume 2. [PubMed: 4177507related citations] [Full Text: Pubget]

57.Danes, B. S., Bearn, A. G. Cystic fibrosis: an improved method for studying white blood-cells in culture. (Letter) Lancet 294: 437 only, 1969. Note: Originally Volume 2. [PubMed: 4184515related citations] [Full Text: Pubget]

58.Danes, B. S., Bearn, A. G. Cystic fibrosis: distribution of mucopolysaccharides in fibroblast cultures.Biochem. Biophys. Res. Commun. 36: 919-924, 1969. [PubMed: 4186555related citations] [Full Text: Elsevier SciencePubget]

59.Danes, B. S., Beck, B., Flensborg, E. W. Cystic fibrosis: cell culture classes in a Danish population. Clin. Genet. 13: 327-334, 1978. [PubMed: 657572related citations] [Full Text: Pubget]

60.Danes, B. S., Hodson, M. E., Batten, J. Cystic fibrosis: evidence for a genetic compound from a family study in cell culture. Clin. Genet. 11: 83-90, 1977. [PubMed: 837566related citations] [Full Text: Pubget]

61.Dankert-Roelse, J. E., te Meerman, G. J. Screening for cystic fibrosis--time to change our position? (Editorial) New Eng. J. Med. 337: 997-999, 1997. [PubMed: 9309107related citations] [Full Text: Atypon,Pubget]

62.Danks, D. M., Allan, J., Anderson, C. M. A genetic study of fibrocystic disease of the pancreas. Ann. Hum. Genet. 28: 323-356, 1965.

63.Danks, D. M., Allan, J., Phelan, P. D., Chapman, C. Mutations at more than one locus may be involved in cystic fibrosis--evidence based on first-cousin data and direct counting of cases. Am. J. Hum. Genet. 35: 838-844, 1983. Note: Retraction: Am. J. Hum. Genet. 36: 1401-1402, 1984. [PubMed: 6351603,related citations] [Full Text: Pubget]

64.Davies, J., Neth, O., Alton, E., Klein, N., Turner, M. Differential binding of mannose-binding lectin to respiratory pathogens in cystic fibrosis. Lancet 355: 1885-1886, 2000. [PubMed: 10866448related citations] [Full Text: Elsevier SciencePubget]

65.Dean, M. Resolving DNA mutations. Nature Genet. 9: 103-104, 1995. [PubMed: 7719330related citations] [Full Text: Nature Publishing GroupPubget]

66.de Becdelievre, A., Costa, C., Jouannic, J.-M., LeFloch, A., Giurgea, I., Martin, J., Medina, R., Boissier, B., Gameiro, C., Muller, F., Goossens, M., Alberti, C., Girodon, E. Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy. Hum. Genet. 129: 387-396, 2011. [PubMed: 21184098related citations] [Full Text: SpringerPubget]

67.Dequeker, E., Stuhrmann, M., Morris, M. A., Casals, T., Castellani, C., Claustres, M., Cuppens, H., des Georges, M., Ferec, C., Macek, M., Pignatti, P.-F., Scheffer, H., Schwartz, M., Witt, M., Schwarz, M., Girodon, E. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. Europ. J. Hum. Genet. 17: 51-65, 2009.[PubMed: 18685558related citations] [Full Text: Nature Publishing GroupPubget]

68.De Rose, V., Arduino, C., Cappello, N., Piana, R., Salmin, P., Bardessono, M., Goia, M., Padoan, R., Bignamini, E., Costantini, D., Pizzamiglio, G., Bennato, V., Colombo, C., Giunta, A., Piazza, A. Fc-gamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis.Europ. J. Hum. Genet. 13: 96-101, 2005. [PubMed: 15367919related citations] [Full Text: Nature Publishing GroupPubget]

69.Devoto, M., De Benedetti, L., Seia, M., Piceni Sereni, L., Ferrari, M., Bonduelle, M. L., Malfroot, A., Lissens, W., Balassopoulou, A., Adam, G., Loukopoulos, D., Cochaux, P., Vassart, G., Szibor, R., Hein, J., Grade, K., Berger, W., Wainwright, B., Romeo, G. Haplotypes in cystic fibrosis patients with or without pancreatic insufficiency from four European populations. Genomics 5: 894-898, 1989. [PubMed:2574150related citations] [Full Text: Pubget]

70.Devoto, M., Ronchetto, P., Fanen, P., Orriols, J. J. T., Romeo, G., Goossens, M., Ferrari, M., Magnani, C., Seia, M., Cremonesi, L. Screening for non-delta-F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy. Am. J. Hum. Genet. 48: 1127-1132, 1991.[PubMed: 1709778related citations] [Full Text: Pubget]

71.de Vries, H. G., Collee, J. M., de Walle, H. E. K., van Veldhuizen, M. H. R., Smit Sibinga, C. T., Scheffer, H., ten Kate, L. P. Prevalence of delta-F508 cystic fibrosis carriers in The Netherlands: logistic regression on sex, age, region of residence and number of offspring. Hum. Genet. 99: 74-79, 1997. [PubMed:9003498related citations] [Full Text: SpringerPubget]

72.Di Sant'Agnese, P. A., Davis, P. B. Research in cystic fibrosis. New Eng. J. Med. 295: 481-485, and 534-541, and 597-602, 1976. [PubMed: 781537related citations] [Full Text: AtyponPubget]

73.Di Sant'Agnese, P. A., Davis, P. B. Cystic fibrosis in adults: 75 cases and a review of 232 cases in the literature. Am. J. Med. 66: 121-132, 1979. [PubMed: 420238related citations] [Full Text: Pubget]

74.Di Sant'Agnese, P. A., Talamo, R. C. Pathogenesis and physiopathology of cystic fibrosis of the pancreas: fibrocystic disease of the pancreas (muco-viscidosis). New Eng. J. Med. 277: 1287-1294 and 1344-1352, 1967. [PubMed: 4864201related citations] [Full Text: AtyponPubget]

75.Dorfman, R., Sandford, A., Taylor, C., Huang, B., Frangolias, D., Wang, Y., Sang, R., Pereira, L., Sun, L., Berthiaume, Y., Tsue, L.-C., Pare, P. D., Durie, P., Corey, M., Zielenski, J. Complex two-gene modulation of lung disease severity in children with cystic fibrosis. J. Clin. Invest. 118: 1040-1049, 2008. [PubMed:18292811related citations] [Full Text: Journal of Clinical InvestigationPubget]

76.Dorin, J. R., Dickinson, P., Alton, E. W. F. W., Smith, S. N., Geddes, D. M., Stevenson, B. J., Kimber, W. L., Fleming, S., Clarke, A. R., Hooper, M. L., Anderson, L., Beddington, R. S. P., Porteous, D. J. Cystic fibrosis in the mouse by targeted insertional mutagenesis. Nature 359: 211-215, 1992. [PubMed: 1382232,related citations] [Full Text: Nature Publishing GroupPubget]

77.Dorin, J. R., Stevenson, B. J., Fleming, S., Alton, E. W. F. W., Dickinson, P., Porteous, D. J. Long-term survival of the exon 10 insertional cystic fibrosis mutant mouse is a consequence of low level residual wild-type Cftr gene expression. Mammalian Genome 5: 465-472, 1994. [PubMed: 7949729,related citations] [Full Text: Pubget]

78.Dork, T., El-Harith, E.-H. A., Stuhrmann, M., Macek, M., Jr., Egan, M., Cutting, G. R., Tzetis, M., Kanavakis, E., Carles, S., Claustres, M., Padoa, C., Ramsay, M., Schmidtke, J. Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-to-A in diverse populations. (Letter) Am. J. Hum. Genet. 63: 656-662, 1998. [PubMed: 9683582related citations] [Full Text: Elsevier SciencePubget]

79.Dork, T., Wulbrand, U., Richter, T., Neumann, T., Wolfes, H., Wulf, B., Maass, G., Tummler, B. Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene.Hum. Genet. 87: 441-446, 1991. [PubMed: 1715308related citations] [Full Text: Pubget]

80.Drumm, M. L., Konstan, M. W., Schluchter, M. D., Handler, A., Pace, R., Zou, F., Zariwala, M., Fargo, D., Xu, A., Dunn, J. M., Darrah, R. J., and 9 others. Genetic modifiers of lung disease in cystic fibrosis. New Eng. J. Med. 353: 1443-1453, 2005. [PubMed: 16207846related citations] [Full Text: AtyponPubget]

81.Dumur, V., Lafitte, J. J., Gervais, R., Debaecker, D., Kesteloot, M., Lalau, G., Roussel, P. Abnormal distribution of cystic fibrosis delta-F508 allele in adults with chronic bronchial hypersecretion.Lancet 335: 1340, 1990. [PubMed: 1971393related citations] [Full Text: Elsevier SciencePubget]

82.Duncan, A. M. V., Buchwald, M., Tsui, L.-C. In situ hybridization of two cloned chromosome 7 sequences tightly linked to the cystic fibrosis locus. Cytogenet. Cell Genet. 49: 309-310, 1988. [PubMed:3248389related citations] [Full Text: Pubget]

83.Edwards, J. H., Jonasson, J. A., Blackwell, N. L. Locus for cystic fibrosis. (Letter) Lancet 323: 1020 only, 1984. Note: Originally Volume 1. [PubMed: 6143942related citations] [Full Text: Pubget]

84.Edwards, J. H., Miciak, A. The slash sheet: a simple procedure for risk analysis in cystic fibrosis. (Letter) Am. J. Hum. Genet. 47: 1024-1028, 1990. [PubMed: 2239967related citations] [Full Text: Pubget]

85.Egan, M. E., Pearson, M., Weiner, S. A., Rajendran, V., Rubin, D., Glockner-Pagel, J., Canny, S., Du, K., Lukacs, G. L., Caplan, M. J. Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects.Science 304: 600-602, 2004. [PubMed: 15105504related citations] [Full Text: HighWire PressPubget]

86.Eiberg, H., Mohr, J., Nielsen, L. S. Linkage relationships of human coagulation factor XIIIB. (Abstract)Cytogenet. Cell Genet. 37: 463 only, 1984.

