Young's syndrome and cystic fibrosis mutation delta F508
Hirsh, A.; Williams, C.; Williamson, B.
Lancet 342(8863): 118
1993
ISSN/ISBN: 0140-6736 PMID: 8100886 Document Number: 420814
Document emailed within 1 workday
Related Documents
Denter, M.; Ramsay, M.; Jenkins, T. 1992: Cystic fibrosis. Part I. Frequency of the delta F508 mutation in South African families with cystic fibrosis South African Medical Journal 82(1): 7-10Skogerboe, K.J.; West, S.F.; Murillo, M.D.; Tait, J.F. 1990: Development and evaluation of a simplified dot-blot method for detecting the delta F508 mutation in cystic fibrosis Clinical Chemistry 36(11): 1984-1986
Highsmith, W.E.; Chong, G.L.; Orr, H.T.; Perry, T.R.; Schald, D.; Farber, R.; Wagner, K.; Knowles, M.R.; Warwick, W.J.; Silverman, L.M. 1990: Frequency of the delta Phe508 mutation and correlation with XV.2c/KM-19 haplotypes in an American population of cystic fibrosis patients: results of a collaborative study Clinical Chemistry 36(10): 1741-1746
Zilfalil, B.A.; Sarina, S.; Liza-Sharmini, A.T.; Oldfield, N.J.; Stenhouse, S.A. 2006: Detection of F508del mutation in cystic fibrosis transmembrane conductance regulator gene mutation among Malays Singapore Medical Journal 47(2): 129-133
Kaplan, D.M.; Niv, A.; Aviram, M.; Parvari, R.; Leiberman, A.; Fliss, D.M. 1996: The 3849 + 10 kB C-->T mutation in a 21-year-old patient with cystic fibrosis Ear Nose and Throat Journal 75(12): 793-795
Beaudet, A.L.; Feldman, G.L.; Kobayashi, K.; Lemna, W.K.; Fernbach, S.D.; Knowles, M.R.; Boucher, R.C.; O'Brien, W.E. 1991: Mutation analysis for cystic fibrosis in a North American population Advances in Experimental Medicine and Biology 290: 53-54
Wu, C.L.; Shu, S.G.; Zielenski, J.; Chiang, C.D.; Tsui, L.C. 2000: Novel cystic fibrosis mutation (2215insG) in two adolescent Taiwanese siblings Journal of the Formosan Medical Association 99(7): 564-567
Croft, P.R.; Racz, M.I.; Bloch, J.D.; Palmer, C.H. 2005: Autopsy confirmation of severe pulmonary interstitial fibrosis secondary to Munchausen syndrome presenting as cystic fibrosis Journal of Forensic Sciences 50(5): 1194-1198
Delaney, S.J.; Alton, E.W.; Smith, S.N.; Lunn, D.P.; Farley, R.; Lovelock, P.K.; Thomson, S.A.; Hume, D.A.; Lamb, D.; Porteous, D.J.; Dorin, J.R.; Wainwright, B.J. 1996: Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations EMBO Journal 15(5): 955-963
Tirouvanziam, R.; Desternes, M.; Saari, A.; Puchelle, E.; Péault, B.; Chinet, T. 1998: Bioelectric properties of human cystic fibrosis and non-cystic fibrosis fetal tracheal xenografts in SCID mice American Journal of Physiology 274(4): C875-C882
Więcek, S.; Woś, H.; Kordys-Darmolińska, Bżena.; Sankiewicz-Szkółka, M.; Grzybowska-Chlebowczyk, U. 2015: Does the mutation of the SERPINA1 gene contribute to liver damage and cholestasis in patients with diagnosed cystic fibrosis? preliminary study Developmental Period Medicine 19(1): 92-97
Kollberg, H.; Westring, C. 1976: Young people with cystic fibrosis--a new group of diseases Lakartidningen 73(10): 866-869
Pedersen, J.T.; Lykkegaard, E.; Faero, O.; Jacobsen, L. 1974: Lung function in children and young adults with cystic fibrosis Danish Medical Bulletin 21(1): 12-19
Ioculano, V.; Mantovan, F. 2013: Psychosocial changes in adolescents and young adults with cystic fibrosis after lung transplantation Kinderkrankenschwester: Organ der Sektion Kinderkrankenpflege 32(7): 262-265
Sawyer, S.M.; Phelan, P.D.; Bowes, G. 1995: Reproductive health in young women with cystic fibrosis: knowledge, behavior and attitudes Journal of Adolescent Health: Official Publication of the Society for Adolescent Medicine 17(1): 46-50
Brandt, N.J. 1982: Cystic fibrosis syndrome Ugeskrift for Laeger 144(50): 3760-3761
Cepuch, G.ży.; Gniadek, A.; Gustyn, A.; Tomaszek, L. 2017: Emotional states and sleep disorders in adolescent and young adult cystic fibrosis patients Folia Medica Cracoviensia 57(4): 27-40
Hubbard, P.A.; Broome, M.E.; Antia, L.A. 2005: Pain, coping, and disability in adolescents and young adults with cystic fibrosis: a Web-based study Pediatric Nursing 31(2): 82-86
Iida, Y. 1991: Quantification analysis of human delta-globin gene. Mutation in 5'-splice junction sequence and delta-thalassemia Nucleic Acids Symposium Series 25: 157-158
Matsehe, J.W.; Go, V.L.; DiMagno, E.P. 1977: Meconium ileus equivalent complicating cystic fibrosis in postneonatal children and young adults. Report of 12 cases Gastroenterology 72(4 Pt 1): 732-736