PARCERIAS

terça-feira, 3 de julho de 2012

FIBROSE CISTICA ATUALIZADA 24/06/2012 bibliografia



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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 ]

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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]

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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]

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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]

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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]

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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]

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

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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]

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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]

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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]

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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]

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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]

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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]

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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.

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 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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