87.Eiberg, H., Mohr, J., Schmiegelow, K., Nielsen, L. S., Williamson, R. Linkage relationships of paraoxonase (PON) with other markers: indication of PON-cystic fibrosis synteny. Clin. Genet. 28: 265-271, 1985.[PubMed: 2998653related citations] [Full Text: Pubget]

88.Eiberg, H., Schmiegelow, K., Koch, C., Mohr, J., Schwartz, M., Niebuhr, E. Cystic fibrosis; hint of linkage with F13B. Clin. Genet. 27: 206, 1985. [PubMed: 3856494related citations] [Full Text: Pubget]

89.Eiberg, H., Schmiegelow, K., Tsui, L.-C., Buchwald, M., Niebuhr, E., Phelan, P. D., Williamson, R., Warwick, W., Koch, C., Mohr, J. Cystic fibrosis, linkage with PON. (Abstract) Cytogenet. Cell Genet. 40: 623, 1985.

90.El-Harith, E.-H. A., Stuhrmann, M., Dork, T., Eskandarani, H. A., Schmidtke, J. PCR-based analysis of cystic fibrosis mutations specific for Saudi patients. Saudi Med. J. 19: 148-152, 1998.

91.Engel, E. A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am. J. Med. Genet. 6: 137-143, 1980. [PubMed: 7192492related citations] [Full Text: Pubget]

92.Engelhardt, J. F., Yankaskas, J. R., Wilson, J. M. In vivo retroviral gene transfer into human bronchial epithelia of xenografts. J. Clin. Invest. 90: 2598-2607, 1992. [PubMed: 1281842related citations] [Full Text:Journal of Clinical InvestigationPubget]

93.Ernst, R. K., Yi, E. C., Guo, L., Lim, K. B., Burns, J. L., Hackett, M., Miller, S. I. Specific lipopolysaccharide found in cystic fibrosis airway Pseudomonas aeruginosa. Science 286: 1561-1565, 1999. [PubMed:10567263related citations] [Full Text: HighWire PressPubget]

94.Estivill, X., Chillon, M., Casals, T., Bosch, A., Morral, N., Nunes, V., Gasparini, P., Seia, A., Pignatti, P. F., Novelli, G., Dallapiccola, B., Fernandez, E., Benitez, J., Williamson, R. Delta-F508 gene deletion in cystic fibrosis in Southern Europe. (Letter) Lancet 334: 1404-1405, 1989. Note: Originally Volume 2. [PubMed:2574355related citations] [Full Text: Pubget]

95.Estivill, X., Farrall, M., Scambler, P. J., Bell, G. M., Hawley, K. M. F., Lench, N. J., Bates, G. P., Kruyer, H. C., Frederick, P. A., Stanier, P., Watson, E. K., Williamson, R., Wainwright, B. J. A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands. Nature 326: 840-845, 1987. [PubMed:2883581related citations] [Full Text: Nature Publishing GroupPubget]

96.Estivill, X., Farrall, M., Williamson, R., Ferrari, M., Seia, M., Giunta, A. M., Novelli, G., Potenza, L., Dallapicolla, B., Borgo, G., Gasparini, P., Pignatti, P. F., De Benedetti, L., Vitale, E., Devoto, M., Romeo, G.Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study. Am. J. Hum. Genet. 43: 23-28, 1988. [PubMed: 2897786related citations] [Full Text:Pubget]

97.European Working Group on CF Genetics. Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. Hum. Genet. 85: 436-445, 1990. [PubMed: 2210767related citations] [Full Text: Pubget]

98.Fajac, I., Viel, M., Sublemontier, S., Hubert, D., Bienvenu, T. Could a defective epithelial sodium channel lead to bronchiectasis. Respir. Res. 9: 46, 2008. Note: Electronic Article. [PubMed: 18507830related citations] [Full Text: BioMed CentralPubget]

99.Fanen, P., Ghanem, N., Vidaud, M., Besmond, C., Martin, J., Costes, B., Plassa, F., Goossens, M. Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.Genomics 13: 770-776, 1992. [PubMed: 1379210related citations] [Full Text: Elsevier SciencePubget]

100.Farrall, M., Law, H.-Y., Rodeck, C. H., Warren, R., Stanier, P., Super, M., Lissens, W., Scambler, P., Watson, E., Wainwright, B., Williamson, R. First-trimester prenatal diagnosis of cystic fibrosis with linked DNA probes. Lancet 327: 1402-1405, 1986. Note: Originally Volume 1. [PubMed: 2872515related citations] [Full Text: Pubget]

101.Farrall, M., Scambler, P., Klinger, K. W., Davies, K., Worrall, C., Williamson, R., Wainwright, B. Cystic fibrosis carrier detection using a linked gene probe. J. Med. Genet. 23: 295-299, 1986. [PubMed:3018247related citations] [Full Text: HighWire PressPubget]

102.Farrall, M., Scambler, P., North, P., Williamson, R. The analysis of multiple polymorphic loci on a single human chromosome to exclude linkage to inherited disease: cystic fibrosis and chromosome 4. Am. J. Hum. Genet. 38: 75-83, 1986. [PubMed: 3004205related citations] [Full Text: Pubget]

103.Farrall, M., Watson, E., Bates, G., Bell, G., Bell, J., Davies, K. A., Estivill, X., Kruyer, H., Law, H.-Y., Lench, N., Lissens, W., Simon, P., Scambler, P., Stanier, P., Vassart, G., Worrall, C., Williamson, R., Wainwright, B. J. Further data supporting linkage between cystic fibrosis and the met oncogene and haplotype analysis with met and pJ3.11. Am. J. Hum. Genet. 39: 713-719, 1986. [PubMed: 3467586related citations] [Full Text: Pubget]

104.Farrell, P. M., Kosorok, M. R., Laxova, A., Shen, G., Koscik, R. E., Bruns, W. T., Splaingard, M., Mischler, E. H. Nutritional benefits of neonatal screening for cystic fibrosis. New Eng. J. Med. 337: 963-969, 1997.[PubMed: 9395429related citations] [Full Text: AtyponPubget]

105.Farrell, P. M., Kosorok, M. R., Rock, M. J., Laxova, A., Zeng, L., Lai, H.-C., Hoffman, G., Laessig, R. H., Splaingard, M. L., Wisconsin Cystic Fibrosis Neonatal Screening Study Group. Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth.Pediatrics 107: 1-12, 2001. [PubMed: 11134427related citations] [Full Text: HighWire PressPubget]

106.Ferec, C., Audrezet, M. P., Mercier, B., Guillermit, H., Moullier, P., Quere, I., Verlingue, C. Detection of over 98% cystic fibrosis mutations in a Celtic population. Nature Genet. 1: 188-191, 1992. [PubMed:1284639related citations] [Full Text: Nature Publishing GroupPubget]

107.Ferrari, M., Antonelli, M., Bellini, F., Borgo, G., Castiglione, O., Curcio, L., Dallapiccola, B., Devoto, M., Estivill, X., Gasparini, P., Giunta, A., Marianelli, L., Mastella, G., Novelli, G., Pignatti, P., Romano, L., Romeo, G., Seia, M., Williamson, R. Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency: an Italian collaborative study. Hum. Genet. 84: 435-438, 1990. [PubMed: 2323776related citations] [Full Text: Pubget]

108.FitzSimmons, S. C., Burkhart, G. A., Borowitz, D., Grand, R. J., Hammerstrom, T., Durie, P. R., Lloyd-Still, J. D., Lowenfels, A. B. High-dose pancreatic-enzyme supplements and fibrosing colonopathy in children with cystic fibrosis. New Eng. J. Med. 336: 1283-1289, 1997. [PubMed: 9113931related citations] [Full Text: AtyponPubget]

109.Freedman, S. D., Blanco, P. G., Zaman, M. M., Shea, J. C., Ollero, M., Hopper, I. K., Weed, D. A., Gelrud, A., Regan, M. M., Laposata, M., Alvarez, J. G., O'Sullivan, B. P. Association of cystic fibrosis with abnormalities in fatty acid metabolism. New Eng. J. Med. 350: 560-569, 2004. [PubMed: 14762183,related citations] [Full Text: AtyponPubget]

110.Frizzell, R. A. Cystic fibrosis: a disease of ion channels? Trends Neurosci. 10: 190-193, 1987.

