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N. Beratis, J. Conover, E. Conod, R. Bonforte, K. Hirschhorn (1973)
Studies on Ciliary Dyskinesia Factor in Cystic Fibrosis. III. Skin Fibroblasts and Cultured Amniotic Fluid CellsPediatric Research, 7
P. Sant’agnese, R. Talamo (1967)
Pathogenesis and physiopathology of cystic fibrosis of the pancreas. Fibrocystic disease of the pancreas (Mucoviscidosis).The New England journal of medicine, 277 24
J. Conover, E. Conod, K. Hirschhorn (1973)
Ciliary-dyskinesia factor in immunological and pulmonary disease.Lancet, 1 7813
Barbara Bowman, M. McCombs, L. Lockhart (1970)
Cystic Fibrosis: Characterization of the Inhibitor to Ciliary Action in Oyster GillsScience, 167
Barbara Bowman, L. Lockhart, M. McCombs (1969)
Oyster Ciliary Inhibition by Cystic Fibrosis FactorScience, 164
B. Danes, E. Flensborg (1971)
Cystic fibrosis: cell culture studies on a Danish population.American journal of human genetics, 23 3
B. Danes, A. Bearn (1966)
HURLER'S SYNDROMEThe Journal of Experimental Medicine, 123
Barbara Bowman, Don Barnett, Reuben MATALONt, B. DANESt, Alexander BEARNt (1973)
Cystic fibrosis: fractionation of fibroblast media demonstrating ciliary inhibition.Proceedings of the National Academy of Sciences of the United States of America, 70 2
B. Shannon, J. Scott, Ph And, A. Bearn (1970)
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B. Danes (1975)
Cystic fibrosis heterozygote detection: A study on a normal populationClinical Genetics, 7
B. Danes, Stephen Litwin, Thomas Hütteroth, H. Cleve, A. Bearn (1973)
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J. Conover, R. Bonforte, P. Hathaway, S. Paciuc, E. Conod, K. Hirschhorn, F. Kopel (1973)
Studies on Ciliary Dyskinesia Factor in Cystic Fibrosis. I. Bioassay and Heterozygote Detection in SerumPediatric Research, 7
B. Danes (1971)
The use of white blood cell cultures in studying genetic metabolic diseases.Birth defects original article series, 7 1
A. Spock, H Heick, H. Cress, W. Logan (1967)
Abnormal Serum Factor in Patients with Cystic Fibrosis of the PancreasPediatric Research, 1
Sant'Agnese (1967)
Pathogenesis and physiopathology of cystic fibrosis of the pancreasNew Engl. J. Med., 277
R. Wood, P. Sant'Agnese (1973)
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J. Conover, N. Beratis, E. Conod, E. Ainbender, K. Hirschhorn (1973)
Studies on Ciliary Dyskinesia Factor in Cystic Fibrosis. II. Short Term Leukocyte Cultures and Long Term Lymphoid LinesPediatric Research, 7
B. Danes (1973)
Association of cystic-fibrosis factor to metachromasia of the cultured cystic-fibrosis fibroblast.Lancet, 2 7832
B. Danes, A. Bearn (1969)
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(1972)
Cell culture and cystic fibrosis
Family studies have been done to determine if the phenotypes described for the cystic fibrosis (CF) cultured cell reliably detected the CF gene. Two culture phenotypes were studied in culture derived from consecutive generations in four CF families: (1) cystic fibrosis factor (CFF) in the medium of short-term white blood cell cultures assayed by a modified oyster ciliary test and (2) the three characteristics of cultured skin fibroblasts (metachromasia without alcianophilia at 0.3 M MgCl2, CFF in the culture medium and metabolic cooperation with normal fibroblasts). As CF is an autosomal recessive disorder, the family offered a test unit for determining the specificity of these cell phenotypes for the CF gene. On the basis of detecting the CF culture phenotypes in the homozygote and obligatory heterozygotes, the parents, and their segregation in consecutive generations, detection of the CF gene was not possible in the white blood cell cultures, but was possible in the skin fibroblast cultures.
Clinical Genetics – Wiley
Published: Jul 1, 1975
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