111.Frydman, M. I. Epidemiology of cystic fibrosis: a review. J. Chronic Dis. 32: 211-219, 1979. [PubMed:372201related citations] [Full Text: Pubget]

112.Fujiwara, T. M., Morgan, K., Schwartz, R. H., Doherty, R. A., Miller, S. R., Klinger, K., Stanislovitis, P., Stuart, N., Watkins, P. C. Genealogical analysis of cystic fibrosis families and chromosome 7q RFLP haplotypes in the Hutterite brethren. Am. J. Hum. Genet. 44: 327-337, 1989. [PubMed: 2563632related citations] [Full Text: Pubget]

113.Gabolde, M., Hubert, D., Guilloud-Bataille, M., Lenaerts, C., Feingold, J., Besmond, C. The mannose binding lectin gene influences the severity of chronic liver disease in cystic fibrosis. J. Med. Genet. 38: 310-311, 2001. [PubMed: 11333866related citations] [Full Text: HighWire PressPubget]

114.Gabriel, S. E., Brigman, K. N., Koller, B. H., Boucher, R. C., Stutts, M. J. Cystic fibrosis heterozygote resistance to cholera toxin in cystic fibrosis mouse model. Science 266: 107-109, 1994. [PubMed:7524148related citations] [Full Text: HighWire PressPubget]

115.Garred, P., Pressler, T., Madsen, H. O., Frederiksen, B., Svejgaard, A., Hoiby, N., Schwartz, M., Koch, C.Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis. J. Clin. Invest. 104: 431-437, 1999. [PubMed: 10449435related citations] [Full Text: Journal of Clinical InvestigationPubget]

116.Gaskin, K. J., Waters, D. L. M., Howman-Giles, R., de Silva, M., Earl, J. W., Martin, H. C. O., Kan, A. E., Brown, J. M., Dorney, S. F. A. Liver disease and common-bile-duct stenosis in cystic fibrosis. New Eng. J. Med. 318: 340-346, 1988. [PubMed: 3340104related citations] [Full Text: AtyponPubget]

117.Gasparini, P., Novelli, G., Estivill, X., Olivieri, D., Savoia, A., Ruzzo, A., Nunes, V., Borgo, G., Antonelli, M., Williamson, R., Pignatti, P. F., Dallapiccola, B. The genotype of a new linked DNA marker, MP6d-9, is related to the clinical course of cystic fibrosis. J. Med. Genet. 27: 17-20, 1990. [PubMed: 1968514related citations] [Full Text: HighWire PressPubget]

118.Goodchild, M. C., Edwards, J. H., Glenn, K. P., Grindey, C., Harris, R., Mackintosh, P., Wentzel, L. A search for linkage in cystic fibrosis. J. Med. Genet. 13: 417-419, 1976. [PubMed: 1018300related citations] [Full Text: HighWire PressPubget]

119.Groman, J. D., Meyer, M. E., Wilmott, R. W., Zeitlin, P. L., Cutting, G. R. Variant cystic fibrosis phenotypes in the absence of CFTR mutations. New Eng. J. Med. 347: 401-407, 2002. [PubMed:12167682related citations] [Full Text: AtyponPubget]

120.Gu, Y., Harley, I. T. W., Henderson, L. B., Aronow, B. J., Vietor, I., Huber, L. A., Harley, J. B., Kilpatrick, J. R., Langefeld, C. D., Williams, A. H., Jegga, A. G., Chen, J., and 11 others. Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease. Nature 458: 1039-1042, 2009. [PubMed: 19242412related citations] [Full Text: Nature Publishing GroupPubget]

121.Hammond, K. B., Abman, S. H., Sokol, R. J., Accurso, F. J. Efficacy of statewide neonatal screening for cystic fibrosis by assay of trypsinogen concentrations. New Eng. J. Med. 325: 769-774, 1991. [PubMed:1870650related citations] [Full Text: AtyponPubget]

122.Handyside, A. H., Lesko, J. G., Tarin, J. J., Winston, R. M. L., Hughes, M. R. Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. New Eng. J. Med. 327: 905-909, 1992. [PubMed: 1381054related citations] [Full Text: AtyponPubget]

123.Hansson, G. C. Cystic fibrosis and chloride-secreting diarrhoea. (Letter) Nature 333: 711, 1988.[PubMed: 2455229related citations] [Full Text: Nature Publishing GroupPubget]

124.Hardin, D. S., Adams-Huet, B., Brown, D., Chatfield, B., Dyson, M., Ferkol, T., Howenstine, M., Prestidge, C., Royce, F., Rice, J., Seilheimer, D. K., Steelman, J., Shepherds, R. Growth hormone treatment improves growth and clinical status in prepubertal children with cystic fibrosis: results of a multicenter randomized controlled trial. J. Clin. Endocr. Metab. 91: 4925-4929, 2006. [PubMed: 17018651related citations] [Full Text: HighWire PressPubget]

125.Harmon, G. S., Dumlao, D. S., Ng, D. T., Barrett, K. E., Dennis, E. A., Dong, H., Glass, C. K.Pharmacological correction of a defect in PPAR-gamma signaling ameliorates disease severity in Cftr-deficient mice. Nature Med. 16: 313-318, 2010. [PubMed: 20154695related citations] [Full Text:Nature Publishing GroupPubget]

126.Harris, A. Towards an ovine model of cystic fibrosis. Hum. Molec. Genet. 6: 2191-2193, 1997. [PubMed:9361022related citations] [Full Text: HighWire PressPubget]

127.Harris, A., Quinlan, C., Bobrow, M. Cystic fibrosis typing with DNA probes: experience of a screening laboratory. Hum. Genet. 79: 76-79, 1988. [PubMed: 2896624related citations] [Full Text: Pubget]

128.Harris, R. L., Riley, H. D., Jr. Cystic fibrosis in the American Indian. Pediatrics 41: 733-738, 1968.[PubMed: 5643981related citations] [Full Text: Pubget]

129.Hill, A. J. M., Graham, C. A., Kelly, E. D., Morrison, P. J., Nevin, N. C. Linkage disequilibrium and CF allele segregation analysis in cystic fibrosis families in Northern Ireland. Hum. Genet. 83: 391-394, 1989. [PubMed: 2572538related citations] [Full Text: Pubget]

130.Hodge, S. E., Lebo, R. V., Yesley, A. R., Cheney, S. M., Angle, H., Milunsky, J. Calculating posterior cystic fibrosis risk with echogenic bowel and one characterized cystic fibrosis mutation: avoiding pitfalls in the risk calculations. Am. J. Med. Genet. 82: 329-335, 1999. [PubMed: 10051167related citations] [Full Text: John Wiley & Sons, Inc.Pubget]

131.Hogenauer, C., Santa Ana, C. A., Porter, J. L., Millard, M., Gelfand, A., Rosenblatt, R. L., Prestidge, C. B., Fordtran, J. S. Active intestinal chloride secretion in human carriers of cystic fibrosis mutations: an evaluation of the hypothesis that heterozygotes have subnormal active intestinal chloride secretion.Am. J. Hum. Genet. 67: 1422-1427, 2000. [PubMed: 11055897related citations] [Full Text: Elsevier Science,Pubget]

132.Honeyman, M. S., Siker, E. Cystic fibrosis of the pancreas: an estimate of the incidence. Am. J. Hum. Genet. 17: 461-465, 1965. [PubMed: 5844121related citations] [Full Text: Pubget]

133.Horn, S. D., Horn, R. A., Sharkey, P. D., Beall, R. J., Hoff, J. S., Rosenstein, B. J. Misclassification problems in diagnosis-related groups: cystic fibrosis as an example. New Eng. J. Med. 314: 484-487, 1986.[PubMed: 3080680related citations] [Full Text: AtyponPubget]

134.Hosli, P., Vogt, E. Detection of cystic fibrosis homozygotes and heterozygotes with plasma. Lancet 314: 543-546, 1979. Note: Originally Volume 1.

135.Hubbard, R. C., McElvaney, N. G., Birrer, P., Shak, S., Robinson, W. W., Jolley, C., Wu, M., Chernick, M. S., Crystal, R. G. A preliminary study of aerosolized recombinant human deoxyribonuclease I in the treatment of cystic fibrosis. New Eng. J. Med. 326: 812-815, 1992. [PubMed: 1538726related citations] [Full Text: AtyponPubget]

136.Hyde, S. C., Gill, D. R., Higgins, C. F., Trezise, A. E. O., MacVinish, L. J., Cuthbert, A. W., Ratcliff, R., Evans, M. J., Colledge, W. H. Correction of the ion transport defect in cystic fibrosis transgenic mice by gene therapy. Nature 362: 250-255, 1993. [PubMed: 7681548related citations] [Full Text: Nature Publishing GroupPubget]

137.Jetten, A. M., Yankaskas, J. R., Stutts, M. J., Willumsen, N. J., Boucher, R. C. Persistence of abnormal chloride conductance regulation in transformed cystic fibrosis epithelia. Science 244: 1472-1475, 1989.[PubMed: 2472008related citations] [Full Text: HighWire PressPubget]

138.Johannesson, M., Gottlieb, C., Hjelte, L. Delayed puberty in girls with cystic fibrosis despite good clinical status. Pediatrics 99: 29-34, 1997. [PubMed: 8989333related citations] [Full Text: HighWire Press,Pubget]

139.Jorde, L. B., Lathrop, G. M. A test of the heterozygote-advantage hypothesis in cystic fibrosis carriers.Am. J. Hum. Genet. 42: 808-815, 1988. [PubMed: 3369446related citations] [Full Text: Pubget]

140.Kabra, M, Kabra, S. K., Ghosh, M., Khanna, A., Arora, S., Menon, P. S. N., Verma, I. C. Is the spectrum of mutations in Indian patients with cystic fibrosis different? (Letter) Am. J. Med. Genet. 93: 161-163, 2000. Note: Erratum: Am. J. Med. Genet. 95: 410 only, 2000. [PubMed: 10869121related citations] [Full Text:John Wiley & Sons, Inc.Pubget]

141.Katz, S. M., Krueger, L. J., Falkner, B. Microscopic nephrocalcinosis in cystic fibrosis. New Eng. J. Med. 319: 263-266, 1988. [PubMed: 3393180related citations] [Full Text: AtyponPubget]

142.Katznelson, D., Ben-Yishay, M. Cystic fibrosis in Israel: clinical and genetic aspects. Isr. J. Med. Sci. 14: 204-211, 1978. [PubMed: 649347related citations] [Full Text: Pubget]

143.Katznelson, D., Blau, H., Sack, J. Detection of cystic-fibrosis genotypes. (Letter) Lancet 322: 622 only, 1983. Note: Originally Volume 1.

144.Kent, G., Iles, R., Bear, C. E., Huan, L.-J., Griesenbach, U., McKerlie, C., Frndova, H., Ackerley, C., Gosselin, D., Radzioch, D., O'Brodovich, H., Tsui, L.-C., Buchwald, M., Tanswell, A. K. Lung disease in mice with cystic fibrosis. J. Clin. Invest. 100: 3060-3069, 1997. [PubMed: 9399953related citations] [Full Text: Journal of Clinical InvestigationPubget]

145.Kerem, B., Buchanan, J. A., Durie, P., Corey, M. L., Levison, H., Rommens, J. M., Buchwald, M., Tsui, L.-C.DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis. Am. J. Hum. Genet. 44: 827-834, 1989. [PubMed: 2567116related citations] [Full Text: Pubget]

146.Kerem, B., Rommens, J. M., Buchanan, J. A., Markiewicz, D., Cox, T. K., Chakravarti, A., Buchwald, M., Tsui, L.-C. Identification of the cystic fibrosis gene: genetic analysis. Science 245: 1073-1080, 1989. [PubMed:2570460related citations] [Full Text: HighWire PressPubget]

147.Kerem, E., Kalman, Y. M., Yahav, Y., Shoshani, T., Abeliovich, D., Szeinberg, A., Rivlin, J., Blau, H., Tal, A., Ben-Tur, L., Springer, C., Augarten, A., Godfrey, S., Lerer, I., Branski, D., Friedman, M., Kerem, B. Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel. Hum. Genet. 96: 193-197, 1995. [PubMed: 7635469related citations] [Full Text:Pubget]

148.Klinger, K., Horn, G. T., Stanislovitis, P., Schwartz, R. H., Fujiwara, T. M., Morgan, K. Cystic fibrosis mutations in the Hutterite brethren. Am. J. Hum. Genet. 46: 983-987, 1990. [PubMed: 2339696related citations] [Full Text: Pubget]

149.Klinger, K., Stanislovitis, P., Hoffman, N., Watkins, P. C., Schwartz, R., Doherty, R., Scambler, P., Farrall, M., Williamson, R., Wainwright, B. Genetic homogeneity of cystic fibrosis. Nucleic Acids Res. 14: 8681-8686, 1986. [PubMed: 3786136related citations] [Full Text: HighWire PressPubget]

150.Klinger, K. W. Cystic fibrosis in the Ohio Amish: gene frequency and founder effect. Hum. Genet. 65: 94-98, 1983. [PubMed: 6654341related citations] [Full Text: Pubget]

151.Knowles, M., Gatzy, J., Boucher, R. Relative ion permeability of normal and cystic fibrosis nasal epithelium. J. Clin. Invest. 71: 1410-1417, 1983. [PubMed: 6853720related citations] [Full Text: Pubget]

152.Knowles, M. R., Barnett, T. B., McConkie-Rosell, A., Sawyer, C., Kahler, S. G. Mild cystic fibrosis in a consanguineous family. Ann. Intern. Med. 110: 599-605, 1989. [PubMed: 2930093related citations] [Full Text: Pubget]

153.Knowles, M. R., Hohneker, K. W., Zhou, Z., Olsen, J. C., Noah, T. L., Hu, P.-C., Leigh, M. W., Engelhardt, J. F., Edwards, L. J., Jones, K. R., Grossman, M., Wilson, J. M., Johnson, L. G., Boucher, R. C. A controlled study of adenoviral-vector-mediated gene transfer in the nasal epithelium of patients with cystic fibrosis. New Eng. J. Med. 333: 823-831, 1995. [PubMed: 7544439related citations] [Full Text: Atypon,Pubget]

154.Knowlton, R. G., Cohen-Haguenauer, O., Van Cong, N., Frezal, J., Brown, V. A., Barker, D., Braman, J. C., Schumm, J. W., Tsui, L.-C., Buchwald, M., Donis-Keller, H. A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7. Nature 318: 380-382, 1985. [PubMed: 2999611related citations] [Full Text: Pubget]

155.Kravchenko, V. V., Kaufmann, G. F., Mathison, J. C., Scott, D. A., Katz, A. Z., Grauer, D. C., Lehmann, M., Meijler, M. M., Janda, K. D., Ulevitch, R. J. Modulation of gene expression via disruption of NF-kappa-B signaling by a bacterial small molecule. Science 321: 259-263, 2008. [PubMed: 18566250related citations] [Full Text: HighWire PressPubget]

156.Krawczak, M., Konecki, D. S., Schmidtke, J., Duck, M., Engel, W., Nutzenadel, W., Trefz, F. K. Allelic association of the cystic fibrosis locus and two DNA markers, XV2c and KM19, in 55 German families. Hum. Genet. 80: 78-80, 1988. [PubMed: 2901397related citations] [Full Text: Pubget]

157.Kristidis, P., Bozon, D., Corey, M., Markiewicz, D., Rommens, J., Tsui, L.-C., Durie, P. Genetic determination of exocrine pancreatic function in cystic fibrosis. Am. J. Hum. Genet. 50: 1178-1184, 1992. [PubMed: 1376016related citations] [Full Text: Pubget]

158.Kubesch, P., Dork, T., Wulbrand, U., Kalin, N., Neumann, T., Wulf, B., Geerlings, H., Weissbrodt, H., von der Hardt, H., Tummler, B. Genetic determinants of airways' colonisation with Pseudomonas aeruginosa in cystic fibrosis. Lancet 341: 189-193, 1993. [PubMed: 7678316related citations] [Full Text:Elsevier SciencePubget]

159.Kulczycki, L. L., Kostuch, M., Bellanti, J. A. A clinical perspective of cystic fibrosis and new genetic findings: relationship of CFTR mutations to genotype-phenotype manifestations. Am. J. Med. Genet. 116A: 262-267, 2003. [PubMed: 12503104related citations] [Full Text: John Wiley & Sons, Inc.Pubget]

160.Lander, E. S., Botstein, D. Consanguinity and heterogeneity: cystic fibrosis need not be homogeneous in Italy. (Letter) Am. J. Hum. Genet. 39: 282-283, 1986. [PubMed: 3752091related citations] [Full Text:Pubget]

161.Landry, D. W., Akabas, M. H., Redhead, C., Edelman, A., Cragoe, E. J., Jr., Al-Awqati, Q. Purification and reconstitution of chloride channels from kidney and trachea. Science 244: 1469-1472, 1989. [PubMed:2472007related citations] [Full Text: HighWire PressPubget]

162.Laroche, D., Travert, G. Abnormal frequency of delta-F(508) mutation in neonatal transitory hypertrypsinaemia. (Letter) Lancet 337: 55 only, 1991. [PubMed: 1670678related citations] [Full Text:Elsevier SciencePubget]

163.Ledford, H. Drug bests cystic-fibrosis mutation. Nature 482: 145 only, 2012. [PubMed: 22318583related citations] [Full Text: Nature Publishing GroupPubget]

164.Lemna, W. K., Feldman, G. L., Kerem, B., Fernbach, S. D., Zevkovich, E. P., O'Brien, W. E., Riordan, J. R., Collins, F. S., Tsui, L.-C., Beaudet, A. L. Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis. New Eng. J. Med. 322: 291-296, 1990. [PubMed: 2296270related citations] [Full Text: AtyponPubget]

165.Levitan, I. B. The basic defect in cystic fibrosis. Science 244: 1423, 1989. [PubMed: 2544028related citations] [Full Text: HighWire PressPubget]

166.Lowe, C. U., May, C. D., Reed, S. C. Fibrosis of the pancreas in infants and children: a statistical study of clinical and hereditary features. Am. J. Dis. Child. 78: 349-374, 1949. [PubMed: 18138931related citations] [Full Text: HighWire PressPubget]

167.Macek, M., Jr., Mackova, A., Hamosh, A., Hilman, B. C., Selden, R. F., Lucotte, G., Friedman, K. J., Knowles, M. R., Rosenstein, B. J., Cutting, G. R. Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%. Am. J. Hum. Genet. 60: 1122-1127, 1997. [PubMed: 9150159related citations] [Full Text: Pubget]

168.Mall, M., Grubb, B. R., Harkema, J. R., O'Neal, W. K., Boucher, R. C. Increased airway epithelial Na(+) absorption produces cystic fibrosis-like lung disease in mice. Nature Med. 10: 487-493, 2004. [PubMed:15077107related citations] [Full Text: Nature Publishing GroupPubget]

169.Mangos, J. A., McSherry, N. R. Studies on the mechanism of inhibition of sodium transport in cystic fibrosis of the pancreas. Pediat. Res. 2: 378-384, 1968. [PubMed: 5672699related citations] [Full Text:Pubget]

170.Manson, A. L., Trezise, A. E. O., MacVinish, L. J., Kasschau, K. D., Birchall, N., Episkopou, V., Vassaux, G., Evans, M. J., Colledge, W. H., Cuthbert, A. W., Huxley, C. Complementation of null CF mice with a human CFTR YAC transgene. EMBO J. 16: 4238-4249, 1997. [PubMed: 9250667related citations] [Full Text: Pubget]

171.Manson, J. C., Brock, D. J. H. Development of a quantitative immunoassay for the cystic fibrosis gene.Lancet 315: 330-331, 1980. Note: Originally Volume 1. [PubMed: 6101788related citations] [Full Text:Pubget]

172.Marino, C. R., Matovcik, L. M., Gorelick, F. S., Cohn, J. A. Localization of the cystic fibrosis transmembrane conductance regulator in pancreas. J. Clin. Invest. 88: 712-716, 1991. [PubMed: 1713921,related citations] [Full Text: Journal of Clinical InvestigationPubget]

173.Mateu, E., Calafell, F., Ramos, M. D., Casals, T., Bertranpetit, J. Can a place of origin of the main cystic fibrosis mutations be identified? Am. J. Hum. Genet. 70: 257-264, 2002. [PubMed: 11713719related citations] [Full Text: Elsevier SciencePubget]

174.Matsui, H., Grubb, B. R., Tarran, R., Randell, S. H., Gatzy, J. T., Davis, C. W., Boucher, R. C. Evidence for periciliary liquid layer depletion, not abnormal ion composition, in the pathogenesis of cystic fibrosis airways disease. Cell 95: 1005-1015, 1998. [PubMed: 9875854related citations] [Full Text: Elsevier SciencePubget]

175.Mayo, B. J., Klebe, R. J., Barnett, D. R., Lankford, B. J., Bowman, B. H. Somatic cell genetic studies of the cystic fibrosis mucociliary inhibitor. Clin. Genet. 18: 379-386, 1980. [PubMed: 7460374related citations] [Full Text: Pubget]

176.McIntosh, I., Lorenzo, M.-L., Brock, D. J. H. Frequency of delta-F508 mutation on cystic fibrosis chromosomes in UK. (Letter) Lancet 334: 1404 only, 1989. Note: Originally Volume 2. [PubMed: 2574356,related citations] [Full Text: Pubget]

177.McMillan, S. A., Hill, A. J. M., Graham, C. A., Nevin, N. C., Fay, A. C. T cell receptor beta chain polymorphisms are associated with cystic fibrosis. J. Med. Genet. 26: 431-433, 1989. [PubMed: 2568490,related citations] [Full Text: HighWire PressPubget]

178.Mekus, F., Ballmann, M., Bronsveld, I., Dork, T., Bijman, J., Tummler, B., Veeze, H. J. Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator. Hum. Genet. 102: 582-586, 1998. [PubMed: 9654209related citations] [Full Text: SpringerPubget]

179.Mekus, F., Laabs, U., Veeze, H., Tummler, B. Genes in the vicinity of CFTR modulate the cystic fibrosis phenotype in highly concordant or discordant F508del homozygous sib pairs. Hum. Genet. 112: 1-11, 2003. [PubMed: 12483292related citations] [Full Text: SpringerPubget]

180.Meyer, P., Braun, A., Roscher, A. A. Analysis of the two common alpha-1-antitrypsin deficiency alleles PiMS and PiMZ as modifiers of Pseudomonas aeruginosa susceptibility in cystic fibrosis. Clin. Genet. 62: 325-327, 2002. [PubMed: 12372062related citations] [Full Text: Blackwell PublishingPubget]

181.Mornet, E., Simon-Bouy, B., Serre, J. L., Estivill, X., Farrall, M., Boue, J., Williamson, R., Boue, J., Boue, A.Genetic differences between cystic fibrosis with and without meconium ileus. Lancet 331: 376-378, 1988. Note: Originally Volume 1. [PubMed: 2893188related citations] [Full Text: Elsevier SciencePubget]

182.Mornet, E., Simon-Bouy, B., Serre, J. L., Muller, F., Taillandier, A., Martinez, M., Boue, J., Boue, A. Genetic heterogeneity between two clinical forms of cystic fibrosis evidenced by familial analysis and linked DNA probes. Clin. Genet. 35: 81-87, 1989. [PubMed: 2566403related citations] [Full Text: Pubget]

183.Morreau, J., Sinaasappel, M., Oostra, B. A., Halley, D. J. J. Cystic fibrosis: screening for a DNA deletion by field inversion gel electrophoresis. Hum. Genet. 79: 64-67, 1988. [PubMed: 2896622related citations] [Full Text: Pubget]

184.Muller, F., Dommergues, M., Simon-Bouy, B., Ferec, C., Oury, J.-F., Aubry, M.-C., Bessis, R., Vuillard, E., Denamur, E., Bienvenu, T., Serre, J.-L. Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case. J. Med. Genet. 35: 657-660, 1998. [PubMed: 9719372related citations] [Full Text:HighWire PressPubget]

185.Mutesa, L., Azad, A. K., Verhaeghe, C., Segers, K., Vanbellinghen, J.-F., Ngendahayo, L., Rusingiza, E. K., Mutwa, P. R., Rulisa, S., Koulischer, L., Cassiman, J.-J., Cuppens, H., Bours, V. Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: Identification of novel cystic fibrosis transmembrane conductance and epithelial sodium channel gene variants. Chest 135: 1233-1242, 2009. [PubMed: 19017867related citations] [Full Text: HighWire PressPubget]

186.Nam, M. H., Hijikata, M., Tuan, L. A., Lien, L. T., Shojima, J., Horie, T., Nakata, K., Matsushita, I., Ohashi, J., Tokunaga, K., Keicho, N. Variations of the CFTR gene in the Hanoi-Vietnamese. Am. J. Med. Genet. 136A: 249-253, 2005. [PubMed: 15948196related citations] [Full Text: John Wiley & Sons, Inc.Pubget]

187.Naylor, S. L., Barnett, D. R., Buchanan, J. M., Latimer, J., Wieder, K., Marshall, S., Gardner, J., Denning, C. R., Gluckson, M., Pinero, R., Rendon, H., Miranda, L. I., Kammerer, C., Zansky, S. M., King, R. H., Bowman, B. H., MacCluer, J. W. Linkage of cystic fibrosis locus and polymorphic DNA markers in 14 families.Am. J. Hum. Genet. 39: 707-712, 1986. [PubMed: 3026173related citations] [Full Text: Pubget]

188.Nazer, H., Riff, E., Sakati, N., Mathew, R., Majeed-Saidan, M. A., Harfi, H. Cystic fibrosis in Saudi Arabia. Europ. J. Pediat. 148: 330-332, 1989. [PubMed: 2785036related citations] [Full Text: Pubget]

189.Neglia, J. P., FitzSimmons, S. C., Maisonneuve, P., Schoni, M. H., Schoni-Affolter, F., Corey, M., Lowenfels, A. B., Boyle, P., Dozor, A. J., Durie, P. The risk of cancer among patients with cystic fibrosis. New Eng. J. Med. 332: 494-499, 1995. [PubMed: 7830730related citations] [Full Text: AtyponPubget]

190.Nunes, V., Gasparini, P., Novelli, G., Gaona, A., Bonizzato, A., Sangiuolo, F., Balassopoulou, A., Gimenez, F. J., Dognini, M., Ravnik-Glavac, M., Cikuli, M., Mokini, V., Komel, R., Dallapiccola, B., Pignatti, P. F., Loukopoulos, D., Casals, T., Estivill, X. Analysis of 14 cystic fibrosis mutations in five south European populations. Hum. Genet. 87: 737-738, 1991. [PubMed: 1937479related citations] [Full Text: Pubget]

191.O'Sullivan, B. P., Freedman, S. D. Cystic fibrosis. Lancet 373: 1891-1904, 2009. [PubMed: 19403164related citations] [Full Text: Elsevier SciencePubget]

192.Ober, C., Bombard, A., Dhaliwal, R., Elias, S., Fagan, J., Laffler, T. G., Martin, A. O., Rosinsky, B. Studies of cystic fibrosis in Hutterite families by using linked DNA probes. Am. J. Hum. Genet. 41: 1145-1151, 1987. [PubMed: 3479902related citations] [Full Text: Pubget]

193.Oppenheimer, E. H. Absence of pancreatic lesions in cystic fibrosis. Birth Defects Orig. Art. Ser. VIII(2): 108-113, 1972.

194.Oppenheimer, E. H., Case, A. L., Esterly, J. R., Rothberg, R. M. Cervical mucus in cystic fibrosis: a possible cause of infertility. Am. J. Obstet. Gynec. 108: 673-674, 1970. [PubMed: 5505999related citations] [Full Text: Pubget]

195.Oppenheimer, E. H., Esterly, J. R. Observations on cystic fibrosis of the pancreas. VI. The uterine cervix. J. Pediat. 77: 991-995, 1970. [PubMed: 5486639related citations] [Full Text: Pubget]

196.Oppenheimer, E. H., Esterly, J. R. Observations on cystic fibrosis of the pancreas. V. Developmental changes in the male genital system. J. Pediat. 75: 806-811, 1969. [PubMed: 5357932related citations] [Full Text: Pubget]

197.Padoa, C., Goldman, A., Jenkins, T., Ramsay, M. Cystic fibrosis carrier frequencies in populations of African origin. J. Med. Genet. 36: 41-44, 1999. [PubMed: 9950364related citations] [Full Text: HighWire PressPubget]

198.Park, M., Testa, J. R., Blair, D. G., Dean, M., Parsa, N. Z., Vande Woude, G. F. The CF locus is distal to and upstream from the met protooncogene transcription unit which is located at 7q31-32. Cytogenet. Cell Genet. 46: 674-675, 1987.

199.Pier, G. B., Grout, M., Zaidi, T., Meluleni, G., Mueschenborn, S. S., Banting, G., Ratcliff, R., Evans, M. J., Colledge, W. H. Salmonella typhi uses CFTR to enter intestinal epithelial cells. Nature 393: 79-82, 1998. [PubMed: 9590693related citations] [Full Text: Nature Publishing GroupPubget]

200.Pier, G. B., Grout, M., Zaldi, T. S., Olsen, J. C., Johnson, L. G., Yankaskas, J. R., Goldberg, J. B. Role of mutant CFTR in hypersusceptibility of cystic fibrosis patients to lung infections. Science 271: 63-67, 1996.

201.Quint, A., Lerer, I., Sagi, M., Abeliovich, D. Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening. Am. J. Med. Genet. 136A: 246-248, 2005. [PubMed: 15948195,related citations] [Full Text: John Wiley & Sons, Inc.Pubget]

202.Quinton, P. M. Chloride impermeability in cystic fibrosis. Nature 301: 421-422, 1983. [PubMed:6823316related citations] [Full Text: Pubget]

203.Rao, G. J. S., Nadler, H. L. Deficiency of arginine esterase in cystic fibrosis of pancreas--demonstration of proteolytic nature of activity. Pediat. Res. 9: 739-741, 1975. [PubMed: 1202423related citations] [Full Text: Pubget]

204.Rao, G. J. S., Nadler, H. L. Arginine esterase in cystic fibrosis of the pancreas. Pediat. Res. 8: 684-686, 1974. [PubMed: 4838499related citations] [Full Text: Pubget]

205.Rao, G. J. S., Posner, L. A., Nadler, H. L. Deficiency of kallikrein activity in plasma of patients with cystic fibrosis. Science 177: 610-611, 1972. [PubMed: 4538064related citations] [Full Text: HighWire Press,Pubget]

206.Reddy, M. M., Light, M. J., Quinton, P. M. Activation of the epithelial Na(+) channel (ENaC) requires CFTR CI(-) channel function. Nature 402: 301-304, 1999. [PubMed: 10580502related citations] [Full Text:Nature Publishing GroupPubget]

207.Restrepo, C. M., Pineda, L., Rojas-Martinez, A., Gutierrez, C. A., Morales, A., Gomez, Y., Villalobos, M. C., Borjas, L., Delgado, W., Myers, A., Barrera-Saldana, H. A. CFTR mutations in three Latin American countries. Am. J. Med. Genet. 91: 277-279, 2000. [PubMed: 10766983related citations] [Full Text: John Wiley & Sons, Inc.Pubget]

208.Rich, D. P., Anderson, M. P., Gregory, R. J., Cheng, S. H., Paul, S., Jefferson, D. M., McCann, J. D., Klinger, K. W., Smith, A. E., Welsh, M. J. Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells. Nature 347: 358-363, 1990. [PubMed: 1699126related citations] [Full Text: Nature Publishing GroupPubget]

209.Roberts, G. B. S. Familial incidence of fibrocystic disease of the pancreas. Ann. Hum. Genet. 24: 127-135, 1960. [PubMed: 14437811related citations] [Full Text: Pubget]

210.Rodman, D. M., Zamudio, S. The cystic fibrosis heterozygote--advantage in surviving cholera? Med. Hypotheses 36: 253-258, 1991. [PubMed: 1724059related citations] [Full Text: Elsevier SciencePubget]

211.Rogers, C. S., Stoltz, D. A., Meyerholz, D. K., Ostedgaard, L. S., Rokhlina, T., Taft, P. J., Rogan, M. P., Pezzulo, A. A., Karp, P. H., Itani, O. A., Kabel, A. C., Wohlford-Lenane, C. L., and 16 others. Disruption of the CFTR gene produces a model of cystic fibrosis in newborn pigs. Science 321: 1837-1841, 2008.[PubMed: 18818360related citations] [Full Text: HighWire PressPubget]

212.Romeo, G., Bianco, M., Devoto, M., Menozzi, P., Mastella, G., Giunta, A. M., Micalizzi, C., Antonelli, M., Battistini, A., Santamaria, F., Castello, D., Marianelli, A., Marchi, A. G., Manca, A., Miano, A. Incidence in Italy, genetic heterogeneity, and segregation analysis of cystic fibrosis. Am. J. Hum. Genet. 37: 338-349, 1985. [PubMed: 3985009related citations] [Full Text: Pubget]

213.Romeo, G., Devoto, M., Bianco, M. Homogeneity vs. heterogeneity of cystic fibrosis in Italy. (Letter)Am. J. Hum. Genet. 39: 283-284, 1986. [PubMed: 3752092related citations] [Full Text: Pubget]

214.Romeo, G., Devoto, M., Galietta, L. J. V. Why is the cystic fibrosis gene so frequent? Hum. Genet. 84: 1-5, 1989. [PubMed: 2691388related citations] [Full Text: Pubget]

215.Rosenfeld, M. A., Yoshimura, K., Trapnell, B. C., Yoneyama, K., Rosenthal, E. R., Dalemans, W., Fukayama, M., Bargon, J., Stier, L. E., Stratford-Perricaudet, L., Perricaudet, M., Guggino, W. B., Pavirani, A., Lecocq, J.-P., Crystal, R. G. In vivo transfer of the human cystic fibrosis transmembrane conductance regulator gene to the airway epithelium. Cell 68: 143-155, 1992. [PubMed: 1370653related citations] [Full Text: Elsevier SciencePubget]

216.Rozmahel, R., Wilschanski, M., Matin, A., Plyte, S., Oliver, M., Auerbach, W., Moore, A., Forstner, J., Durie, P., Nadeau, J., Bear, C., Tsui, L.-C. Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nature Genet. 12: 280-287, 1996. Note: Erratum: Nature Genet. 13: 129 only, 1996. [PubMed: 8589719related citations] [Full Text: Nature Publishing GroupPubget]

217.Sanguinetti-Briceno, N. R., Brock, D. J. H. NADH dehydrogenase in cystic fibrosis. Clin. Genet. 22: 308-311, 1982. [PubMed: 7160101related citations] [Full Text: Pubget]

218.Savov, A., Angelicheva, D., Balassopoulou, A., Jordanova, A., Noussia-Arvanitakis, S., Kalaydjieva, L.Double mutant alleles: are they rare? Hum. Molec. Genet. 4: 1169-1171, 1995. [PubMed: 8528204related citations] [Full Text: HighWire PressPubget]

219.Scambler, P., Robbins, T., Gilliam, C., Boylston, A., Tippett, P., Williamson, R., Davies, K. E. Linkage studies between polymorphic markers on chromosome 4 and cystic fibrosis. Hum. Genet. 69: 250-254, 1985. [PubMed: 2984105related citations] [Full Text: Pubget]

220.Scambler, P. J., Wainwright, B. J., Farrall, M., Bell, J., Stanier, P., Lench, N. J., Bell, G., Kruyer, H., Ramirez, F., Williamson, R. Linkage of COL1A2 collagen gene to cystic fibrosis, and its clinical implications. (Letter) Lancet 326: 1241-1242, 1985. Note: Originally Volume 2. [PubMed: 2866313related citations] [Full Text: Elsevier SciencePubget]

221.Scambler, P. J., Wainwright, B. J., Watson, E., Bates, G., Bell, G., Williamson, R., Farrall, M. Isolation of a further anonymous informative DNA sequence from chromosome seven closely linked to cystic fibrosis. Nucleic Acids Res. 14: 1951-1956, 1986. [PubMed: 3960715related citations] [Full Text: HighWire PressPubget]

222.Schoumacher, R. A., Ram, J., Iannuzzi, M. C., Bradbury, N. A., Wallace, R. W., Tom Hon, C., Kelly, D. R., Schmid, S. M., Gelder, F. B., Rado, T. A., Frizzell, R. A. A cystic fibrosis pancreatic adenocarcinoma cell line. Proc. Nat. Acad. Sci. 87: 4012-4016, 1990. [PubMed: 1692630related citations] [Full Text: HighWire PressPubget]

223.Scotet, V., Audrezet, M.-P., Roussey, M., Rault, G., Blayau, M., De Braekeleer, M., Ferec, C. Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France. Hum. Genet. 113: 280-285, 2003. [PubMed: 12768409related citations] [Full Text: SpringerPubget]

224.Scotet, V., De Braekeleer, M., Audrezet, M.-P., Quere, I., Mercier, B., Dugueperoux, I., Andrieux, J., Blayau, M., Ferec, C. Prenatal detection of cystic fibrosis by ultrasonography: a retrospective study of more than 346 000 pregnancies. J. Med. Genet. 39: 443-448, 2002. [PubMed: 12070257related citations] [Full Text: HighWire PressPubget]

225.Scotet, V., Gillet, D., Dugueperoux, I., Audrezet, M.-P., Bellis, G., Garnier, B., Roussey, M., Rault, G., Parent, P., De Braekeleer, M., Ferec, C. Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960. Hum. Genet. 111: 247-254, 2002.[PubMed: 12215837related citations] [Full Text: SpringerPubget]

226.Scully, R. E., Goldabini, J. J., McNeely, B. V. Case reports of the Massachusetts General Hospital (CPCs). New Eng. J. Med. 296: 1519-1526, 1977. [PubMed: 865535related citations] [Full Text: Atypon,Pubget]

227.Searle, A. G., Peters, J., Lyon, M. F., Evans, E. P., Edwards, J. H., Bauckle, B. J. Chromosome maps of man and mouse, III. Genomics 1: 3-18, 1987. [PubMed: 3311967related citations] [Full Text: Elsevier Science,Pubget]

228.Shapiro, B. L., Lam, L. F.-H. Calcium and age in fibroblasts from control subjects and patients with cystic fibrosis. Science 216: 417-419, 1982. [PubMed: 7071590related citations] [Full Text: HighWire Press,Pubget]

229.Shapiro, B. L., Lam, L. F.-H., Feigal, R. J. Mitochondrial NADH dehydrogenase in cystic fibrosis: enzyme kinetics in cultured fibroblasts. Am. J. Hum. Genet. 34: 846-852, 1982. [PubMed: 7180843,related citations] [Full Text: Pubget]

230.Sharer, N., Schwarz, M., Malone, G., Howarth, A., Painter, J., Super, M., Braganza, J. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. New Eng. J. Med. 339: 645-652, 1998.[PubMed: 9725921related citations] [Full Text: AtyponPubget]

231.Shepherd, R. W., Holt, T. L., Vasques-Velasquez, L., Coward, W. A., Prentice, A., Lucas, A. Increased energy expenditure in young children with cystic fibrosis. Lancet 331: 1300-1303, 1988. Note: Originally Volume 1. [PubMed: 2897557related citations] [Full Text: Elsevier SciencePubget]

232.Sheppard, D. N., Rich, D. P., Ostedgaard, L. S., Gregory, R. J., Smith, A. E., Welsh, M. J. Mutations in CFTR associated with mild-disease form CI- channels with altered pore properties. Nature 362: 160-164, 1993. [PubMed: 7680769related citations] [Full Text: Nature Publishing GroupPubget]

233.Sheridan, M. B., Fong, P., Groman, J. D., Conrad, C., Flume, P., Diaz, R., Harris, C., Knowles, M., Cutting, G. R. Mutations in the beta-subunit of the epithelial Na(+) channel in patients with a cystic fibrosis-like syndrome. Hum. Molec. Genet. 14: 3493-3498, 2005. [PubMed: 16207733related citations] [Full Text:HighWire PressPubget]

234.Shier, W. T. Increased resistance to influenza as a possible source of heterozygote advantage in cystic fibrosis. Med. Hypotheses 5: 661-667, 1979. [PubMed: 226848related citations] [Full Text: Elsevier Science,Pubget]

235.Shwachman, H., Kowalski, M., Khaw, K.-T. Cystic fibrosis: a new outlook: 70 patients above 25 years of age. Medicine 56: 129-149, 1977. [PubMed: 846387related citations] [Full Text: Pubget]

236.Sing, C. F., Risser, D. R., Howatt, W. F., Erickson, R. P. Phenotypic heterogeneity in cystic fibrosis. Am. J. Med. Genet. 13: 179-195, 1982. [PubMed: 7137230related citations] [Full Text: Pubget]

237.Siraganian, P. A., Miller, R. W., Swender, P. T. Cystic fibrosis and ileal carcinoma. (Letter) Lancet 330: 1158 only, 1987. Note: Originally Volume 2. [PubMed: 2890063related citations] [Full Text: Pubget]

238.Smith, D. W., Docter, J. M., Ferrier, P. E., Frias, J. L., Spock, A. Possible localisation of the gene for cystic fibrosis of the pancreas to the short arm of chromosome 5. Lancet 292: 309-311, 1968. Note: Originally Volume 2. [PubMed: 4173733related citations] [Full Text: Pubget]

239.Smyth, R. L. Fibrosing colonopathy in cystic fibrosis. Arch. Child. Dis. 74: 464-466, 1996.

240.Smyth, R. L., van Velzen, D., Smyth, A. R., Lloyd, D. A., Heaf, D. P. Strictures of ascending colon in cystic fibrosis and high-strength pancreatic enzymes. Lancet 343: 85-86, 1994. [PubMed: 7903780,related citations] [Full Text: Elsevier SciencePubget]

241.Snouwaert, J. N., Brigman, K. K., Latour, A. M., Malouf, N. N., Boucher, R. C., Smithies, O., Koller, B. H. An animal model for cystic fibrosis made by gene targeting. Science 257: 1083-1088, 1992. [PubMed:1380723related citations] [Full Text: HighWire PressPubget]

242.Spence, J. E., Perciaccante, R. G., Greig, G. M., Willard, H. F., Ledbetter, D. H., Hejtmancik, J. F., Pollack, M. S., O'Brien, W. E., Beaudet, A. L. Uniparental disomy as a mechanism for human genetic disease. Am. J. Hum. Genet. 42: 217-226, 1988. [PubMed: 2893543related citations] [Full Text: Pubget]

243.Spence, J. E., Rosenbloom, C. L., O'Brien, W. E., Seilheimer, D. K., Cole, S., Ferrell, R. E., Stern, R. C., Beaudet, A. L. Linkage of DNA markers to cystic fibrosis in 26 families. Am. J. Hum. Genet. 39: 729-734, 1986. [PubMed: 2879439related citations] [Full Text: Pubget]

244.Spock, A., Heick, H. M. C., Cress, H., Logan, W. S. Abnormal serum factor in patients with cystic fibrosis of the pancreas. Pediat. Res. 1: 173-177, 1967. [PubMed: 6080862related citations] [Full Text:Pubget]

245.Stanke, F., Becker, T., Cuppens, H., Kumar, V., Cassiman, J.-J., Jansen, S., Radojkovic, D., Siebert, B., Yarden, J., Ussery, D. W., Wienker, T. F., Tummler, B. The TNF-alpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis. Hum. Genet. 119: 331-343, 2006. [PubMed: 16463024related citations] [Full Text: SpringerPubget]

246.Steinberg, A. G., Brown, D. C. On the incidence of cystic fibrosis of the pancreas. Am. J. Hum. Genet. 12: 416-424, 1960. [PubMed: 17948456related citations] [Full Text: Pubget]

247.Stern, R. C. The diagnosis of cystic fibrosis. New Eng. J. Med. 336: 487-491, 1997. [PubMed: 9017943,related citations] [Full Text: AtyponPubget]

248.Stern, R. C., Boat, T. F., Abramowsky, C. R., Matthews, L. W., Wood, R. E., Daershuk, C. F. Intermediate-range sweat chloride concentration and Pseudomonas bronchitis: a cystic fibrosis variant with preservation of exocrine pancreatic function. JAMA 239: 2676-2680, 1978. [PubMed: 650841related citations] [Full Text: Pubget]

249.Stern, R. C., Boat, T. F., Doershuk, C. F. Obstructive azoospermia as a diagnostic criterion for the cystic fibrosis syndrome. Lancet 319: 1401-1404, 1982. Note: Originally Volume 1. [PubMed: 6123689related citations] [Full Text: Pubget]

250.Strain, L., Curtis, A., Mennie, M., Holloway, S., Brock, D. J. H. Use of linkage disequilibrium data in prenatal diagnosis of cystic fibrosis. Hum. Genet. 80: 75-77, 1988. [PubMed: 3417307related citations] [Full Text: Pubget]

251.Super, M. Genetic counselling and antenatal diagnosis of cystic fibrosis. J. Roy. Soc. Med. 80: 13-15, 1987. [PubMed: 3477643related citations] [Full Text: Pubget]

252.Tarran, R., Grubb, B. R., Parsons, D., Picher, M., Hirsh, A. J., Davis, C. W., Boucher, R. C. The CF salt controversy: in vivo observations and therapeutic approaches. Molec. Cell 8: 149-158, 2001. [PubMed:11511368related citations] [Full Text: Elsevier SciencePubget]

253.Tebbutt, S. J., Wardle, C. J. C., Hill, D. F., Harris, A. Molecular analysis of the ovine cystic fibrosis transmembrane conductance regulator gene. Proc. Nat. Acad. Sci. 92: 2293-2297, 1995. [PubMed:7534416related citations] [Full Text: HighWire PressPubget]

254.Ten Kate, L. P., Scheffer, H., Cornel, M. C., vanLookeren Campagne, J. G. Consanguinity sans reproche.Hum. Genet. 86: 295-296, 1991. [PubMed: 1997385related citations] [Full Text: Pubget]

255.The Cystic Fibrosis Genotype-Phenotype Consortium. Correlation between genotype and phenotype in patients with cystic fibrosis. New Eng. J. Med. 329: 1308-1313, 1993. [PubMed: 8166795related citations] [Full Text: AtyponPubget]

256.Tsui, L.-C., Buchwald, M., Barker, D., Braman, J. C., Knowlton, R., Schumm, J. W., Eiberg, H., Mohr, J., Kennedy, D., Plavsic, N., Zsiga, M., Markiewicz, D., Akots, G., Brown, V., Helms, C., Gravius, T., Parker, C., Rediker, K., Donis-Keller, H. Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. Science 230: 1054-1057, 1985. [PubMed: 2997931related citations] [Full Text: HighWire Press,Pubget]

257.Tsui, L.-C., Buetow, K., Buchwald, M. Genetic analysis of cystic fibrosis using linked DNA markers.Am. J. Hum. Genet. 39: 720-728, 1986. [PubMed: 3467587related citations] [Full Text: Pubget]

258.van de Vosse, E., Ali, S., de Visser, A. W., Surjadi, C., Widjaja, S., Vollaard, A. M., van Dissel, J. T.Susceptibility to typhoid fever is associated with a polymorphism in the cystic fibrosis transmembrane conductance regulator (CFTR). Hum. Genet. 118: 138-140, 2005. [PubMed: 16078047,related citations] [Full Text: SpringerPubget]

259.Viel, M., Leroy, C., Hubert, D., Fajac, I., Bienvenu, T. ENaC-beta and -gamma genes as modifier genes in cystic fibrosis. J. Cyst. Fibros. 7: 23-29, 2008. [PubMed: 17560176related citations] [Full Text: Elsevier SciencePubget]

260.Vitale, E., Devoto, M., Mastella, G., Romeo, G. Homogeneity of cystic fibrosis in Italy. Am. J. Hum. Genet. 39: 832-836, 1986. [PubMed: 3467589related citations] [Full Text: Pubget]

261.Voss, R., Ben-Simon, E., Avital, A., Godfrey, S., Zlotogora, J., Dagan, J., Tikochinski, T., Hillel, J. Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?Am. J. Hum. Genet. 45: 373-380, 1989. [PubMed: 2570528related citations] [Full Text: Pubget]

262.Voss, R., Ben-Simon, E., Zlotogora, Y., Dagan, J., Godfry, S., Haberfeld, A., Hillel, Y. Uniparental disomy for chromosome 7--cause for homozygosity at the cystic fibrosis locus. (Abstract) Am. J. Hum. Genet. 43: A73 only, 1988.

263.Wainwright, B., Scambler, P., Farrall, M., Schwartz, M., Williamson, R. Linkage between the cystic fibrosis locus and markers on chromosome 7q. Cytogenet. Cell Genet. 41: 191-192, 1986. [PubMed:3956271related citations] [Full Text: Pubget]

264.Wainwright, B. J., Scambler, P. J., Schmidtke, J., Watson, E. A., Law, H.-Y., Farrall, M., Cooke, H. J., Eiberg, H., Williamson, R. Localization of cystic fibrosis locus to human chromosome 7cen-q22. Nature 318: 384-385, 1985. [PubMed: 2999612related citations] [Full Text: Pubget]

265.Wang, J., Bowman, M. C., Hsu, E., Wertz, K., Wong, L.-J. C. A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients. J. Med. Genet. 37: 215-218, 2000.[PubMed: 10777364related citations] [Full Text: HighWire PressPubget]

266.Warner, J. O., Norman, A. P., Soothill, J. F. Cystic fibrosis heterozygosity in the pathogenesis of allergy. Lancet 307: 990-991, 1976. Note: Originally Volume 1. [PubMed: 57442related citations] [Full Text:Elsevier SciencePubget]

267.Watkins, P. C., Schwartz, R., Hoffman, N., Stanislovitis, P., Doherty, R., Klinger, K. A linkage study of cystic fibrosis is extended multigenerational pedigrees. Am. J. Hum. Genet. 39: 735-743, 1986.[PubMed: 2879440related citations] [Full Text: Pubget]

268.Welsh, M. J., Fick, R. B. Cystic fibrosis. J. Clin. Invest. 80: 1523-1526, 1987. [PubMed: 3316277related citations] [Full Text: Journal of Clinical InvestigationPubget]

269.White, R., Leppert, M., O'Connell, P., Nakamura, Y., Woodward, S., Hoff, M., Herbst, J., Dean, M., Vande Woude, G., Lathrop, G. M., Lalouel, J.-M. Further linkage data on cystic fibrosis: the Utah study. Am. J. Hum. Genet. 39: 694-698, 1986. [PubMed: 2879438related citations] [Full Text: Pubget]

270.White, R., Woodward, S., Leppert, M., O'Connell, P., Hoff, M., Herbst, J., Lalouel, J.-M., Dean, M., Vande Woude, G. A closely linked genetic marker for cystic fibrosis. Nature 318: 382-384, 1985. [PubMed:3906407related citations] [Full Text: Pubget]

271.Widdicombe, J. H., Welsh, M. J., Finkbeiner, W. E. Cystic fibrosis decreases the apical membrane chloride permeability of monolayers cultured from cells of tracheal epithelium. Proc. Nat. Acad. Sci. 82: 6167-6171, 1985. [PubMed: 3862125related citations] [Full Text: HighWire PressPubget]

272.Williamson, R. Personal Communication. London, England 11/22/1984.

273.Wilmut, I., Schnieke, A. E., McWhir, J., Kind, A. J., Campbell, K. H. S. Viable offspring derived from fetal and adult mammalian cells. Nature 385: 810-813, 1997. [PubMed: 9039911related citations] [Full Text:Nature Publishing GroupPubget]

274.Wilson, G. B., Fudenberg, H. H., Jahn, T. L. Studies on cystic fibrosis using isoelectric focusing. I. An assay for detection of cystic fibrosis homozygotes and heterozygote carriers from serum. Pediat. Res. 9: 635-640, 1975. [PubMed: 239381related citations] [Full Text: Pubget]

275.Wilson, J. M. Gene therapy for cystic fibrosis: challenges and future directions. J. Clin. Invest. 96: 2547-2554, 1995. [PubMed: 8675618related citations] [Full Text: Journal of Clinical InvestigationPubget]

276.Wine, J. J. No CFTR: are CF symptoms milder? (Letter) Nature Genet. 1: 10 only, 1992. [PubMed:1284545related citations] [Full Text: Nature Publishing GroupPubget]

277.Woo, S. Personal Communication. Houston, Tex. 1988.

278.Wright, S. W., Morton, N. E. Genetic studies on cystic fibrosis in Hawaii. Am. J. Hum. Genet. 20: 157-162, 1968. [PubMed: 5643180related citations] [Full Text: Pubget]

279.Yang, Y., Devor, D. C., Engelhardt, J. F., Ernst, S. A., Strong, T. V., Collins, F. S., Cohn, J. A., Frizzell, R. A., Wilson, J. M. Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR. Hum. Molec. Genet. 2: 1253-1261, 1993. [PubMed: 7691345related citations] [Full Text: HighWire PressPubget]

280.Yang, Y., Raper, S. E., Cohn, J. A., Engelhardt, J. F., Wilson, J. M. An approach for treating the hepatobiliary disease of cystic fibrosis by somatic gene transfer. Proc. Nat. Acad. Sci. 90: 4601-4605, 1993. [PubMed: 7685107related citations] [Full Text: HighWire PressPubget]

281.Yarden, J., Radojkovic, D., De Boeck, K., Macek, M., Jr., Zemkova, D., Vavrova, V., Vlietinck, R., Cassiman, J.-J., Cuppens, H. Polymorphisms in the mannose binding lectin gene affect the cystic fibrosis pulmonary phenotype. J. Med. Genet. 41: 629-633, 2004. [PubMed: 15286159related citations] [Full Text:HighWire PressPubget]

282.Zhou, L., Dey, C. R., Wert, S. E., DuVall, M. D., Frizzell, R. A., Whitsett, J. A. Correction of lethal intestinal defect in a mouse model of cystic fibrosis by human CFTR. Science 266: 1705-1708, 1994.[PubMed: 7527588related citations] [Full Text: HighWire PressPubget]

 Contributors:Ada Hamosh - updated : 9/7/2011
Creation Date:Victor A. McKusick : 6/3/1986
 Edit History:alopez : 06/21/2012

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